In episode 18 of the GA4GH OmicsXchange podcast, we speak with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI), on the Advances in Genome Biology and Technology (AGBT) Precision Health Meeting. Visit agbt.org to register for the Precision Health Meeting, which takes place 8–10 September 2022 in San Diego, USA.
Michael Schatz, Bloomberg Distinguished Professor of Computer Science and Biology at Johns Hopkins University, is among the world’s foremost experts in solving computational problems in genomics research. His innovative biotechnologies and computational tools to study the sequence and function of genomes are advancing the understanding of the structure, evolution, and function of genomes for medicine – particularly autism spectrum disorders, cancer, and other human diseases – and agriculture.
Schatz, who founded and directs the Schatz Lab, has created many of the most widely used methods and software to assemble the full genetic material for a single person or a species, including:
Yufeng Shen is an Associate Professor of Systems Biology and Biomedical Informatics at Columbia University. He received his B.S. in biochemistry and molecular biology from Peking University and his Ph.D. in computational biology from Baylor College of Medicine. At Baylor, Shen led the analysis of the first human genome sequenced by next-generation technologies. Dr. Shen currently directs National Institutes of Health–funded research programs that integrate genomics data to predict functional impact of genetic variation by machine learning and identify genetic causes of human diseases. His group developed CANOES (Backenroth et al., Nucleic Acids Res., 2014), a method to identify rare copy number variants from exome sequencing data, and gMVP (Zhang et al., Nat. Mach. Intell. 2022), a deep learning method to predict pathogenic missense variants. They also discovered that epigenomic patterns under normal conditions are associated with risk genes of developmental disorders (Han et al., Nat. Commun., 2018). In addition, his research led to the discovery of a number of novel risk genes of autism (Zhou et al., Nat. Genet. 2022) and birth defects such as congenital heart disease (Homsy et al., Science, 2015) and congenital diaphragmatic hernia (Qi et al., PLoS Genetics, 2018).
Danny Miller is an Assistant Professor in the Department of Pediatrics, Division of Genetic Medicine, and the Department of Laboratory Medicine and Pathology at the University of Washington and Seattle Children’s Hospital in Seattle, Washington. His laboratory uses new sequencing technologies to identify missing disease-causing genetic variation and to better understand biological processes associated with human disease. He is also working to develop long-read sequencing-based clinical genetic tests with a goal of increasing the rate of genetic diagnoses and reducing the time required to make a genetic diagnosis. Clinically, he cares for patients in both general genetics and skeletal dysplasia clinics. More information can be found on his lab website at www.millerlaboratory.com.
Dr. Miga is an Assistant Professor in the Biomolecular Engineering Department at UCSC, and an Associate Director of the UCSC Genomics Institute. In 2019, she co-founded the Telomere-to-Telomere (T2T) Consortium, an open, community-based effort to generate the first complete assembly of a human genome. Dr. Miga directs the Reference Production Center for the Human Pangenome Reference Consortium (HPRC), with the goal to broaden the human reference to represent hundreds of diverse genomes from around the world and serve as the foundation for more inclusive and equitable health care in the future. Central to Dr. Miga’s research program is the emphasis on satellite DNA biology and the use of long-read and new genome technologies to construct high-quality genetics and epigenetic maps of human peri/centromeric regions.
Luke Rosen and his wife, Sally Jackson, founded KIF1A.ORG in 2016 following their daughter Susannah’s KIF1A diagnosis. In 2017 Luke left his career in film and television to accelerate the discovery of treatment for Susannah and children like her. In November 2022, Susannah was the first child to receive an experimental ASO treatment developed by the N-lorem Foundation.
With a focus on research strategy and outcome measures, his mission is to accelerate biotech innovation and forge efficient collaborations to rapidly discover a treatment for children affected by KIF1A. Luke is a community leader who drives our collective mission to urgently bring treatment to children living with rare neurodegenerative diseases.
For over five years, Luke held various senior-level positions in biotech working to develop treatments for rare, neurological conditions including KIF1A. He left the traditional industry setting to support rare disease endeavors and communities that are considered “too rare.” Luke works to integrate community-driven initiatives and patient/family experiences into every element of R&D.
He has a master’s degree in bioethics and is a firefighter in the Sag Harbor, New York Fire Department.
TODD GOLUB is the director of the Broad Institute of MIT and Harvard and a founding core member of the institute. He is also a member of the faculty of the Dana-Farber Cancer Institute and Harvard Medical School. Golub is a world-renowned physician-scientist who pioneered the application of genomics to cancer biology and therapeutic discovery. He is one of the first researchers to use genomic approaches to molecularly characterize human tumors, laying the foundation for the use of genomics to classify, diagnose, and treat cancer. Throughout his career, Golub has advocated for the free, rapid sharing of large-scale genomic data and tools to accelerate the pace of biomedicine, and is deeply committed to patient-focused research.
Early in his career as a pediatric oncologist and cancer researcher, Golub made key discoveries on the genetic and molecular origins of the most common form of childhood leukemia, acute lymphoblastic leukemia (ALL). These fundamental insights led to changes in treatment that are now the standard of care. This groundbreaking research stemmed from Golub’s dual role as a physician and scientist, and it helped crystallize his strongly held view that continually learning from patients—in an unbiased and systematic way—is the surest route to uncovering the root causes of disease and identifying novel, effective treatments.
Golub’s innovative use of gene expression in different locations in the body. Golub has initiated a major effort at Broad, known as the Drug Repurposing Hub, to curate and characterize the biological effects of thousands of existing drugs— many already proven safe in humans—with the aim of uncovering novel uses, especially for cancer treatment.
Golub has mentored numerous trainees over the span of his career, empowering them and other young scientists to take risks and pursue bold ideas with extraordinary potential.
He joined the faculty of the Dana-Farber Cancer Institute and Harvard Medical School in 1997. At the same time, he served as the leader of cancer genomics at the Whitehead Institute/MIT Center for Genome Research. As a founding core member of the Broad Institute, Golub helped launch the organization in 2004 and established its Cancer Program. He served as director of Broad’s Cancer Program for 17 years and helped create a nimble, entrepreneurial, and supportive scientific community where researchers at all career levels and from laboratories across the greater Boston area can pursue transformative ideas in cancer. He also served as Broad’s chief scientific officer for a decade before being named the institute’s director in January 2021. In addition, he is currently the Charles A. Dana Investigator in Human Cancer Genetics at the Dana-Farber Cancer Institute and a professor of pediatrics at Harvard Medical School. He was also an investigator at the Howard Hughes Medical Institute from 2002 to 2019.
Golub is the recipient of multiple awards, including the Erasmus Hematology Award, the Richard and Hinda Rosenthal Memorial Award, the Outstanding Achievement Award from the American Association for Cancer Research, the Paul Marks Prize for Cancer Research, the E. Mead Johnson Award from the Society for Pediatric Research, and the Judson Daland Prize for Outstanding Achievement in Clinical Investigation from the American Philosophical Society. In 2014, Golub was elected to the US National Academy of Medicine.
Golub has served on the scientific advisory boards of many organizations, including serving as chair of the advisory boards of St. Jude Children’s Research Hospital, the Ontario Institute for Cancer Research, the Sanford Burnham Prebys Medical Discovery Institute, and the Board of Scientific Advisors of the National Cancer Institute.
Beyond his scientific work, Golub is a passionate supporter of the arts, including visual arts and music. He believes that art and science resonate with each other, both fueled by creativity. He launched Broad’s Artist-in-Residence Program in 2006, which enables scientists and artists to work side-by-side, influencing and learning from each other in pursuit of innovation. He also serves on the Board of Trustees of the Boston Symphony Orchestra.
Golub received his B.A. from Carleton College and his M.D. from the University of Chicago Pritzker School of Medicine. He completed his internship, residency, and fellowship training at Boston Children’s Hospital and the Dana-Farber Cancer Institute.
Dr. Gleeson is the Director of the Laboratory for Pediatric Brain Disease at Rady Genomics Institute and the University of California San Diego, and Chief Medical Officer of the n-Lorem Foundation. The mission of n-Lorem is to apply the efficiency, versatility, and specificity of antisense technology to charitably provide experimental antisense oligonucleotide (ASO) medicines to treat patients with nano-rare diseases, for free for life. Gleeson received a medical degree at the University of Chicago Pritzker School of Medicine. He completed a residency and fellowship in Pediatrics and Neurology at Children’s Hospital Boston and Harvard Medical School. He has been awarded for his research on inherited brain disorders with the Searle Scholar Program, the Merck Award in Developmental Disabilities, the Klingenstein Award in the Neurosciences, the Burroughs Wellcome Award in Translational Research, the Howard Hughes Medical Institute, the Leiber Award in Neurosciences and the Sachs Award from the Society of Child Neurology. He was elected to the Institute of Medicine. Dr. Gleeson’s interests include neuronal development and the application of human genetics, mouse models, and cell biology to neurodevelopmental disorders.
Elaine Mardis, PhD is co-Executive Director of the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital and holds the Rasmussen Nationwide Foundation Endowed Chair of Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was on the faculty of Washington University School of Medicine from 1993-2016. Dr. Mardis has authored over 380 articles in peer-reviewed journals and has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters/Clarivate. She is an internationally recognized expert in cancer genomics, with ongoing interests in the integrated characterization of cancer genomes, defining DNA-based somatic and germline interactions and RNA-based pathways and immune microenvironments that lead to cancer onset and progression, focused on pediatric cancers. She is committed to converting the research-based knowledge of genomics into optimized assays with the rapid transition to clinical implementation for pediatric and AYA cancer patients. Dr. Mardis was awarded the Morton K. Schwartz Award from the American Association for Clinical Chemistry in 2016 and the Heath Memorial Award from MD Anderson Cancer Center in 2020. Dr. Mardis served as President of the American Association for Cancer Research (AACR) from 2019-2020. She was elected a Fellow of the AACR Academy and was elected to membership in the National Academy of Medicine in 2019.
