MEDICAL GENOME INITIATIVE - Key Persons

Job Titles:

• Member of the Steering Committee

Job Titles:

• Chief Medical Officer
• Member of the Steering Committee
• Chief Medical Officer and Faculty Investigator at the HudsonAlpha Institute for Biotechnology

David Bick is the Chief Medical Officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology. Dr. Bick also serves as the Medical Director of the Smith Family Clinic for Genomic Medicine, LLC located on the campus of HudsonAlpha Institute for Biotechnology and the Laboratory Director in the HudsonAlpha Clinical Services Laboratory, LLC. He came to HudsonAlpha from the Medical College of Wisconsin where he was Professor in the Department of Pediatrics and the Department of Obstetrics & Gynecology. At the Medical College of Wisconsin he was the Director of the Clinical Sequencing Laboratory, Director of the Advanced Genomics Laboratory at Children's Hospital of Wisconsin, Medical Director of the Genetics Clinic at Children's Hospital of Wisconsin, and Chief of the Division of Genetics in the Department of Pediatrics at Medical College of Wisconsin. Dr. Bick received his medical degree from George Washington University School of Medicine in 1981 and completed his residency in Pediatrics at Yale-New Haven Hospital in New Haven, CT. At the Yale University School of Medicine, Dr. Bick completed a fellowship in Human Genetics and Pediatrics in 1986, followed by a post-doctoral research fellowship in Human Genetics in 1987. Dr. Bick is board certified in pediatrics, clinical genetics, and clinical molecular genetics. He is a leader in the field of genomic medicine and has published numerous peer-reviewed articles, chapters, and reviews. Dr. Bick's laboratories at the Medical College of Wisconsin and Children's Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test. He also developed the first Genomic Medicine Clinic in the United States.

Job Titles:

• Member of the Steering Committee
• Expert
• Senior Medical Director, Rady Children 's Institute for Genomic Medicine, San Diego, CA, USA

Dr. David Dimmock is an internationally renowned expert in the field of clinical genomic medicine and is passionate about improving the standard of care for children and adults with inborn errors of metabolism. Through 20 years of clinical experience, his medical practice has become focused on the identification of rare disorders through newborn screening and advanced genomic techniques. He is especially recognized for bringing innovative diagnostic testing strategies into the clinic. After graduating from St George's (University of London), Dr. Dimmock undertook training in pediatrics in the UK. With a passion for adult and pediatric metabolic diseases, he began a US pediatric residency program in Phoenix, Arizona. He then undertook Genetics and Clinical Metabolic Genetics fellowship training at Baylor College of Medicine (BCM) in Houston, Texas. After a faculty appointment at BCM he moved on to the Medical College of Wisconsin becoming an Associate Professor of Pediatrics and the Chair of the State of Wisconsin newborn screening metabolic disease subcommittee. In June 2016, he started his current post as the medical director of the Rady Children's Institute for Genomic Medicine. Dr. Dimmock has been an invited advisor to the FDA, CDC and the Institute of Medicine. In addition to substantive NIH grants, he has been the Principal investigator on more than 20 clinical trials of novel therapeutics in rare metabolic diseases.

Job Titles:

• Member of the Steering Committee

Dr. Shashikant Kulkarni is an ABMGG Board-certified medical geneticist who serves as a tenured Professor and Vice Chairman for Research in the department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas. He trained at Harvard Medical School, Imperial College at London, UK and at AIIMS, India. In his role as CSO and Sr. VP at Baylor Genetics, Dr. Kulkarni is responsible for all medical and scientific affairs activities, developing strategy, overseeing all aspects of laboratory and ancillary operation and providing executive leadership across multiple functions. He is responsible for building a dedicated test development team that will help translate research findings to novel clinical tests. Previously, Dr. Kulkarni was at Washington University School of Medicine in St. Louis serving as the Chief Medical director of Clinical Genomics and Molecular Pathology since 2006. He was also a Professor in the departments of Pathology & Immunology, Pediatrics and Genetics. Dr. Kulkarni served on the Scientific Advisory Board of NIH Institute -National Institute of General Medical Science's Coriell Institute, Bina Technologies, Swift Biosciences, Roche Diagnostics, Cancer Genomics Program at Princess Margaret Hospital-Toronto, Horizon Discovery and Transgenomics. Dr. Kulkarni is considered an expert and key opinion leader in the field of Clinical Genomics and Next Generation Sequencing technology and he has given numerous invited presentations both nationally and internationally. He is on the editorial board of several peer-reviewed journals and is the editor-in-chief of Cancer Genetics journal and has co-edited a book "Clinical Genomics-A guide to clinical next-generation sequencing". Dr. Kulkarni is the program director of the ABMGG accredited Clinical Genomics training program both at Washington University School of Medicine and now at Baylor College of Medicine.

Job Titles:

• Member of the Steering Committee
• Associate Dean, School of Medicine

Associate Dean, School of Medicine, Professor of Medicine (Cardiovascular), of Genetics, of Biomedical Data Science and, by courtesy, of Pathology at The Stanford University Medical Center Born in Scotland, Dr. Ashley graduated with 1st class Honors in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular physiology 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 Dr Ashley directs the Clinical Genome Program and the Center for Inherited Cardiovascular Disease. Dr Ashley wasthe first co-chair of the steering committee of the NIH 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 $75 million One Brave Idea competition and co-founder of two genome scale genetic diagnostics companies: Personalis Inc ($PSNL) and Deepcell 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 Associate Dean in 2019. Father to three young Americans, in his ‘spare' time, he tries to understand American football, plays the saxophone, and conducts research on the health benefits of single malt Scotch whisky.

