Dr. Hardip Patel is a mid-career bioinformatics and genomics researcher with expertise in large scale genomics and molecular biology research. As the Bioinformatics Lead for the National Centre for Indigenous Genomics (NCIG) and a member of National Indigenous Genomics Network, he is responsible for implementing genomics data infrastructure & analytical platforms to enable precision medicine. His research focuses on developing and using innovative computational biology and bioinformatics techniques to assemble genomes and detect variations using population-scale genomic data. He has co-authored 50 research publications (2500+ citations; 22 h-index).

Dr. Rebecca Iskow Torene is Associate Director of Genomics Research at GeneDx-Sema4, a diagnostics company specializing in rare diseases. Her research focuses on improving genetics-based diagnostics through innovative bioinformatics and data science strategies. Dr. Torene received her PhD in genetics from Emory University and completed both her postdoctoral research and MMSc in biomedical informatics from the Harvard Medical School. She currently resides in the Washington, DC area. 

Dr. Lingyan Chen is a Senior Research Scientist at Human Genetics Centre of Excellence at Novo Nordisk Research Centre Oxford (NNRCO).  She obtained her PhD degree from King’s College London and did her PostDoc research in University of Cambridge where she obtained strong skills in Statistical Data Analysis, Population Genetics and Functional Genetics of complex diseases and published high impact research papers.  Her primary research interest is to investigate potential causal molecules (i.e. transcriptome, proteome, and metabolome) for CMDs using genomics and other-comics data applying statistical genetic methodologies, such as Mendelian randomization (MR), to inform future therapeutic targets. 

Dr. Whirl-Carrillo is Co-Principal Investigator and Director of the Pharmacogenomics Knowledge Base (PharmGKB), Co-Director of Informatics for the Clinical Pharmacogenetics Implementation Consortium (CPIC) and Co-Investigator of the Pharmacogenomics Clinical Annotation Tool (PharmCAT). Her research interests include the translation of human genome sequencing data to pharmacogenomic-based therapeutic recommendations. She has 20 years of experience in the field, working collaboratively on many projects and serving on multiple advisory boards. Michelle received her PhD in Biophysics from Stanford University and her SB in Biology from MIT.

Dr. Wagner is a Principal Investigator at The Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital. He analyzed the content of multiple public knowledgebases of the Variant Interpretation for Cancer Consortium (VICC) and demonstrated the need for data standards and supporting tools for genomic knowledge sharing and reuse. From this work, he took on the development and application of genomic knowledge standards under the auspices of the Global Alliance for Genomics and Health (GA4GH). In 2021, Dr. Wagner was recognized by the National Human Genome Research Institute (NHGRI) as an NHGRI Genomic Innovator for his work in this area. He currently holds leadership and/or invited positions in multiple national and international consortia, including GA4GH, the NIH Bridge2AI program, the HGVS Variant Nomenclature Committee, and the Variant Interpretation for Cancer Consortium (VICC).

Dr. Katrin Sangkuhl is a senior scientific curator at PharmGKB in the Department of Biomedical Data Science at Stanford University. She contributes to the development, maintenance, and application of the Pharmacogenomics Clinical Annotation Tool (PharmCAT) and is actively involved in the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Pharmacogene Variation (PharmVar) Consortium.

Dr. Binglan Li is a postdoctoral Scholar in Dr. Teri Klein's lab since late 2020. She is interested in genomic medicine and promoting the implementation of pharmacogenomics in clinical care through the development of tools, such as PharmCAT (Pharmacogenomics Clinical Annotation Tool). Her doctoral projects focused on understanding the genetic architecture of complex human traits and translational biomedical research using ‘omics data integrative methods and electronic health records. Binglan obtained a BS from Fudan University, China, and a PhD from the University of Pennsylvania.

Dr. Teri Klein is the Principal Investigator for the PharmGKB and Professor of Biomedical Data Science and Medicine at Stanford University. Dr. Klein is also the Co-Principal Investigator for CPIC (Clinical Pharmacogenetics Implementation Consortium) and PharmCAT. She was recruited from the University of California, San Francisco faculty and was the Director of the PharmGKB since it began in April 2000 until September 2019. Teri received her PhD in medical information sciences from the University of California, San Francisco and a BA in biology/chemistry from the University of California, Santa Cruz. Prior to becoming the director of the PharmGKB in 2000, Dr. Klein was an Associate Adjunct Professor at UCSF.

Dr. Marylyn Ritchie is a Professor of Genetics, Director of the Institute for Biomedical Informatics, Director of the Center for Translational Bioinformatics Institute for Biomedical Informatics, and Associate Director of the Center for Precision Medicine at the University of Pennsylvania School of Medicine. Dr. Ritchie is a statistical and computational geneticist with a focus on understanding the genetic architecture of complex human diseases. She has expertise in developing novel bioinformatics tools for complex analysis of big data in genetics, genomics, and clinical databases, particularly in the area of Pharmacogenomics. She is the co-PI of PharmCAT.