Claudia Gonzaga-Jauregui is a Mexican human genetics and genomics researcher. She did her undergraduate studies in Genomic Sciences at the National Autonomous University of Mexico (UNAM). She obtained her PhD in Molecular and Human Genetics from Baylor College of Medicine, where she contributed to large population genomic studies such as HapMap 3 and pioneered the analyses of genomic sequence data for molecular diagnostics and the identification of novel Mendelian disease genes. She has led large-scale Mendelian genomics projects in academia and industry to identify medically relevant variations and potential drug targets. Claudia has now established her research group focused on Mendelian Genomics and Precision Health at the International Laboratory for Human Genome Research (Laboratorio Internacional de Investigación sobre el Genoma Humano, LIIGH) of UNAM in Mexico. Her research focuses on the investigation of human pathogenic and polymorphic genomic variations that contribute to human traits and diseases. Leveraging family-based analyses of rare and common genetic disorders and functional characterization of genomic variation, she aims to better understand disease mechanisms and pathophysiology. Claudia believes that the application and understanding of human genetics and genomics can lead to improved treatments and the realization of precision genomic medicine for everyone around the globe. She is an advocate for global genomic equity and diversity in genomics.
Lyn Chitty, Professor of Genetics and Fetal Medicine at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust has published extensively on prenatal diagnosis and ultrasound screening of fetal abnormalities. She led the work on the use of circulating cell-free DNA in maternal plasma which has led to implementation in the UK for the non-invasive prenatal diagnosis (NIPD) of monogenic conditions. She continues to work on the implementation of new molecular techniques to improve prenatal diagnosis through the implementation of rapid sequencing, extended development of NIPD, and whole genome sequencing for postnatal diagnosis. Her research is always patient-focused, working closely with patient support organizations, social scientists and ethicists to ensure we understand patient needs to ensure informed parental/patient consent for these more complex tests. She led the North Thames GMC for the 100,000 Genomes project and the establishment of the NT Genomic Laboratory Hub. She is an NIHR Senior Investigator Emeritus, Editor-in-Chief of the journal Prenatal Diagnosis, Past President of the International Society of Prenatal Diagnosis, Deputy Director of the GOSH NIHR Biomedical Research Centre and continues to lead the rare disease translational research in the NT Genomic Laboratory Hub at GOSH. She was awarded Dame Commander of the Order of the British Empire in the 2022 New Years Honours list in recognition of her service to medicine.
Dr. Berent is a veterinary internal medicine specialist/interventionalist who graduated from Cornell University and completed her residency at the University of Pennsylvania, where she served as an Adjunct Assistant Professor before joining the Animal Medical Center in NYC. She is the Director of Interventional Endoscopy, focusing on clinical trials researching medical devices, particularly for ureteral and biliary obstructions. In 2014 Dr. Berent’s daughter, Quincy, was diagnosed with Angelman syndrome. In 2015 she joined the Board of Directors for the Foundation for Angelman Syndrome Therapeutics (FAST), becoming the Chief Science Officer. Dr. Berent serves as the co-director of the Angelman Syndrome Biomarker and Outcome Measure Consortium, co-director for the International Angelman Syndrome Research Council (INSYNC-AS), and is an advisor to numerous pharmaceutical companies working on therapeutic candidates for rare neurodevelopmental disorders. Dr. Berent co-founded GeneTx Biotherapeutics, a company focused on advancing an antisense oligonucleotide therapy for AS, where she was the Chief Operating Officer. GeneTx was acquired in 2022 by Ultragenyx Pharmaceuticals, after launching the Phase1/2 clinical trial, and she now serves as a consultant for Ultragenyx.
Janardan D. Khandekar, MD, Chair of Personalized Medicine
NorthShore University HealthSystem
Affiliations: American Medical Association, American Society of Human Genetics, American College of Medical Genetics and Genomics
Dr. Hulick is the Janardan D. Khandekar, MD, Chair of Personalized Medicine and Division Head for Medical Genetics at NorthShore University HealthSystem (NorthShore), which applies genetic analysis to the prevention, diagnosis, and treatment of inherited diseases and disorders. He joined NorthShore as an attending physician in medical genetics in 2008, became Division Head of Medical Genetics in 2012 and Medical Director for the Mark R. Neaman Center for Personalized Medicine prior to his chair appointment in 2022.
Dr. Hulick also serves as a Clinical Associate Professor in the Department of Human Genetics at the University of Chicago Pritzker School of Medicine. Previously, he served as an attending physician in medical genetics at Massachusetts General Hospital in Boston, Massachusetts. He has authored or co-authored more than 50 peer-reviewed journal articles.
Dr. Hulick earned his medical degree from Jefferson Medical College in 2001. He completed a residency in internal medicine at St. Luke’s Hospital – Mayo Clinic and completed a clinical fellowship in medical genetics at Harvard Medical School. He also earned a master’s degree in medical science from Harvard Medical School in 2007.
Dr. Charles Rotimi was appointed scientific director of NHGRI in 2021. He received his undergraduate education in biochemistry from the University of Benin in Nigeria before immigrating to the United States for further studies. He started his education in the United States at the University of Mississippi, where he obtained a master’s degree in health care administration. He obtained a second master’s degree and a doctorate in epidemiology from the University of Alabama at Birmingham School of Public Health. Prior to coming to the NIH, Dr. Rotimi was the director of the National Human Genome Center at Howard University.
Dr. Rotimi came to the NIH in 2008 to found the trans-institute Center for Research on Genomics and Global Health, with the mission of advancing research into the role of culture, lifestyle and genomics in disease etiology, health disparities and variable drug response. His lab develops genetic epidemiology models and conducts epidemiologic studies that explore the patterns and determinants of common complex diseases in human populations with particular emphasis on populations of the African Diaspora. His team published the first genome-wide scan for hypertension and blood pressure in African Americans and for type-2 diabetes in West Africans. His lab contributes to the global understanding of human genetic variation by actively participating in the development of international genomic resources including the HapMap, the 1,000 Genome and the African Genome Variation Project. He is on the Executive and Scientific Committee for the International Federation of Human Genetics Societies and was elected to the Human Genome Organization (HUGO) Council. He is the founding and past president of the African Society of Human Genetics (AfSHG).
He successfully led the establishment of the Human Heredity and Health in Africa (H3Africa) initiative with $76 million commitment from the NIH and Wellcome Trust. H3Africa created a support network of labs that conduct leading-edge research into the genetic and environmental determinants of diseases in Africans. He is on the editorial board of Public Health Genomics, Genome Medicine, Clinical Genetics and Journal of Applied and Translational Genomics. He is on the Coriell Personalized Medicine Collaborative Board. He was awarded an honorary professorship at the prestigious University of Cape Town, South Africa. He became the Chief of the Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch in 2014 and stepped down in 2021.
Lea Starita is a Research Assistant Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.
Melina Claussnitzer is an institute member at the Broad Institute and an assistant professor at Massachusetts General Hospital and Harvard Medical School (HMS). She also co-directs the Type 2 Diabetes Systems Genomics Initiative at the Broad, and serves as the associate director of scientific strategy for the Novo Nordisk Foundation Center for Genomic Mechanisms of Disease at the Broad. Her lab focuses on the conversion of disease-associated genetic variants to function (V2F) and, more specifically, on the dissection of the genetic basis of type 2 diabetes and its comorbidities into actionable therapeutics. This focus requires a concerted, systematic effort to interpret non-coding genetic variation and to understand how it contributes to phenotypic variation in the context of the complete cellular machinery. Claussnitzer’s research program therefore spans a diversity of areas in the field of disease genomics and involves a hierarchical experimental and computational framework to discover pathophysiological targets underlying the genetic risk of metabolic disease phenotypes.
Claussnitzer’s thesis work focused on the computational and experimental foundations of genome-wide association study (GWAS) locus dissection and its application to the conversion of type 2 diabetes risk loci into disease mechanisms. She pioneered new computational and experimental methods for converting genomic regions associated with complex diseases and traits in humans into functions using multiple species comparisons and large-scale epigenomic and transcriptomic data sets, as well as CRISPR-Cas9 mediated variant editing. Her lab applies those methods to mechanistically dissect metabolic risk loci across diverse phenotypic scales.
Claussnitzer earned her “Vordiplom” (equivalent of B.Sc.) in mathematics and nutritional sciences and her “Diplom” (equivalent of M.Sc.) in molecular biology and nutritional sciences from the University of Hohenheim, Germany, where she now holds a faculty position. She earned her Ph.D. in genetics of complex diseases from the Technical University of Munich, Germany.
Photo credit: Lovely Valentine
Passionate about research that delivers tangible benefits for farmers, since obtaining a PhD in animal breeding and genetics from the University of New England, Jo’s work has focused on practical tools to illustrate the benefit of better herd-improvement decisions on farm. Jo currently works as a research scientist for Agriculture Victoria on the DairyBio initiative where she uses a multi-disciplinary approach in developing and valuing decision support tools that enable more informed breeding and management decisions on-farm. As a 2018 Endeavour Postdoctoral Fellow, Jo spent 6 months as a visiting scientist Teagasc Moorepark, Ireland.
Jo has a history of active involvement across the wider agricultural sector across numerous not-for-profit organisations, particularly in advocacy and support of young people in agriculture. Jo was awarded a Medal of the Order of Australia (OAM) in 2020 for her service to agriculture through her advocacy and support of young people, volunteering, and contribution to dairy research.