Job Titles:

• Member of the Steering Committee

Job Titles:

• Member of the Steering Committee

Job Titles:

• Member of the Steering Committee
• Clinical Data Scientist, HudsonAlpha Clinical Services Lab, Huntsville, AL, USA

Dr. Matt Holt completed his undergraduate and Master's programs studying computer science at Auburn University. He then completed his Doctoral program in bioinformatics at the University of North Carolina at Chapel Hill in 2016. He continued his studies into the study of rare disease with a Postdoctoral program at HudsonAlpha Institute for Biotechnology. While there, he participated in algorithms development and rare disease case analysis for the Undiagnosed Diseases Network. In 2019, he joined HudsonAlpha's Clinical Services Lab as a Data Scientist. His current research focuses on applied machine learning and algorithm development in the context of short- and long-read clinical genomic sequencing.

Job Titles:

• Member of the Steering Committee
• Physician
• Founder of Genetics & Genomics Services Consultant, Belmont Genetics / Professor ( Adjunct ), Department of Molecular and Human Genetics, and Pediatrics, Baylor College of Medicine, Houston, Texas

Dr. Belmont is a physician-scientist with extensive experience in medical practice, academic research, and the biotechnology industry. Dr. Belmont was formerly Senior Principal Medical Scientist on the Medical Genomics Research team at Illumina, Inc. where he consulted on diverse programs including studies of the clinical utility of genome analysis, and standards for clinical genome sequencing. Importantly, Dr. Belmont was (is?) a founding member of the Medical Genome Initiative and has graciously offered to consult and offer expert guidance when requested. Dr. Belmont continues to collaborate in research on cardiovascular disorders and infectious diseases. He has published numerous papers on the genetic causes of congenital heart defects and other cardiovascular diseases. In addition to his research, Dr. Belmont is a Pediatrician and Medical Geneticist. He was a co-founder of the Cardiovascular Genetics Clinic at Texas Children's Hospital (1997-2015). Dr. Belmont is also an advocate for children's health and biomedical research. A current focus of advocacy is Project Baby Dillo, an effort to introduce whole genome sequencing into Texas NICUs. Dr. Belmont grew up in San Antonio, Texas and received a B.A. degree from the University of Texas, Austin in 1974. He attended Baylor College of Medicine where he graduated with M.D. and PhD. Degrees in 1981. After Pediatrics training at Children's Hospital National Medical Center, Washington, D.C. he returned to Baylor for post-doctoral research in genetics. He is a member of the American Society of Human Genetics, American College of Medical Genetics and Genomics, and an elected member of the American Society for Clinical Investigation and Association of American Physicians.

Job Titles:

• Member of the Steering Committee

Melissa Kelly completed her PhD in Cell and Developmental Biology at the Medical College of Wisconsin. She continued her learning experience as a post-doctoral fellow, working with Drs. Howard Jacob and Elizabeth Worthey at HudsonAlpha Institute for Biotechnology. Later, she became the Lab Supervisor for Software Development and Informatics, under the direction of Dr. Worthey. During her time at HudsonAlpha, Melissa has been involved in a variety of projects, including diagnosis of rare disease through the Undiagnosed Diseases Network, identification of genetic modifiers in cystic fibrosis, and development of software for genomic analysis and interpretation.

Job Titles:

• Member of the Steering Committee
• Vice President of Scientific Research

Dr. Taft leads a team within Medical Genomic Research that includes the Illumina Clinical Services Laboratory. His focus is on the development and deployment of diagnostic whole-genome sequencing worldwide for children with rare and undiagnosed genetic disease. Previously, he was a group leader and senior research fellow at the University of Queensland and is an adjunct associate professor at the George Washington University School of Medicine and Health Sciences. Dr. Taft holds various positions within industry organizations. He is a founding member of the Global Leukodystrophy Initiative, scientific advisor to the Mission Massimo Foundation, and co-chair of the Medical and Scientific advisory board of Global Genes. Dr. Taft obtained his Bachelor of Science degree in Biochemistry and Molecular Biology from the University of California, Davis, on a Regent's Scholarship, and his Ph.D. in Genomics and Computational Biology from the University of Queensland on a US National Science Graduate Foundation Research Fellowship.

Job Titles:

• Member of the Steering Committee

Job Titles:

• Member of the Steering Committee

Job Titles:

• Chairman of the Steering Committee

Job Titles:

• Member of the Steering Committee
• Mayo Clinic Researcher

Wei Shen is a Mayo Clinic researcher whose areas of focus include hereditary cancer predisposition syndromes and rare diseases. He co-leads the hereditary oncology subdiscipline in the Department of Laboratory Medicine and Pathology. As the associate director of Mayo Clinic's Clinical Genome Sequencing Laboratory, Dr. Shen is also interested in implementing advanced sequencing technologies and bioinformatics pipelines to improve patient care. Dr. Shen completed his PhD in genetics at the University of Wisconsin, Madison and two fellowships at the University of Utah School of Medicine in both clinical cytogenetics and molecular genetics.