Elinor Karlsson, PhD, is associate professor in Bioinformatics and Integrative Biology at the UMass Chan Medical School, and director of Vertebrate Genomics at the Broad Institute of MIT and Harvard. Her research combines new technology, community science and genomics to investigate diseases and discover the origins of exceptional mammalian traits. Dr. Karlsson’s research includes the Zoonomia project, an international effort to compare the genomes of over 240 mammals (from the African Yellow-spotted Rock Hyrax to the Woodland Dormouse), to identify segments of DNA that are important for survival and health. Dr. Karlsson has a special interest in dog genetics, and her international Darwin’s Ark project invites all dog owners to enroll their dogs in an open data research project exploring the genetic basis of behavior, as well as diseases such as cancer.

Elinor received her B.A. in biochemistry/cell biology and her B.F.A. (Bachelor of Fine Arts) from Rice University, and earned her Ph.D. in bioinformatics from Boston University. She was a postdoctoral fellow with Pardis Sabeti at Harvard University before starting her research group at UMass Chan in 2014.

As an Associate Professor at Baylor College of Medicine, Dr. Bonnen is applying her acumen in bioinformatics and human genetics to gene discovery studies for an array of phenotypes and diseases including disorders caused by mitochondrial dysfunction and cancer. The Bonnen lab develops and applies methods for analyzing next-generation sequence data and interpretation of human variation. We collaborate closely with clinicians to translate our findings to clinical and diagnostic settings.

Specialties: human genetics, genomics, functional genomics, bioinformatics, population genetics, mitochondrial disease, metabolic disease, cancer, NGS

Dr. Kimberly Doheny is an Associate Professor of Genetic Medicine and Pathology at the Johns Hopkins University School of Medicine.  She is Director of the Center for Inherited Disease Research, Co-Director of Johns Hopkins Genomics, Co-Director of the Kennedy Krieger Institute Intellectual Developmental Disabilities Research Center Genomics Core and Director of the Laboratory Genetics and Genomics Fellowship program.  She received her PhD in Human Genetics in 1993 from Johns Hopkins University and she is board certified in Clinical Molecular Genetics and Clinical Cytogenetics.  Dr. Doheny has co-authored over 120 peer-reviewed publications in the area of complex trait genetics, Mendelian gene discovery, and high-throughput genomics.   She is currently the lead Principal Investigator for the CIDR Program trans-NIH contract and Co-PI of the Baylor-Hopkins Clinical Genomics Center for All of Us.

Dr. Eric Green is the Director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). He is the third NHGRI Director, having been appointed by NIH Director Dr. Francis Collins in 2009.

Dr. Green has been at the Institute for more than 25 years, during which he has had multiple key leadership roles. He served as the Institute’s Scientific Director for 7 years, Chief of the NHGRI Genome Technology Branch for 13 years, and Founding Director of the NIH Intramural Sequencing Center for 12 years.

For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes.

Dr. Green earned his M.D. and Ph.D. degrees in 1987 from Washington University in St. Louis; coincidentally, the word “genomics” was coined in that same year.

During his career, Dr. Green has authored and co-authored over 375 scientific publications.

Dr. Hirst is a Senior Scientist and Head of Epigenomics at Canada’s Michael Smith Genome Sciences Centre at BC Cancer, Associate Professor in the Department of Microbiology and Immunology and Associate Director of the Michael Smith Laboratory at the University of British Columbia (UBC).

His research focuses on understanding epigenetic dysfunction in cancer and his laboratory develops experimental and computational tools to characterize normal and transformed cell types down to the single cell level. He applies these tools to explore the epigenomic states of normal and transformed cell types to discover and exploit therapeutic vulnerabilities.

Over the last decade, he has led the development of an internationally recognized epigenomic research program at BC Cancer and UBC. He leads the Centre of Epigenomic Mapping Technologies (CEMT) that represents one of two Canadian epigenomic mapping centres funded as part of the CIHR signature initiative: the Canadian Epigenetics, Environment and Health Research Consortium (CEEHRC). Dr. Hirst chairs the Scientific Steering Committee of the International Human Epigenome Consortium (ihec.org) and leads the Canadian Epigenetics, Environment and Health Research Consortium Network (epigenomes.ca) with a mandate to drive epigenetic research in Canada and internationally. Dr. Hirst received a TFRI New Investigator Award (2015) and UBC Killam Research Prize (2018) and has been cited over 48,000 times (Clarivate, 2018 Highly Cited Researcher).