Dr. Leena Tripathi is the Director of Eastern Africa Hub and Leader of the Biotechnology Program at the International Institute of Tropical Agriculture (IITA). She is leading the transgenic and gene-editing research at IITA. She has been involved in plant biotechnology research for more than 25 years, with specific interests in crop improvement. She focuses on “Science to Practice” and linking scientific innovations to practical applications to solve food production issues worldwide. Her primary research focuses on genetically improving important staple food crops like banana/plantain, cassava, and yam to control diseases and pests. Her scientific contributions have been recognized internationally through several awards and honors, such as excellence awards for outstanding scientist and publications. She has been honored as an Elected Fellow of the American Association for the Advancement of Science (AAAS) for her contributions to Agriculture.
Dr. Tripathi and her team have established a robust genetic transformation platform at IITA-Kenya, to develop transgenic and gene-edited products and transfer these technologies to national agricultural research systems in sub-Saharan Africa. She collaborates globally with advanced labs in the United States, United Kingdom, Europe, and Australia, as well as with national partners in Kenya, Uganda, Ethiopia, Malawi, and Rwanda, and various regional partners. She serves as Editorial Board Member for Plant Biotechnology Journal, Communication Biology, Frontiers in Genome Editing, Scientific Reports, and Plant Cell Reports. Leena obtained her Ph.D. in plant molecular biology and M.Sc. in molecular biology and biotechnology. She worked at the University of North Carolina at Greensboro before joining IITA.
I work with the design of breeding schemes, including marker-assisted and genomic selection schemes, and with QTL mapping. I also work with the management of genetic variation, i.e. managing inbreeding, both at the level of relationship and at the genomic level. Computer simulation is the basic method used along with analysis of real data. Education: MSc Animal Science, Swedish University of Agricultural Sciences (1996), PhD Animal Breeding and Genetics, Wageningen University (2002).
Rob Martienssen studies epigenetic mechanisms that shape and regulate the genome, and their impact on transposable elements, first discovered by Barbara McClintock at Cold Spring Harbor Laboratory. These mechanisms underlie clonal propagation of oil palm, with implications for rain forest conservation, and of aquatic plants, including the humble duckweed, that are being engineered in the Martienssen lab for biofuel production and carbon sequestration. The link between epigenetics and RNA interference was named “Breakthrough of the Year” by Science magazine. Dr Martienssen obtained his PhD in Genetics at the Plant Breeding Institute at Cambridge University. After postdoctoral training at the University of California, Berkeley, he joined the faculty at Cold Spring Harbor in 1989. Dr. Martienssen is a Fellow of the Royal Society, and a Howard Hughes Medical Institute Investigator. He was awarded the McClintock Prize in 2018, and the Darwin Medal in 2020. Dr. Martienssen is a co-founder of Orion Genomics LLC and Orion Biosains.
Prof. Lindiwe Majele Sibanda is a recognized leader, practicing farmer and esteemed policy advisor with a career spanning 30 years. She currently serves as Director and Chair of the African Research Universities Alliance – Centre of Excellence in Sustainable Food Systems (ARUA-SFS) at the University of Pretoria. Prof. Sibanda is also the incoming Research Chair for Sustainable Food Systems at the Future Africa Institute, University of Pretoria. She is also hosted by the University’s Centre of Advancement of Scholarship as a Senior Research Fellow.
Prof. Sibanda is an SDG12.3 Champion on Reducing Food Loss and Waste and is a member of the Leadership Council of the United Nations Sustainable Development Solutions Network (SDSN) – South Africa NationalNetwork. Prof. Sibanda also sits on multiple international boards including Nestlé SA, World Vegetable Centre, the One CGIAR System Board. In previous roles, Prof. Sibanda has served as the Chief Executive Officer and Head of Diplomatic Mission, Food, Agriculture and Natural Resources Policy Analysis Network (FANRPAN) and vice-President at the Alliance for a Green Revolution in Africa (AGRA).
She holds a Ph.D. and MSC in Animal Sciences from the University of Reading, and BSc in Animal Sciences from the University of Alexandria, Egypt.
Farhad Hormozdiari, a research scientist in the HealthAI team at Google Research, where he combines genetic data and machine learning techniques to improve disease understanding for a diverse set of populations. His long-term research aim includes utilizing genetics and machine learning for better social good. Recently, Farhad has grown his interests and focus in leveraging deep learning and statistical genetics to understand plant genomics and improve crop resistance to climate changes. Prior to Google, Farhad was a postdoctoral fellow at Broad Institute and Harvard T.H. Chan School of Public Health working on multi-omics data to understand the biological mechanisms of human diseases. He obtained his PhD in computer science from UCLA (2016) with focus on fine-mapping of traits and GTEx gene expression. Farhad obtained his M.Sc. in computer science from SFU in Canada and B.S. in computer science from Tehran University in Iran.
Professor Hayes has extensive research experience in genetic improvement of livestock, crop, pasture and aquaculture species, with a focus on integration of genomic information into breeding programs, including leading many large scale projects which have successfully implemented genomic technologies in livestock and cropping industries. Author of more than 250 journal papers, including in Nature Genetics, Nature Reviews Genetics, and Science, contributing to statistical methodology for genomic, microbiome and metagenomic profile predictions, quantitative genetics including knowledge of genetic mechanisms underlying complex traits, and development of bioinformatics pipelines for sequence analysis. Thomson Reuters highly cited researcher in 2015, 2016, 2017 and 2018.
I lead the HighlanderLab, which focuses on managing and improving populations using data science, genetics, and breeding. We focus on populations used for food, feed, and fibre production We are particularly interested in: (i) methods for genetics and breeding, (ii) design and optimisation of breeding programmes, and (iii) analysis of data to unravel biology and to find new ways of improving populations.
The ultimate goal of my research projects is trying to have a better understanding of the genetic architecture of quantitative traits, specially (but not exclusively) for polyploids, with emphasis on sugarcane. This could be useful for breeding programs and for geneticists interested on complex traits.
To achieve this goal, I have been investigating statistical genetics methods related to:i) linkage mapping; ii) quantitative trait loci (QTL) mapping; iii) association mapping; iv) genomic selection.
Breeding programs always need to take into consideration important phenomenon such as genotype by environment interaction, and the presence of correlation between traits. My group is also investigating these subjects.
I have a PhD in Genetics and Plant Breeding (Department of Genetics, “Luiz de Queiroz” College of Agriculture, University of São Paulo – ESALQ/USP and a post-doc in Statistical Genetics (Bioinformatics Research Center, North Carolina State University, USA).
I started my career as a researcher working with sugarcane breeding (1995-1998) atFederal University of São Carlos, Araras, SP, Brazil. After, I moved to the Department of Statistics at ESALQ/USP, teaching Calculus, Statistics and Experimental Designs (1998-2002). Nowadays, I am a faculty of Department of Genetics (ESALQ/USP), teaching Genetics, Plant Breeding and Statistical Genetics.
Professor Mark Cooper is Chair of Prediction Based Crop Improvement at The University of Queensland, and a global leader in quantitative genetics and plant breeding. His work involves integrating genomic prediction and crop growth models into an ‘end to end’ framework for crop improvement.
Professor Cooper has pioneered the development of novel genetic modelling methodologies, based on gene networks, to study important properties of quantitative traits in biology, and demonstrated how this new genetic modelling framework can be successfully used in plant breeding to improve prediction of important traits under the influences of selection. Professor Cooper’s work at DuPont Pioneer on drought adaptation in one of the largest maize breeding programs in the world led to the AQUAmax hybrids that presently cover millions of hectares worldwide.
A quantitative geneticist by training, Professor Cooper spent 20 years working with industry in the United States and as CEO of his own consultancy firm Zenrun42, before returning to UQ to build upon the critical mass of predictive agricultural expertise in QAAFI and the wider university.
In July 2021, Dr. C. Robin Buell joined the University of Georgia as the Georgia Research Alliance Eminent Scholar Chair in Crop Genomics in the Department of Crop & Soil Sciences and the Center for Applied Genetic Technologies. Prior to joining UGA, she was a University Distinguished Faculty and MSU Foundation Professor of Plant Biology at Michigan State University (2007-2021), an Associate Investigator at The Institute for Genomic Research (1999-2007), and as Assistant Professor at Louisiana State University (1997-1998).
Her research program focuses on the genome biology of plants including comparative genomics, bioinformatics, and computational biology. She has worked on the genomes of Arabidopsis, rice, potato, maize, switchgrass, sweetpotato, mints, and medicinal plants. With expertise in bioinformatics, one component of Dr. Buell’s research is provision of databases and web-based data-mining tools for the greater scientific community. Dr. Buell maintains the Rice Genome Annotation Project, which receives over 2 million page visits a year. Dr. Buell earned her BSc from the University of Maryland, her MSc from Washington State University, and her PhD from Utah State University. Dr. Buell has an active research group composed of postdoctoral research fellows, research assistants, graduate students, undergraduate students and high school interns and collaborates with scientists across the United States and throughout the world. She has served as an editor at Plant Physiology, the Plant Genome, Crop Science, Frontiers in Plant Genetics and Genomics, and Plant Cell. She is a fellow of the American Association for the Advancement for Science and the American Society of Plant Biologists. At UGA, she is a member of the Institute of Plant Breeding, Genetics & Genomics and is the Georgia Research Alliance Eminent Scholar Chair in Crop Genomics.
