
Allyson Berent
The Animal Medical Center
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.

Lyn Chitty
NIHR GOSH Biomedical Research Centre
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.

Melina Claussnitzer
Broad Institute
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.

Joseph G. Gleeson
University of California, San Diego
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.

Todd Golub
Broad Institute
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.

Claudia Gonzaga-Jauregui
International Laboratory for Human Genome Research
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.

Peter J. Hulick
Northshore University Health System
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.

Elaine Mardis
Institute for Genomic Medicine at Nationwide Children’s Hospital
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.

Karen Miga
University of California, Santa Cruz
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.

Danny Miller
University of Washington
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.

Alexandre Reymond
Université de Lausanne and Past President ESHG
Alexandre Reymond carried out his thesis in the laboratory of Dr. Viesturs Simanis at the Swiss Institute for Experimental Cancer Research (ISREC) and received his Ph.D. from the University of Lausanne in 1993. After completion of his postdoctoral training with Dr Roger Brent in the Department of Molecular Biology, Massachusetts General Hospital and in the Department of Genetics, Harvard Medical School in Boston, he moved to the Telethon Institute of Genetics and Medicine (TIGEM) in Milan in 1998 to lead a research group.

Luke Rosen
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 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.

Charles Rotimi
National Human Genome Research Institute
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.

Michael Schatz
Johns Hopkins University
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.

Lea Starita
University of Washington
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.

Yufeng Shen
Columbia University
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.