Dr. Christopher Mason is a Professor of Genomics, Physiology, and Biophysics at Weill Cornell Medicine and the Director of the WorldQuant Initiative for Quantitative Prediction. He is also co-Founder and global director at Biotia, co-Founder and scientific director at Onegevity, Director of Genomics at Tempus Labs, and recently published The Next 500 Years: Engineering Life to Reach New Worlds.

Dr. Mason develops and deploys computational and experimental methodologies to identify the functional genetic elements of the human genome and metagenome. To do this, we perform research in three principal areas: (1) molecular profiling in patients with extreme phenotypes, including brain malformations, aggressive cancers, and astronauts, (2) creating new biochemical and computational techniques in DNA/RNA sequencing and DNA/RNA base modifications, and (3) the development of new cell and genome modifications. In the very long term, we believe these systems-based methods will enable an understanding of the functional elements of the human genome and embedded metagenome, such that we can begin to repair or re-engineer these genetic networks for ameliorating disease and lay the foundation to enable long-term human spaceflight.

Dr. Mason has won the NIH’s Transformative R01 Award, the NASA Group Achievement Award, the Pershing Square Sohn Cancer Research Alliance Young Investigator award, the Hirschl-Weill-Caulier Career Scientist Award, the Vallee Scholar Award, the International Space Station (ISS) Research and Development Award, the CDC Honor Award for Standardization of Clinical Testing, and the WorldQuant Foundation Scholar Award.  He was named as one of the “Brilliant Ten” Scientists by Popular Science, featured as a TEDMED speaker, and called “The Genius of Genetics” by 92Y. He has written 2 books and >300 peer-reviewed papers, featured on the covers of Nature, Science, Cell, Nature Biotechnology, Nature Microbiology, and Neuron, as well as legal briefs cited by the U.S. District Court and U.S. Supreme Court.  Coverage of his work has also appeared on the covers of the Wall Street Journal, New York Times, TIME, The LA Times, and across many media (ABC, NBC, CBS, Fox, CNN, PBS, NASA, NatGeo). He is an inventor on four patents, co-creator of five FDA-authorized diagnostic tests, founded five biotechnology companies, and he serves as an advisor to 21 others, as well as 3 non-profits. He lives with his daughter and wife in Brooklyn, NY.

Dr. Christopher Mason’s background and appointments:

• S. in Genetics, University of Wisconsin-Madison (2001)
• S. in Biochemistry, University of Wisconsin-Madison (2001)
• D. in Genetics, Yale University (2006)
• Post-doc, Clinical Genetics, Yale Medical School (2009)
• Fellowship of Genomics, Ethics, and Law, Yale Law School (2009).
• Assistant Professor, Weill Cornell Medicine (2009)
• Associate Professor, Weill Cornell Medicine (2015)
• Director, the WorldQuant Initiative for Quantitative Prediction (2017),

Appointments at the Tri-Institutional Program on Computational Biology and Medicine between Cornell, Memorial Sloan-Kettering Cancer Center and Rockefeller University, the Sandra and Edward Meyer Cancer Center, and the Feil Family Brain and Mind Research Institute.

Dr. McPherson is the Deputy Director of the UCD Comprehensive Cancer Center and Professor, Department of Biochemistry and Molecular Medicine. He has deep expertise in DNA sequencing and cancer genomics through his involvement in the Human Genome Project and large-scale tumor sequencing as a founding member of the International Cancer Genome Consortium. Within the ICGC, Dr. McPherson led the whole genome sequencing of >200 pancreatic ductal adenocarcinomas using laser capture microdissected material. His current interests lie in bringing advanced genomic technologies to clinical application in personalized diagnosis and targeted therapeutics; in maximizing the data yield from small biopsies and circulating cell free DNA; and in the role of DNA repair in carcinogenesis.

Stephen Montgomery’s laboratory at Stanford University studies genetic effects on gene regulation and gene expression to identify the molecular and cellular mechanisms which define human traits. They focus on understanding the effects of genome variation on cellular phenotypes and cellular modeling of disease through genomic approaches such as next generation RNA sequencing in combination with developing and utilizing state-of-the-art bioinformatics and statistical genetics approaches.