Beth Shapiro is an evolutionary biologist who specializes in the genetics of ice age animals and plants. As Professor of Ecology and Evolutionary Biology at UC Santa Cruz and HHMI Investigator, Beth uses DNA recovered from bones and other remains to study how species evolved through time and how human activities affected this dynamic process. Her PhD research developed tools to infer changes in species’ abundance and distribution from chronological samples of genetic data. She has since used these to trace evolutionary changes in organisms ranging from influenza to mammoths, asking questions about domestication, admixture, and pathogen evolution. Her current work develops techniques to recover increasingly trace amounts of DNA such as from environmental and forensic samples. A 2009 MacArthur Fellow, Beth is also an award-winning popular science author and communicator who uses her research as a platform to explore the potential of genomic technologies for conservation and medicine.
Live and work on the traditional, ancestral, and unceded territory of the Musqueam, Squamish and Tsleil-Waututh people.
Research associate at the Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, Canada.
Solenne is a molecular biologist and bioinformatician passionate about the complexity of human and non-human genomes, interested in using genomic to help navigate some of today’s worldwide challenges, such as ensuring equal access to personalized medicine to everyone around the globe, regardless of their origin or economic background, and studying climate change repercussions on earth biodiversity and fresh water / food supply to help prevent future dramatic events.
Solenne did her PhD in France studying the dog genome (mostly the non-coding part), followed by a post-doc on the Silent Genomes Project, a project aiming to reduce health care disparities and improve diagnostic success for children with rare genetic diseases from Indigenous populations in Canada. Solenne is now leading the bioinformatic analysis for the Canadian BioGenome Project.
Judith Mark uses evolutionary, genomic, and population genetic tools to ask fundamental questions related to how selection acts on males and females within a species, and how the genome responds to contradictory selection to encode sexually dimorphic traits.
Carolyn has been working on the conservation of threatened species for over twenty-five years both in Australia and overseas. She is currently the Senior Research Manager for the Australasian Wildlife Genomics Group in the Faculty of Science. She has been working with the Save the Tasmanian Devil Program for the past ten years; in addition to other species such as orange-bellied parrots, koalas, bilbies, and woylies.
Working closely with both her academic and conservation management partners her vision is to create a conservation legacy for Australia by changing the way we integrate science, management, and policy; to proactively promote species’ resilience in the face of a changing world. We are achieving this by developing better tools and technologies to integrate molecular genetics into real-time conservation management decisions.
Jill Banfield is a Professor in the Departments of Earth and Planetary Science and Environmental Science, Policy, and Management (see contact information below). She also has an appointment in the geochemistry group at Lawrence Berkeley National Laboratory. Her primary research interests are in geomicrobiology and environmental microbiology. Her group studies how microorganisms shape, and are shaped by, their natural environments. Her research group studies microbial communities, primarily using cultivation-independent approaches such as genomics (metagenomics) and community proteomics. They work on microbial dissolution and precipitation of minerals, the structure, properties, and reactivity of nanoparticles (many of which are formed by microorganisms), microbial ecology, and microbial evolution. Virtually all of our projects are tied to a field site. Current locations of study are Iron Mountain (northern California), the Angelo Reserve (northern California), the Rifle and East River sites, Colorado, Crystal Geyser, Utah
Alicia R. Martin, Ph.D., is an Instructor in Investigation at the Analytic & Translational Genetics Unit at Massachusetts General Hospital, an Instructor in Medicine at Harvard Medical School, and an Associated Scientist at the Broad Institute affiliated with the Stanley Center for Psychiatric Research and the Medical and Population Genetics Program. As a population and statistical geneticist, her research examines the role of human history in shaping global genetic and phenotypic diversity. Given vast Eurocentric study biases, she investigates the generalizability of knowledge gained from large-scale genetic studies across globally diverse populations. She is particularly focused on ensuring that the translation of genetic technologies via polygenic risk does not exacerbate health disparities induced by these study biases. Towards this end, she is also developing statistical methods and resources for multi-ethnic studies and underrepresented populations. She earned her PhD in genetics and MS in biomedical informatics from Stanford University (mentored by Dr. Carlos Bustamante), and received postdoctoral training (mentored by Dr. Mark Daly) at MGH and the Broad Institute.
Dr. Anjené (Anji) Musick is the Director of the Scientific Data Strategy Branch in the Division of Medical and Scientific Research in the National Institutes of Health All of Us Research Program, charged with maximizing the scientific integrity of research data collected on or donated by All of Us participants to achieve the broadest impact for biomedical discovery. She is also the Program Director for the All of Us Genome Centers, overseeing all genomic data production pipelines and workflows for data release in the All of Us Research Hub. She also serves as Chair of the All of Us Regulatory Compliance Committee overseeing the FDA Investigational Device Exemption obtained by All of Us to ethically and responsibly return medically actionable genetic results directly to participants.
Dr. Musick has been at the NIH for over 20 years, starting as a pre-doctoral intramural research fellow at the National Human Genome Research Institute in 1995 where she conducted research on the molecular genetics of type 2 diabetes in Francis Collins’ laboratory. She went on to study genetic epidemiology at the Johns Hopkins Bloomberg School of Public Health, earning her M.P.H. and Ph.D. She then returned to NIH in 2002 as an intramural staff scientist, where she led the genetics research program in the Child Psychiatry Branch in the National Institute of Mental Health (NIMH), primarily focusing on the genetics of childhood onset schizophrenia and other severe neurodevelopmental disorders. In 2012, Dr. Musick transitioned to the extramural program at NIMH, administering the Genetics of Mental Illness and Genetic Epidemiology Programs and served as the Branch Chief of the Genomics Research Branch in the Division of Neuroscience and Basic Behavioral Science.
Susan Wessler is Distinguished Professor of Genetics and the Neil and Rochelle Campbell Chair for Innovation in Science Education at the University of California Riverside. In 2011 she was elected Home Secretary of the U.S. National Academy of Sciences (NAS), the first women to hold this position in its 150-year history. She is a plant molecular geneticist known for her contributions to the field of transposon biology and plant genome evolution. A native of New York City, she received a Ph.D. in biochemistry from Cornell University (1980) and was a postdoctoral fellow at the Carnegie Institution of Washington (1980-1982). She began her career at the University of Georgia in 1983 where she remained until moving to UC Riverside in 2010.
Wessler has contributed extensively to educational and diversity initiatives. As a Howard Hughes Medical Institute Professor (2006), she adapted her research program for the classroom by developing the Dynamic Genome (DG) Course where incoming freshman can experience the excitement of scientific discovery. The DG course is currently taken by over 500 students/year. As NAS Home Secretary, she has spearheaded initiatives that have led to a 40% increase in the number of women elected to membership in the NAS.
She is the recipient of several awards including the Stephen Hales Prize (2011) from the American Society of Plant Biologists, the Excellence in Science Award from FASEB (2012) and the McClintock Prize for Plant Genetics and Genome Studies (2015). She is a member of the National Academy of Sciences (1998), the American Academy of Arts and Sciences (2007), the American Philosophical Society (2013), and a Foreign Member of the Royal Society (2017).
Dr. Alison Van Eenennaam is a Cooperative Extension Specialist in the field of Animal Genomics and Biotechnology in the Department of Animal Science at University of California, Davis. She received a Bachelor of Agricultural Science from the University of Melbourne in Australia, and both an MS in Animal Science, and a PhD in Genetics from UC Davis. Her publicly-funded research and outreach program focuses on the use of animal genomics and biotechnology in livestock production systems. Her current research projects include the development of genome editing approaches for cattle. She serves as the bovine genome coordinator for the USDA National Animal Genome Research Program, and is an elected Fellow of the American Association for the Advancement of Science (AAAS). She has given over 700 invited presentations to audiences globally, and uses a variety of media to inform general public audiences about science and technology. She frequently provides a credentialed voice on controversial scientific topics, and has appeared on national media including The Dr Oz Show, NPR, Science Friday, and the Intelligence Squared debate series. She appeared in the 2017 documentary “Food Evolution” narrated by science-communicator Dr. Neil deGrasse Tyson. A passionate advocate of science, Dr. Van Eenennaam was the recipient of the Association of Public and Land-grant Universities (APLU) 2010 National Award for Excellence in Extension, American Society of Animal Science (ASAS) 2014 National Extension Award, the Council for Agricultural Science and Technology (CAST) 2014 Borlaug Communication Award, University of California – Davis 2019 James H. Meyer Distinguished Career Achievement Award, and ASAS 2019 Rockefeller Prentice Award in Animal Breeding and Genetics. Twitter: @BioBeef.
Nils Stein, research group leader at Leibniz Institute of Plant Genetics and Crop Plant Research (IPK), Gatersleben, and Professor of Genomics of Plant Genetic Resources at Georg-August University Göttingen, focuses in research on structural and comparative genome analysis of the small grain cereals barley, wheat and rye – with a leading role in genome sequencing of all three species. This work has recently been extended into pan-genome analysis of barley and wheat with the intention of unlocking the genomic diversity of the vast genetic resources available for the small grains hosted in ex situ gene banks. Nils Stein was awarded the Günter and Anna Wricke Award in Applied Genetics and Breeding Research in 2010 for his achievements in Triticeae genome analysis, the IWGSC leadership award in 2017 and the Royal Physiographic Society in Lund, Sweden, Medal in 2021. Between 2015 and 2019 and for a second term since 2020 , next to his main affiliations in Germany, Nils is an adjunct professor at the School of Agriculture and Environment at UWA, Australia.
Jeffrey Ross-Ibarra is a professor in the Dept. of Evolution and Ecology at the University of California, Davis. His group works on the evolutionary genetics of maize and its wild relatives the teosintes. Research in his group uses population genetic approaches to address questions ranging from transposable element evolution to the genetics of quantitative traits, maize and human coevolution, domestication, and local adaptation. Work from his group has helped elucidate the genetics mechanisms underlying hybrid vigor in maize, and the role of demography, selection, and introgression in shaping maize evolution.