Mark Woon is the co-technical lead at PharmGKB and PharmCAT and has been with PharmGKB since 2001. He received his BSE in computer science from Princeton University. Prior to working on the PharmGKB project, Mark worked for Sun Microsystems and Netscape Communications.

Dr. Wesley Goar is a Senior Bioinformatics Scientist in the Wagner Lab at Nationwide Children’s Hospital in Columbus, Ohio. He obtained his undergraduate degree in Molecular Biology from Brigham Young University and his doctorate degree in Computational Genomics from the University of Iowa. During his graduate training he performed bioinformatics analyses of rare inherited eye diseases using genome, exome, panel, and RNA-sequencing technologies. After graduating, he managed the bioinformatics team for Immortagen Inc, performing cancer diagnostic reports for patients in China. He currently works on the standardization of variant data and the automation of variant assessment.

Kori Kuzma graduated from The Ohio State University with a bachelor’s degree in Computer Science and Engineering. At the Institute for Genomic Medicine, she develops and deploys web applications for the analysis and interpretation of genomic variants.

Katie Stahl does full-stack development for the Wagner lab at Nationwide Children’s Hospital, working with research staff to develop open-source bioinformatics applications for efficient data analysis and visualization. Katie received her degree in Computer Science with a minor in Mathematics from Capital University.

James Stevenson is a software developer in the Wagner Lab at Nationwide Children’s Hospital. He holds a bachelor’s degree in Political Science and Philosophy from the University of Puget Sound and is completing a master’s degree in Computer Science from the Georgia Institute of Technology. His research interests include applications of machine learning techniques in clinical medicine.

Karl Keat is a PhD candidate in Genomics and Computational Biology at the University of Pennsylvania, where he works in the labs of Dr. Marylyn RItchie and Dr. Dokyoon Kim. His research focuses on pharmacogenomics and mutli-omics data integration for improving drug response prediction.

Endrina Mujica is a PhD student at Marcel den Hoed’s research lab at Uppsala University, Sweden. She obtained her under graduate medical training from the University of Zulia in her home town of Maracaibo, Venezuela. During her medical training, she performed genetic screens to characterize allelic variants associated to metabolic alterations as part of “The Maracaibo city metabolic syndrome prevalence study”. She was then awarded an Erasmus scholarship to pursue the International Master in Innovative Medicine, an Erasmus Joint Master degree. This included courses at both Uppsala University and University of Groningen. Currently, she is doing her PhD studies at Uppsala University at Marcel den Hoed’s lab. The lab is focused on characterizing candidate genes for metabolic diseases using in vivo imaging and deep learning in zebrafish larvae. They have developed systematic and large-scale screens for the study of diabetes, obesity, cardiovascular, non-alcoholic fatty liver and kidney disease. These efforts aim to improve our understanding of disease etiology and help prioritize genes for further in-depth characterization. 

Dr. Scott Younger is the Director of Disease Gene Engineering within the Genomic Medicine Center at Children's Mercy Kansas City. He has extensive experience working with high-throughput sequencing-based screening technologies and is leading efforts to dissect the molecular mechanisms through which rare genetic variants identified in patients at Children's Mercy lead to disease. Dr. Younger came to Children's Mercy from the Broad Institute of MIT and Harvard where his group worked on the development of CRISPR-based screening methods. He completed his postdoctoral studies at Harvard University as an American Cancer Society Fellow. He holds a Ph.D. in cell and molecular biology from UT Southwestern Medical Center. He also received an M.S. in biotechnology from the University of Texas at San Antonio and a B.S.I. in bioinformatics from Baylor University.

Yi Ding is a fifth-year PhD student in Bioinformatics from UCLA advised by Dr. Bogdan Pasaniuc. She is interested in Bayesian Inference and the probabilistic modeling of complex genetic architecture. Currently, she is working with the UCLA-ATLAS Biobank to investigate the evaluation of individual-level polygenic score performance and the interpretation of polygenic scores across diverse genetic ancestries. Prior to UCLA, she obtained her Master’s degree in Biostatistics from Harvard T.H. Chan School of Public Health and her Bachelor’s degree in Biotechnology from Zhejiang University in China.  

Frederik Filip Vinggaard Staeger is a PhD student at the University of Copenhagen (UCPH), Section for Computational Biology. He did his bachelor’s degree in Molecular Biomedicine and master’s degree in Bioinformatics. He contributed to the discovery of a common loss-of-function variant in the Greenlandic population leading to sugar intolerance and associated with an improved metabolic profile. He was awarded the Bio-Elite PhD scholarship and has continued his work with the Greenlandic population under the supervision of Professor Albrechtsen. He was awarded the 2022 Predoc “Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research” for his finding of a novel common diabetes associated HNF1A variant that allows for precision prognostics and (eventually) treatment in the Greenlandic population contributing to a more equitable health care.