Federica Di Palma, is a Professor at the University of East Anglia in the United Kingdom and the Founder and Director of Science is Global strategy and consulting.

She is passionate about exploring and preserving Biodiversity around the world. She leads a number of multidisciplinary research programmes which use genomics approaches to understand how evolutionary and environmental pressures have shaped the diversity of vertebrate species with implications for food, environment and livelihoods.

She is a visiting scientist at the Earlham Institute, where she was the former Director of Science, and at Broad Institute in Cambridge Ma (US), where she was previously the Assistant Director of the Vertebrate Genome Biology programme.

Dr. Len Pennacchio is a Senior Scientist at the Lawrence Berkeley Laboratory (LBL), Deputy Director of the DOE Joint Genome Institute, and Adjunct Professor at the University of California Berkeley.  He received his PhD in Genetics from Stanford University in 1998 under Rick Myers and then served as a DOE Alexander Hollaender Distinguished Fellow at LBL under Eddy Rubin. He has authored over 150 publications and received the Presidential Early Career Award for Scientists and Engineers (PECASE) from the White House for his contributions to the Human Genome Project and understanding mammalian gene regulation in vivo. Dr. Pennacchio has an extensive background in mammalian genetics and genomics as well as with DNA sequencing technologies and their application to address outstanding issues in both the biomedical, energy, and environment sectors. He serves in numerous advisory roles such as NHGRI’s Genome Sequencing Program, the Centre for Genomic Research at the University of Liverpool, as a past permanent member of NIH’s GCAT Study Section. He also is an Organizer and Co-Chair of both annual Advances in Genome Biology & Technology (AGBT) meetings as well as a “Systems Biology of Gene Regulation and Genome Editing” meeting hosted by Cold Spring Harbor Asia. Currently his research is heavily focused on understanding the spectrum of DNA mutations that contribute to human disease through in vivo functional studies.

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 have affected and continue to affect this dynamic process. Her work focuses on organisms ranging from influenza to mammoths, asking questions about domestication, admixture, speciation, 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.

Beth Shapiro, Professor of Ecology and Evolutionary Biology at UC Santa Cruz and an HHMI Investigator, uses DNA from the past to study how species evolve and how human activities affect this dynamic process. Beth develops tools to recover and analyze genomic data preserved in organismal remains and the environment, asking questions about domestication, admixture, and pathogen evolution.  As an author and communicator, Beth uses her research as a platform to explore the potential of genomic technologies for conservation and medicine.

Dr. Michael Zody is a computational biologist with over 15 years of experience writing bioinformatic software, analyzing genomic and transcriptomic sequence data, and managing engineers and researchers. He serves as the Scientific Director of Computational Biology at the New York Genome Center.

He started his career at the Whitehead Institute Center for Genome Research (now part of the Broad Institute) during the pilot-sequencing phase of the Human Genome Project. As Manager of Sequencing Informatics at Whitehead, he led informatics efforts associated with production scaling of human genome sequencing. His group built the first fully-automated barcoding and database tracking system for managing high-throughput sequencing workflows. Dr. Zody also oversaw automated assembly, quality control, and public release of ¼ of the draft sequence of the human genome.

After the initial release of the human genome reference sequence, Dr. Zody co-led mouse genome sequencing efforts and was an analysis group leader for both the mouse and chimpanzee genome analysis consortia. He has worked with nearly every extant commercial sequencing platform and has been part of the early evaluation and adoption teams for several platforms ranging from ABI 3700 capillary sequencers to Solexa (now Illumina) Genome Analyzers. He has published over 50 peer-reviewed articles and written 4 book chapters. Dr. Zody received his PhD in medical science from Uppsala University, Sweden, and earned a SB in materials science and engineering and a SM in metallurgy from MIT.

In addition to his research work, Dr. Zody has served on the organizing committee for the Advances in Genome Biology and Technology (AGBT) meeting since 2007. He travels extensively to teach courses on sequencing technology, analysis, and experimental design. Since 2007, he has been an instructor at the Cold Spring Harbor Advanced Sequencing Technologies and Applications course. He has also taught in such diverse locations as the Smithsonian Institution (2010), Uppsala University (Sweden, 2008-2012), and K-RITH (Durban, South Africa, 2013). Dr. Zody teaches an annual Sequencing Informatics Workshop for the scientific community at the New York Genome Center.