Dr. Adam Phillippy is a Senior Investigator and head of the Genome Informatics Section at the National Human Genome Research Institute (NHGRI). His lab develops efficient computational methods for analyzing DNA sequencing data, including tools for genome assembly, genome alignment, genome clustering, microbial forensics, and metagenomics. He is a co-founder of the Telomere-to-Telomere Consortium and the Vertebrate Genomes Project, which seek to enable the complete and gapless assembly of human and all other vertebrate genomes. In 2019, he was awarded the US Presidential Early Career Award for Scientists and Engineers. His lab’s homepage can be found at https://genomeinformatics.github.io/
Daniela Lourenco is an Associate Professor in Animal Breeding, Genetics, and Genomics at the University of Georgia in the United States. She has been working in this field since 2004 and her current interests include the use of genomic information to increase rates of genetic progress, the development of methods for genomic evaluations, and the use of computational algorithms to analyze large data. Her research group has been working on genomic selection in beef and dairy cattle, swine, poultry, and fish. They have been involved in the development and implementation of single-step genomic evaluations for several breeding companies and breed associations. The software and algorithms developed by her group are being used for genomic evaluations around the world.
Zach Lippman is a Professor of Plant Biology at Cold Spring Harbor Laboratory (CSHL) and a Howard Hughes Medical Institute (HHMI) Investigator. His research group integrates genetics, development, genomics, and genome editing to study flowering and flower production in nature and agriculture. Taking advantage of natural and induced variation in these processes in tomato and related Solanaceae plants, Lippman’s group has shown how stem cell proliferation and maturation underlie diversity in vegetative and reproductive shoot systems. Identifying the genes and mechanisms underlying this diversity have led to broader exploration on the roles of structural variation, gene regulation, and epistasis in development, domestication, and breeding. Based on these discoveries, Lippman is developing and applying innovative concepts and tools for crop improvement. His contributions to plant genetics and genome editing were recognized with receiving a MacArthur Fellowship and the US National Academy of Sciences Award in Food and Agriculture.
Dr. Segenet Kelemu, is the Director General & CEO of the International Centre of Insect Physiology and Ecology (icipe) Nairobi, Kenya. She is the fourth Chief Executive Officer, and the first woman to lead icipe. After more than 25 years in the United States of America and Latin America applying cutting-edge science that saw her garner numerous professional and state honours for an exceptional career as a scientist, Dr Kelemu, returned from the diaspora in 2007 to contribute to Africa’s development. Dr. Kelemu is a 2014 L’Oréal-UNESCO Laureate for Women in Science Awards, and one of the top 100 most influential African women featured in the May 2014 Edition of Forbes Africa. Dr. Kelemu was listed among the 10 most influential African women in agriculture by the Journal of Gender, Agriculture and Food Security.
In January 2018, she was recognised by Bill Gates, as one of five ‘Heroes in the Field’ who are using their talents to fight poverty, hunger and disease, and providing opportunities for the next generation. In April 2018, the Women Economic Forum awarded Dr. Kelemu their highest award “Woman of the Decade in Natural and Sustainable Ecosystems” for outstanding leadership. In 2018, she has been featured in The CEO Magazine, Australia, as one of the six exceptional leaders from around the world, breaking ground and shattering the glass ceiling.
She has also received other awards and recognitions including the TWAS Prize for Agricultural Sciences (2011) and an Honorary Doctorate from Tel Aviv University for her professional contributions to society (2015). She is also a recipient of the College of Agriculture Alumni Fellow of Kansas State University, USA (2019; the Science Honoree of the Donald Danforth Plant Science Center in St Louis, Missouri, USA (2019); International Fellow of the Royal Swedish Academy of Agriculture and Forestry (2020); the Ellis Island Medal of Honor, New York (2020); and the 2020 TWAS Regional Award for establishment of vibrant scientific institutions. In 2020, she was recognized and featured by UN Women as one of seven women “Devoted to discovery: seven women scientists who have shaped our world”; and by The International Climate Change Development Initiative as one of “five African women scientists to celebrate.”
She serves in various Boards, advisory panels in major global initiatives and has served in international juries of key science awards. She is a Fellow of various Academies of Sciences. She has been featured in CNN African Voices, the Mind of the Universe, the BBC, the East African, Selamta Magazine (an inflight magazine), Le Monde among others.
Dr. Carol Ibe is a Postdoctoral Scientist working on sustainable wheat production at the John Innes Centre in Norwich, United Kingdom. She obtained a PhD in Plant Sciences from the University of Cambridge where she was a Gates Scholar. Originally from Nigeria, Carol understands the urgent need to develop adequate scientific research capacity to accelerate sustainable food production in African nations. This inspired her to set up the JR Biotek Foundation, a non-profit organisation dedicated to upskilling a new cadre of African scientists who can innovatively apply modern biotechnologies to improve local crops.
Carol has developed several initiatives including the Africa Bio-Venture Creation project, the UK-Africa Food Security Summit, and the Reach & Teach Science in Africa flagship program, which mobilises leading research experts to train early-career agricultural research scientists in African universities and research institutes. Carol has forged and co-led partnerships between the UK, particularly, the world-famous University of Cambridge and research institutions in Nigeria, Ghana, Kenya and Benin Republic with multiple Global Challenges Research Fund (GCRF) awards.
Carol’s outstanding research, leadership and absolute commitment to improving lives and systems has led to several awards including the 2019 Bill Gates Sr. Prize and the University of Cambridge’s Society for the Application of Research Awards (CSAR).
Joanne Chory is a Howard Hughes Medical Investigator, professor and director of the Plant Biology Laboratory, Co-director of the Harnessing Plants Initiative at the Salk Institute for Biological Studies and the Howard H. and Maryam R. Newman Chair in Plant Biology.
Edward S. Buckler is a USDA-ARS Research Geneticist and adjunct professor in Plant Breeding and Genetics at Cornell University with an educational background in molecular evolution and archaeology. His group’s research uses genomic, computational, and field approaches to dissect complex traits and accelerate breeding in maize, sorghum, cassava, and a wide range of other crops. With these technologies applied to over 2000 species, now the Buckler group focuses on exploring ways to re-engineer global agricultural production systems to ensure food security, improve nutrition, and respond to climate change. With the USDA-ARS, he leads an informatics and genomics platform to help accelerate breeding for specialty crops and animals. His contributions to quantitative genetics and genomics were recognized with election to the US National Academy of Sciences and as recipient of the inaugural NAS Food and Agriculture Award.
Julia Bailey-Serres is a plant biologist known for her research on mechanisms of plant adaptive responses to environmental stresses. She is recognized for the in-depth dissection of the function of SUBMERGENCE 1A gene, responsible for survival of rice plants under prolonged submergence as evidenced by its successful use in breeding programs that has led to stabilizing rice grain yield in flood-prone regions of Asia. In addition, she established technologies to uncover the activity of genes in specific cell types of multicellular organisms, through the capture of ribosomes and the associated mRNAs. Bailey-Serres was born and raised in California, graduated from the University of Utah with a BS in biology and the University of Edinburgh with a PhD in botany. She began to work on anaerobiosis and mRNA translation as a postdoctoral researcher at the University of California, Berkeley, an interest she has maintained as a faculty of the University of California, Riverside since 1990. She has mentored 20 postdoctoral researchers and 19 doctoral students and currently directs the Center for Plant Cell Biology. Bailey-Serres is a fellow of the American Association for the Advancement of Science and American Society of Plant Biologists (ASPB). She has served as Secretary for ASPB and as an Associate editor for several journals.
Dr. Sabeti’s lab focuses on developing new analytical and genomic methods to study evolutionary adaptation and genetic diversity in humans and pathogens, with three current research foci: (1) Identifying and characterizing the underlying adaptive changes that have shaped the human species over time; and (2) Investigating genetic diversity in pathogens such as Lassa virus, Ebola virus, Zika virus, and Babesia microti, towards improved diagnostics, surveillance, and interventions, and (3) Developing novels tools to detect and diagnose microbes causing human morbidity and mortality.
Professor Dame Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.
Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.
Karen Miga, assistant professor of biomolecular engineering at UC Santa Cruz, was named one of the 100 most influential people of 2022 by TIME. The honor was announced on May 23.
Miga and her colleagues, Adam Phillippy, Evan Eichler, and Michael Schatz, led an international team of scientists — the Telomere-to-Telomere (T2T) Consortium — to complete the first, gapless sequence of the human genome. Parts of the human genome are now available to study for the first time, allowing researchers to better understand genetic diseases, human diversity, and evolution.
The gaps now filled by the new sequence include the entire short arms of five human chromosomes and cover some of the most complex regions of the genome. These include highly repetitive DNA sequences found in and around important chromosomal structures such as the telomeres at the ends of chromosomes and the centromeres that coordinate the separation of replicated chromosomes during cell division. The new sequence also reveals previously undetected segmental duplications, long stretches of DNA that are duplicated in the genome and are known to play important roles in evolution and disease.
Jennifer Doudna, a biochemist and winner of the 2020 Nobel Prize in Chemistry, wrote of her admiration for Miga and T2T Consortium. “The complete human genome sequence is an invaluable resource that may provide new insights into the origin of diseases and how we can treat them. It also offers the most complete look yet at the genetic script underlying the very nature of who we are as human beings.”
Looking forward, Miga and the T2T Consortium have joined with the Human Pangenome Reference Consortium, which aims to create a new “human pangenome reference” based on the complete genome sequences of 350 individuals.
The standard reference genome (GRCh38) does not represent any one individual but was assembled from multiple donors. Merging them into one linear sequence created artificial structures in the sequence. The Human Pangenome Project will make it possible to compare newly sequenced genomes to multiple complete genomes representing a range of human ancestries.
