To contact The Genome Partnership or for questions about AGBT please use the email form or email Leisa Zigman, President at leisaz@agbt.org, call her at (314) 332-1180 or mail her at The Genome Partnership, 3730 Foundry Way, Suite 218, Saint Louis, Missouri 63110
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.
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