Marianne Lemée is a PhD candidate at the Institute of Genetics and Molecular and Cellular Biology (IGBMC) in Strasbourg, France. She obtained her bachelor’s degree of Science for Health from the University of Reims Champagne-Ardenne, and her Master’s degree specialized in Stem cells and Developmental Biology from the University of Strasbourg with distinction. In 2021, she joined the selective international PhD program of the IMCBio graduate school. In 2019, she joined the laboratory of Dr. Christelle Golzio at IGBMC as an undergraduate student willing to contribute to translational research. Her current research focuses on identifying and elucidating the function of candidate genes involved in neurodevelopmental diseases. Notably, she discovered that dosage imbalance of the chromatin remodeler CHD1L contributes to the 1q21.1 CNV-associated mirrored neurodevelopmental phenotypes.

Dr. Nathan Nakatsuka was born and raised in Honolulu, Hawaiʻi. He graduated from Kamehameha Schools Kapālama High School then attended Harvard College, earning an AB in Chemical and Physical Biology. He then obtained an MPhil in Genetics from University of Cambridge on a Gates Cambridge scholarship, working at the Wellcome Trust Sanger Institute with Inês Barroso. Nathan received his MD at Harvard Medical School in the Harvard-MIT Health, Sciences, and Technology MD track and his PhD from the Systems, Synthetic, and Quantitative Biology PhD program working in the laboratory of David Reich on population genetics of South Asia and the Americas. During his PhD the majority of his work focused on studying ancient DNA to uncover the ancient history of North, Central, and South America. He currently is a postdoctoral fellow at the New York Genome Center in the laboratory of Rahul Satija working on single cell analyses of neuropsychiatric traits.  

Dr. Yosuke Tanigawa is a Postdoctoral Associate at the Computational Biology Lab (PI: Prof. Manolis Kellis) at MIT Computer Science and Artificial Intelligence Lab. He obtained his BS in Bioinformatics and Systems Biology from the University of Tokyo and his PhD in Biomedical Informatics from Stanford University. He develops statistical and computational methods for disease heterogeneity dissection, polygenic risk modeling, and therapeutic target discovery. Personal website: https://yosuketanigawa.com/.  

Dr. Hai Nguyen is a CIRM (California Institute of Regenerative Medicine) postdoctoral fellow at the University of California, San Francisco. He obtained his undergraduate at Washington State University and his Doctor of Philosophy degree from the University of California, Berkeley. His research focus is on gene regulation, adipose tissue, and obesity.

Maria Costanzo, Ph.D., is the Creative Lead for the Knowledge Portal Network at the Broad Institute of MIT and Harvard. Costanzo earned her Ph.D. in molecular biology at Harvard University and holds a B.A. degree in microbiology from the University of Pennsylvania. Costanzo’s role on the Portal team is to spread awareness of the resources and to facilitate use of the Knowledge Portals, by writing clear documentation and participating in tool and interface development. Prior to joining the Broad Institute in 2015, Costanzo was a biocuration scientist with the Saccharomyces, Candida, and Aspergillus Genome Databases at Stanford University. She was also employed by Proteome, Inc. and Incyte Genomics, and performed basic research on the genetics and molecular biology of the model organism Saccharomyces cerevisiae (brewer’s/baker’s yeast) at Cornell University.

Noël Burtt is the director of operations and development of the Diabetes Research & Knowledge Portals in the Medical and Population Genetics Program and Metabolism Program at the Broad Institute of MIT and Harvard. Burtt received her B.S. from the University of New Hampshire in molecular biology and human genetics. Burtt’s work centers on the operational and organizational leadership of large-scale, international genetics consortia and public/private partnerships for human genetics studies, with a focus on type 2 diabetes and cardiometabolic diseases. Prior to her work at the Broad, Burtt joined the Whitehead Center for Genome Research in 1999 to help develop and scale technologies for genotyping and sequencing, tools that were used in some of the first genome-wide association studies (GWAS). Burtt has also managed two public-private partnerships with Novartis and Pfizer as part of the effort to use human genetics to develop better therapies for diabetes. She has contributed to more than 126 publications of genomic studies of diabetes, obesity, cancer, cardiovascular disease, and other disorders.

Jason Flannick is an assistant professor of pediatrics at Harvard Medical School and the Division of Genetics and Genomics at Boston Children’s Hospital, and an associate member of the Broad Institute of MIT and Harvard. Flannick received his B.A. in computer science, mathematics, and physics from Cornell University. Flannick later earned his M.S. and Ph.D. in computer science from Stanford University, writing his thesis on approaches to compare protein interaction networks across different species. He spent four years as a postdoctoral fellow in statistical and computational genetics in David Altshuler’s laboratory at Massachusetts General Hospital and the Broad Institute. The Flannick Lab develops computational approaches to use human genetic and broader genomic data to understand or better treat human diseases, with a current focus on diabetes.