Miga is joined on TIME’s list of the Top 100 Most Influential People of 2022 by Oprah Winfrey, Volodymyr Zelensky, Ketanji Brown Jackson, Mary J. Blige, Emmett Schelling, and many others. The 2022 TIME100 list is chosen by TIME editors.
Winston Timp, an associate professor of biomedical engineering, focuses on the development and application of sequencing technologies to gain a deeper understanding of biology and a more accurate set of clinical tools for human disease. He holds joint appointments in the Department of Molecular Biology and Genetics and the Division of Infectious Diseases at the Johns Hopkins University School of Medicine.
Timp’s research integrates the principles of biophysics, molecular biology and computational biology to create new tools for exploring the epigenomes and genomes of different lifeforms ranging in size from the flu virus to hummingbirds to California redwoods. Based on the knowledge gained from these studies, Timp and his team apply their toolsets to clinical samples for the diagnosis, surveillance, and treatment of human disease.
Recent projects range from using nanopore sequencing to diagnose infectious disease, characterizing the epigenome of colon cancer, reading the transcriptome of the hummingbird, and assembling the genome of the giant sequoia. Timp holds two licensed patents for his work and was awarded a $2 million grant in 2017 and another $3 million grant in 2019 as part of the “Novel Nucleic Acid Sequencing Technology Development” project funded through the National Human Genome Research Institute. He is also part of a Human Frontier Science Program grant on the extreme metabolism of hummingbirds and a National Science Foundation Industry-University Cooperative Research Centers (IUCRC) consortium grant on Chinese hamster ovary (CHO) cell genomics and epigenomics.
Timp is a member of the Biophysical Society, Institute of Electrical and Electronics Engineers, and the American Society of Genetics, and sits on the editorial board for Epigenetic Insights and is a bioRxiv Affiliate. He was part of cross-divisional teams that won Johns Hopkins Discovery Awards in 2017 for a project resolving transcriptome architecture using single molecule direct RNA sequencing, in 2016 for exploring the “essentialome” of the Candida glabrata organism, and in 2015 for a project using sequencing-based transcription factor binding quantification for synthetic biology. He also received a Johns Hopkins Catalyst Award in 2016 for his work in nanopore sequencing.
Timp received bachelor’s degrees in biochemistry, chemistry, physics and electrical engineering from the University of Illinois at Urbana in 2001 and 2002. He then earned his master’s degree and PhD in electrical engineering from the Massachusetts Institute of Technology, where he worked at the Whitehead Institute, focusing his thesis work on the study of cellular communication in a 3-D microenvironment. After receiving his doctorate, Timp trained as a postdoctoral fellow at Johns Hopkins, studying the epigenetics of cancer. He joined the faculty of the Whiting School of Engineering in 2013.
Dr. Miller joins UBC from the Hospital for Sick Children in Toronto, where she was a Senior Scientist and Professor at the University of Toronto. She is a Fellow of the Royal Society of Canada and of the American Association for the Advancement of Science and at the Hospital for Sick Children she was a Howard Hughes Medical Institute International Research Scholar and the Canada Research Chair in Developmental Neurobiology. Most recently, Dr. Miller’s accomplishments were recognized by the naming of the “Dr. Freda Miller” public school by the Calgary Board of Education.
Dr. Miller is best known for her work on dermal and neural stem cells and on mechanisms that regulate neuronal survival and growth. Her discovery of dermal stem cells provided insights into the mechanisms underlying skin maintenance and repair and contributed to providing the conceptual basis for using skin as a major source for genesis of human stem cells. At the same time, Dr. Miller discovered new mechanisms determining whether nerve cells live or die, findings that have implications for our understanding of neurodegenerative disorders.
Finally, Dr. Miller has made significant contributions to understanding how stem cells build the brain during normal development and how this goes awry in neurodevelopmental disorders. This led to her recent discovery that the commonly used diabetes drug metformin can recruit endogenous neural precursors and in so doing can promote repair of the injured brain. Together, these discoveries led to clinical trials for therapies that “wake up” our own stem cells to repair the injured brain and skin and to the co-founding of two biotechnology companies.
Alex Cagan investigates evolutionary processes in somatic tissue. His research focuses on characterising mutation and selection in healthy tissues and how this relates to cancer and ageing. Evolution is often considered to be an almost imperceptibly slow process. However, the cells that compose our own bodies are constantly acquiring mutations. Some of these mutations may influence cellular phenotypes, such as growth, resulting in clonal expansions. Over time the body may become a patchwork of clones.
These processes may have profound implications for cancer progression and ageing. Due to technical limitations this evolutionary landscape has remained almost totally unexplored. I work with laser capture microdissection and genome sequencing to describe and understand processes of somatic evolution. I seek to adapt methods from comparative evolutionary genomics to gain new insights into evolution within the body.
Duncan MacCannell is the chief science officer for the CDC’s Office of Advanced Molecular Detection (OAMD), where he helps coordinate the implementation and support of pathogen genomics, bioinformatics, high-performance computing and other innovative laboratory technologies across the CDC’s four infectious disease centers. With a broad focus on public health laboratory science and strategic innovation, he manages the agency’s high performance computing center of excellence, and works to integrate standardized, sustainable capacity for advanced laboratory technologies and scientific computing into routine public health practice.
Dr. Benedict Paten is an associate professor in the Department of Biomolecular Engineering at the University of California Santa Cruz (UCSC) and an associate director of the UC Santa Cruz Genomics Institute. He oversees the Computational Genomics Lab and Computational Genomics Platform groups at UCSC, which together are broadly focused on computational genomics, creating algorithms, software, and services addressing biomolecular challenges. He has a Ph.D. from the University of Cambridge and the European Molecular Biology Laboratory in computational biology
Love Dalen’s general research interests are focused on the use of DNA technology to investigate the ecology and evolution of different species, and how past environmental changes have determined the distribution and abundance of organisms.
At present, the work we are doing in Stockholm is aimed at investigating how genetic variation, population structure and population size have changed over time, especially in the context of changes in climate during the Late Pleistocene (i.e. the last ice age). We are currently working on several projects on different wild animals, for example lemmings, mammoths, rhinos and cave lions.
Eric Venner is a computational biologist with expertise leading teams of genomic scientists, bioinformaticians and software engineers spanning projects that encompass NGS data analysis, high-throughput genomic variant interpretation, clinical reporting and protein function prediction. He is the Director of Clinical Informatics for the Human Genome Sequencing Center’s Clinical Laboratory at the Baylor College of Medicine, where he is responsible for the architecture, development and maintenance of clinical reporting and bioinformatics pipelines that are in use for multiple genomic medicine projects, including the NIH’s All of Us Research Program and the INSIGHT study in epilepsy and previously for the eMERGE Network, the KidsCanSeq project in collaboration with Texas Children’s Hospital as part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, the Right10K pharmacogenomics collaboration with the Mayo Clinic, and the HGSC’s HeartCare test. A particular focus is on tools for assessing potential pathogenic genetic variation in a high-throughput manner as well as interoperability with external clinical systems.
Dr. Kaitlin Samocha is an Assistant Professor at Massachusetts General Hospital and an Associated Scientist at the Broad Institute of MIT and Harvard. She is on the steering committee for the Genome Aggregation Database (gnomAD), one of the world’s largest publicly available collections of human genetic variation data. The focus of her research career has been on developing methods and statistical tools to improve the interpretation of genetic variation, particularly rare variation.
She created a mutational model to predict the expected number of newly arising (de novo) variants that have been leveraged to associate dozens of genes with autism spectrum disorders, congenital heart disease, and schizophrenia, among others. As a way to aid variant interpretation, Dr. Samocha developed metrics to measure a gene’s tolerance to mutational changes, including the PLI score that was used to identify thousands of genes intolerant to loss of a single functional copy. Additionally, she led an international consortium studying developmental disorders and identified ~300 significantly associated genes, including 28 that had not been robustly tied to these disorders.
Dr. Samocha received her Ph.D. in Genetics and Genomics in 2016 from Harvard University and trained as a postdoctoral fellow at the Wellcome Sanger Institute.
Richard Scott is Chief Medical Officer at Genomics England. He joined the organization in 2015. He is also a Consultant and Honorary Associate Professor in Clinical Genetics at Great Ormond Street Hospital for Children and the UCL Institute of Child Health where his practice focuses on diagnosing children with rare multisystem disorders. Richard trained in medicine at Cambridge University and University College London. He specialized in Paediatrics and subsequently Clinical Genetics in London and completed his Ph.D. in childhood cancer syndromes at the Institute of Cancer Research. Through his clinical practice and in his role at Genomics England he is passionate about harnessing the power of new genomic technologies for the benefit of all patients in mainstream healthcare.
Dr Lennon received a Ph.D. in Pharmacology from University College Dublin and completed his Postdoctoral studies at Harvard Medical School and Massachusetts General Hospital. He holds an executive certificate in management from the MIT Sloan School of Management. Lennon is also an Adjunct Professor of Biomedical Engineering at Tufts University.
Augusto is a physicist by background. He did his Ph.D. at the University of Toronto in Medical Biophysics. He then moved to do post-doctoral work in Prof. Willem Ouwehand’s laboratory at the University of Cambridge. There, he used statistical genomics approaches to elucidate the mechanisms of blood formation and platelet function in humans, working with a variety of experimental techniques including functional genomics assays, epigenomics, RNAseq, and DNAseq. A cross between a scientist and an engineer, Augusto divides his time between mentoring his team, infusing bioinformatics and data science across everything that Genomics England does, and spending time with his family.
Dr Daniel MacArthur is the Director of the Centre for Population Genomics, based jointly at the Garvan Institute of Medical Research, Sydney and the Murdoch Children’s Research Institute in Melbourne.
Daniel completed his PhD at the University of Sydney before moving to postdoctoral studies at the Wellcome Trust Sanger Institute in Cambridge, UK, and then a faculty position at Harvard Medical School, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard in Boston. In this position he co-directed the Broad Institute’s Program in Medical and Population Genetics, as well as the NIH-funded Center for Mendelian Genomics, which sequenced the exomes, genomes, and/or transcriptomes of over 10,000 individuals from families affected by severe Mendelian disease. He also led the Genome Aggregation Database (gnomAD) consortium, which produced the world’s largest catalogues of human genetic variation, spanning nearly 200,000 individual exomes and genomes.
Daniel returned to Australia in 2020 to lead the new Centre for Population Genomics, which will focus on developing tools and resources useful for the implementation of population-scale genomic medicine in Australia.
Dr. Stephan Sanders trained as a pediatric physician in the UK before undertaking a PhD and postdoctoral research position at Yale. He is now an Associate Professor at UCSF in the Department of Psychiatry. His research focuses on using genomics and bioinformatics to understand the etiology of developmental disorders, such as Autism Spectrum Disorder (ASD).
As a member of Dr. Matthew State’s lab, he worked with the Simons Simplex Collection Genomic Consortium (SSCGC) to quantify the role of de novo copy number variants (CNVs) in ASD, including discovering that de novo duplications at 7q11.23 are an ASD risk factor (Sanders et al. Neuron 2011). He also used exome sequencing to show that de novo protein-truncating variants PTVs (also called loss-of-function (LoF) mutations) are associated with ASD. This analysis established a statistical framework for identifying the specific genes involved in ASD pathology, based on these de novo events, discovering that the voltage-gated sodium channel SCN2A is an ASD risk gene (Sanders et al. Nature 2012).
As UCSF’s first vice chancellor for Science Policy and Strategy, Keith Yamamoto leads efforts to anticipate the needs of an increasingly dynamic biomedical research endeavor, and to position UCSF optimally, by working within the University as well as influencing and shaping science policy at the state and national levels and beyond.
Throughout his career, Yamamoto has been focused on the practice of science, science education and mentoring, peer review, communication of science, and advocacy for federal support for research. He also directs a basic research lab, making groundbreaking discoveries focused on signaling and transcriptional regulation by nuclear receptors.
Yamamoto has long been a voice for science policy that emphasizes integration at three levels:
He believes that such integration will produce transformative scientific advances with the potential to address urgent societal challenges.
After earning his Ph.D. from Princeton University, Yamamoto joined the UCSF faculty in 1976. He has served in several significant leadership roles including chair of the Department of Cellular and Molecular Pharmacology, vice dean for research in the School of Medicine, and vice chancellor for research. He chaired the committee that led the planning of the UCSF Mission Bay campus.
Yamamoto has chaired or served on numerous national committees focusing on a wide range of areas (i.e., public and scientific policy, public understanding and support of biological research, science education, training the biomedical workforce, research funding, and the process of peer review at the NIH). He chairs the Coalition for the Life Sciences and sits on both the National Academy of Medicine Executive Committee and the National Academy of Sciences Division of Earth and Life Studies Advisory Committee. As Chair of the NAS Board on Life Sciences, he created the study committee that produced Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease, the report that enunciated the precision medicine concept, and he has helped lead efforts to implement it at the state and national level as well as at UCSF.
He is an elected member of the National Academy of Sciences, National Academy of Medicine, American Academy of Arts and Sciences, and American Academy of Microbiology, and is a fellow of the American Association for the Advancement of Science.
Dr. Frazer is an internationally renowned leader in the field of genome biology. She is the director of UC San Diego Institute for Genomic Medicine and is a professor and founding chief of the Division of Genome Information Sciences in the Department of Pediatrics at UC San Diego. Over the past seven years, Dr. Frazer’s lab has systematically derived and characterized a unique collection of iPSC lines from 222 individuals – referred to as iPSCORE (iPSC Collection for Omic Research). The iPSCORE resource is currently being used to conduct genotype – molecular phenotype correlations in both pluripotent stem cells and iPSC-derived cell types.
We have recently completed generating iPSC-derived cardiovascular progenitor cells (CVPCs) from over 135 individuals and are in the process of analyzing how regulatory variants influence the expression of cardiac molecular traits including RNA expression (RNA-seq assays) and chromatin states (ATAC-seq and H3K27ac ChIP-seq assays). We recently established that iPSC-CVPCs are fetal-like, and are leveraging this model system to identify and characterize developmental genetic factors which affect cardiovascular disease later in life by acting in specific fetal cardiac cell types. Overall, our findings provide genetic evidence supporting the fetal origin of cardiovascular disease, provide an analytical framework for identifying fetal acting disease variants by comparing genetic associations across stages of development (i.e. fetal and adult tissues), and show that iPSC-derived tissues can be leveraged to study the function of GWAS variants in relevant cell-types.
Karen Miga, assistant professor of biomolecular engineering at UC Santa Cruz, was named one of the 100 most influential people of 2022 by TIME. The honor was announced on May 23.
Miga and her colleagues, Adam Phillippy, Evan Eichler, and Michael Schatz, led an international team of scientists — the Telomere-to-Telomere (T2T) Consortium — to complete the first, gapless sequence of the human genome. Parts of the human genome are now available to study for the first time, allowing researchers to better understand genetic diseases, human diversity, and evolution.
The gaps now filled by the new sequence include the entire short arms of five human chromosomes and cover some of the most complex regions of the genome. These include highly repetitive DNA sequences found in and around important chromosomal structures such as the telomeres at the ends of chromosomes and the centromeres that coordinate the separation of replicated chromosomes during cell division. The new sequence also reveals previously undetected segmental duplications, long stretches of DNA that are duplicated in the genome and are known to play important roles in evolution and disease.
Jennifer Doudna, a biochemist and winner of the 2020 Nobel Prize in Chemistry, wrote of her admiration for Miga and T2T Consortium. “The complete human genome sequence is an invaluable resource that may provide new insights into the origin of diseases and how we can treat them. It also offers the most complete look yet at the genetic script underlying the very nature of who we are as human beings.”
Looking forward, Miga and the T2T Consortium have joined with the Human Pangenome Reference Consortium, which aims to create a new “human pangenome reference” based on the complete genome sequences of 350 individuals.
The standard reference genome (GRCh38) does not represent any one individual but was assembled from multiple donors. Merging them into one linear sequence created artificial structures in the sequence. The Human Pangenome Project will make it possible to compare newly sequenced genomes to multiple complete genomes representing a range of human ancestries.
Miga is joined on TIME’s list of the Top 100 Most Influential People of 2022 by Oprah Winfrey, Volodymyr Zelensky, Ketanji Brown Jackson, Mary J. Blige, Emmett Schelling, and many others. The 2022 TIME100 list is chosen by TIME editors.
Professor Mulder heads the Computational Biology Division at the University of Cape Town (UCT), and is a full member of the Institute of Infectious Disease and Molecular Medicine. She leads H3ABioNet, a large Pan African Bioinformatics Network of 28 institutions in 17 countries, which aims to develop bioinformatics capacity to enable genomic data analysis on the continent. H3ABioNet has developed an extensive training program for African researchers. She also co-leads a Sickle Cell Disease Data Coordinating Centre and a Wellcome Trust Centre Data Integration Platform at UCT and more recently, the DS-I Africa Open Data Science Platform.
She received her PhD in Medical Microbiology from the University of Cape Town and then worked for 8.5 years at the European Bioinformatics Institute in Cambridge, as a Team Leader. At UCT her research focuses on genetic determinants of susceptibility to disease, African genome variation, and microbial genomics and infectious diseases from both the host and pathogen perspectives. Her group provides bioinformatics services and training and develops new algorithms and resources for the analysis of complex African genetic data. Prof Mulder is actively involved in capacity development, including training, education and curriculum development in Bioinformatics. She also sits on a number of international scientific advisory boards.
Professor Dame Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.
Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.
Phil Febbo, MD, was appointed as Chief Medical Officer in March 2018. In this role, he is responsible for developing and executing the Company’s medical strategy to drive genomic testing into healthcare practice. Febbo has a successful track record of translational research, clinical excellence, and for embedding molecular insights into clinical care.
Immediately before joining Illumina, Febbo served as CMO of Genomic Health. Prior to his five years at Genomic Health, Febbo was a Professor of Medicine and Urology at the University of California, San Francisco (UCSF), where his laboratory focused on using genomics to understand the biology and clinical behavior of prostate cancer, and his clinical practice focused on genitourinary oncology.
Before joining the faculty of UCSF as an associate professor in 2010, Febbo worked at Duke University Medical Center’s Institute of Genome Sciences and Policy. He completed his internal medicine residency at the Brigham and Women’s Hospital, and his fellowship in oncology at the Dana-Farber Cancer Institute. After which he was an Attending Physician in the Genitourinary Oncology Center at Dana-Farber, Instructor at Harvard Medical School, and a post-doctoral fellow in Todd Golub’s laboratory at Dana-Farber, as well as the Whitehead Institute Center for Genomic Research of MIT (now the Broad Institute). Throughout his career, Febbo has served as a primary investigator for the Translational Research Program of The Alliance, an NCI-supported cooperative group, where his work focused on incorporating biomarkers into large clinical trials.
Febbo holds a Bachelor of Arts degree in Biology from Dartmouth College and an M.D. from UCSF.
Stephen B. Montgomery is an Associate Professor of Pathology, Genetics and, by courtesy, Computer Science at Stanford University. His laboratory focuses on both functional genomics and bioinformatics approaches to understanding the molecular origins of rare and common genetic diseases. Montgomery has been an active member of multiple large-scale consortia including GREGoR, GTEx and MoTrPAC. His laboratory has developed novel transcriptome-based approaches to identifying impactful rare variants in individuals, families and populations and for measuring gene-by-environment effects.
Diana W. Bianchi is the Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and a Senior Investigator in the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI). She received her M.D. from Stanford and her postgraduate training in Pediatrics, Medical Genetics and Neonatal-Perinatal Medicine at Harvard.
Bianchi’s research focuses on noninvasive prenatal screening and development of novel fetal therapies for genetic disorders. She has published over 350 peer-reviewed articles and is one of four authors of Fetology: Diagnosis and Management of the Fetal Patient, which won the Association of American Publishers award for best textbook in clinical medicine in 2000. She has held multiple leadership positions, including Presidents of the International Society for Prenatal Diagnosis (ISPD) and the Perinatal Research Society, council memberships in the Society for Pediatric Research (SPR) and the American Pediatric Society, as a member of the board of directors in the American Society for Human Genetics. She served as the Editor-in-Chief of the journal Prenatal Diagnosis from 2007-2020.
Bianchi has received the Neonatal Landmark Award from the American Academy of Pediatrics, the Maureen Andrew Award for Mentorship from the SPR, the Colonel Harland Sanders Award for lifetime achievement in Medical Genetics, the Pioneer Award from ISPD, and the Health Public Service Visionary Award from the Society for Women’s Health Research. In 2013 she was elected to the National Academy of Medicine. She received an honorary Ph.D. from the University of Amsterdam in 2020.
Allyson Berent is a veterinary internal medicine specialist who serves as the Director of Interventional Endoscopy Services at the largest animal hospital in the world, The Animal Medical Center, in New York City. After graduating from Cornell University College of Veterinary Medicine she completed an internship at the University of Minnesota and a residency in Small Animal Internal Medicine at the Veterinary Hospital of the University of Pennsylvania.
After completing a fellowship in interventional radiology at the Veterinary Hospital of the University of Pennsylvania, a fellowship in Endourology at Thomas Jefferson University, and an Interventional radiology fellowship at the Hospital of the University of Pennsylvania, she served as an Adjunct Assistant Professor in Internal Medicine and Interventional Radiology/ Interventional Endoscopy at the Matthew J. Ryan Veterinary Hospital of the University of Pennsylvania. Berent has a particular focus on medical device development, stem cell therapy through regenerative medicine and selective arterial delivery, ureteral diseases, urinary incontinence and minimally invasive management of upper tract urinary obstructions and biliary obstructions.
In 2014 Berent’s daughter was diagnosed with a rare non-degenerative neurogenetic disorder called Angelman syndrome. In October of 2015 she joined to Board of Directors as a Scientific Director for the Foundation for Angelman Syndrome Therapeutics (FAST), and in March of 2016 became the Chief Science Officer for the Foundation. Berent helped to spearhead the development of a pre-competitive biomarker and outcome measure consortium in order to bring patient focused outcome measures forward for human clinical trials (Angelman Syndrome Biomarker and Outcome Measure Consortium-ABOM) and now serves as the Director of this consortium.
Berent Co-Founded the International Angelman Syndrome Research Council (INSYNC-AS). Through FAST, Berent collaborated with a consortium of scientists to encourage translational research opportunities, in order to help bring novel genetic therapies forward toward human clinical trials. Through this work, with the foundation, Berent co-founded GeneTx Biotherapeutics, a company singularly focused to advance an antisense oligonucleotide (ASO) therapy through IND enabling studies and a phase 1/2 clinical trial. Berent currently serves as the Chief Operating Officer of GeneTx Biotherapeutics, who partnered with Ultragenyx Pharmaceuticals in August of 2019. The Phase 1/2 clinical trial started enrolling patients in February 2020 as the first intrathecally delivered ASO for Angelman syndrome, a study of safety and tolerability of GTX-102.
Born in Scotland, Ashley graduated with 1st class Honors in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. His group is focused on the science of precision medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The article became one of the most cited in clinical medicine that year and was later featured in the Genome Exhibition at the Smithsonian in DC. Over the following 3 years, the team extended the approach to the first whole genome molecular autopsy, to a family of four, and to a case series of patients in primary care. They now routinely apply genome sequencing to the diagnosis of patients at Stanford hospital where Ashley directs the Clinical Genome Program and the Center for Inherited Cardiovascular Disease.
Ashley has a passion for rare genetic disease and was the first co-chair of the steering committee of the Undiagnosed Diseases Network. He was a recipient of the National Innovation Award from the American Heart Association and the NIH Director’s New Innovator Award. He is part of the winning team of the $75m One Brave Idea competition and co-founder of three companies: Personalis Inc ($PSNL), Deepcell Inc, and SVExa Inc. He was recognized by the Obama White House for his contributions to Personalized Medicine and in 2018 was awarded the American Heart Association Medal of Honor for Genomic and Precision Medicine. He was appointed Stanford Associate Dean in 2019. In 2021, his first book The Genome Odyssey – Medical Mysteries and the Incredible Quest to Solve Them was released. Father to three young Americans, in his ‘spare’ time, he tries to understand American football, plays jazz saxophone, and conducts research on the health benefits of single malt Scotch whisky.
Sharon F. Terry is President and CEO of Genetic Alliance, an enterprise engaging individuals, families and communities to transform health. Genetic Alliance works to provide programs, products, and tools for ordinary people to take charge of their health and to further biomedical research.
As ‘just a Mom’ with a master’s degree in theology, she cofounded PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE), in response to the diagnosis of PXE in her two children in 1994. She is a co-discoverer of the ABCC6 gene, and patented it to ensure ethical stewardship in 2000, assigning her rights to the foundation. She subsequently developed a diagnostic test and conducts clinical trials. She is the author of 150 peer-reviewed papers, of which 30 are clinical PXE studies. Her story is the topic of her TED Talk and TED Radio Hour.
In her focus at the forefront of consumer participation in genetic research, services and policy, she serves in a leadership role on many of the major international and national organizations, including the Precision Medicine Initiative Cohort Advisory Panel; Accelerating Medicines Partnership; National Academy of Medicine Roundtable on Genomics and Precision Health; the PhenX scientific advisory board; the Global Alliance for Genomics and Health; the International Rare Disease Research Consortium Executive Committee; Genome Medical; LunaDNA; and as Founding President of EspeRare Foundation of Geneva, Switzerland. Terry is co-founder of the Genetic Alliance Registry and Biobank. She is the chair of the National Academy of Medicine Health Sciences Policy Board. She is on the editorial boards of several journals, including Genome, Patient Engagement Editor for Genetic Alliance’s official journal Genetic Testing and Molecular Biomarkers, Chief Patient Advisor for Clinical and Translational Science. She led the coalition that was instrumental in the passage of the Genetic Information Nondiscrimination Act. She received an honorary doctorate from Iona College for her community engagement work in 2006; the 2011 Research!America Distinguished Organization Advocacy Award and an inaugural member of Disruptive Women in Health Care in 2009; and the Clinical Research Forum and Foundation’s Annual Award for Leadership in Public Advocacy in 2011. She was named one of FDA’s “30 Heroes for the Thirtieth Anniversary of the Orphan Drug Act” in 2013. She is co-inventor of the Platform for Engaging Everyone Responsibly (PEER), receiving a large grant from the Robert Wood Johnson Foundation in 2014. She was Co-PI of the PCORnet Coordinating Center and Chair of the PCORnet Engagement Committee. She was a member of the Blue Ribbon Panel’s Working Group on Enhanced Data Sharing for the Cancer Moonshot. She was named a National Associate of the National Research Council, National Academies of Engineering, Sciences, and Medicine for her extraordinary service. She received the Health 2.0 Health Activist award in 2016. In 2017, she co-founded the People Centered Research Foundation. In 2019, she won the Luminary Award from the Precision Medicine World Conference. In 2021, she was awarded the American Society of Human Genetics Advocacy Award.
Terry is an Ashoka Fellow. She is an avid student and facilitator of Gestalt Awareness Practice, offering workshops and individual facilitation. Her daughter and son are why she started down this path. They, their wives, and her granddaughter ground and enliven her.
Sharon F. Terry • sterry@geneticalliance.org • 202.966.5557
Hamish S. Scott, BSc (Hons), PhD, FFSc (RCPA), FAHMS, has transformed his department from being largely diagnostic (40 people) to being a dynamic academic/diagnostic department integrated with basic and clinical research. His department has 35 full-time research personnel and is active in student (science and medical) placements, training (PhDs, registrars, overseas post-docs) and clinical trials. His passion is linking research to diagnostics and clinical translation. He has been imbedded within diagnostic units for all but 8 of his 35 year laboratory career.
He has helped develop and introduce new technologies for both somatic and germline genotyping for improved diagnoses and treatment of cancers and genetic diseases including national and international firsts, for which his team has won several prizes. He has substantive experience of functional studies, modelling diseases, in vitro, ex vivo and in vivo using molecular, cellular and mice models. He is on the National Steering Committee (NSC) and SA leader of Australian Genomics (Health Alliance). He is the co-leader of national and international projects such as national Australian study to identify genetic causes of perinatal death.
I am an Assistant Professor in the Department of Pediatrics at UC San Diego. My research interests include pregnancy and early childhood determinants of health. I also am interested in the expansion of methodology to characterize complex exposures across gestation, including substances (alcohol, marijuana) and medications. I am a co-investigator of the Study of Mothers and Infants, a large administrative database linked to biospecimens allowing us to study genetic and environmental contributors to pregnancy and child outcomes.
We are no longer accepting nominations for 2020 speakers, but check back in 2021!