SCIENTIFIC ADVISORY BOARD

Karen Ho, PhD

Karen S. Ho, PhD began working on genotype-phenotype studies of Wolf-Hirschhorn syndrome with Drs. John Carey, Agatino Battaglia, and Amy Calhoun in 2012. She has published papers on a candidate seizure gene in the 4p region as well as on potential treatments for Wolf-Hirschhorn related seizures. While she was the principal translational research scientist at the Salt Lake City-based start-up, Lineagen, she developed novel methodologies to better assess the contribution of single genes within copy number variants to pediatric neurodevelopmental disorders. She is President and Founder of a nonprofit organization dedicated to helping move rare genetic disorders along the translational medicine pipeline. She is also Head of Translation Medicine at Clene Nanomedicine, a Salt Lake City-based pharmaceutical company developing novel therapeutics for neurological disorders. 

 

In addition to serving as Adjunct professor of pediatrics at the University of Utah, she was Chief Scientific Officer for NGLY1.org, a nonprofit devoted to raising awareness, funding research, and providing support for those affected by NGLY1 deficiency disorder. She serves on the scientific advisory boards of a number of rare disease patient advocacy groups, Liv4theCure chief among them. Prior to working at Lineagen, she completed a postdoc in neuroscience at the University of Pennsylvania. She has a PhD in developmental biology from Stanford and a masters degree in genetics from Cambridge University, England. She, her husband, and their two very active boys, ages 12 and 10, enjoy hiking, biking, and traveling together.

Anthony Wynshaw-Boris, MD, PhD

Professor and Chairman, Department of Genetics School of Medicine, Case Western Reserve University

Tony Wynshaw-Boris received his MD/PhD degrees from Case Western Reserve University School of Medicine. His PhD was under the direction of Richard Hanson, PhD, where he elucidated the sequences within the PEPCK promoter required for activation by cAMP and glucocorticoids. He did his residency in Pediatrics at Rainbow Babies and Children's Hospital, followed by a medical genetics fellowship at Boston Children's Hospital. While in Boston, he did a postdoctoral fellowship at Harvard Medical School under the direction of Philip Leder, MD, where he studied mouse models of developmental disorders.

 

In 1994, Dr. Wynshaw-Boris set up an independent laboratory at the National Human Genome Research Institute of the NIH, where he initiated a program using mouse models to study human genetic diseases, with a focus on neurogenetic diseases. In 1999, he moved to UCSD School of Medicine, where he became Professor of Pediatrics and Medicine, as well as Chief of the Division of Medical Genetics in the Department of Pediatrics. In 2007, he moved to UCSF School of Medicine, where he was the Charles J. Epstein Professor of Human Genetics and Pediatrics, and the Chief of the Division of Medical Genetics in the Department of Pediatrics. In June 2013, he returned to Cleveland to become the Chair of the Department of Genetics and Genome Sciences.  In 2018, Wynshaw Boris was elected as president of the American Society of Human Genetics, the primary professional membership organization for human genetics worldwide.  To read more about his research go here.

Daryl Armstrong Scott, MD, PhD

Associate Professor, Molecular and Human Genetics, Baylor College of Medicine

Daryl Armstrong Scott received his BS from Brigham Young University and his PhD and MD from the University of Iowa.  He completed two residencies, one at the University of Utah in Pediatrics and the other at Baylor College of Medicine in Clinical Genetics.  He is certified by the American Board of Pediatrics and the American Board of Medical Genetics.  Dr. Scott’s professional interests include identifying and characterizing genes responsible for common birth defects.  Dr. Scott’s laboratory at Baylor is dedicated to identifying and characterizing genes that cause common, life-threatening birth defects and determining the molecular mechanisms by which they impact human health.  For more information about Dr. Scott including publications, please go here.

Rob Hopkin, MD

 

Robert Hopkin, M.D. is an Associate Professor of Clinical Pediatrics at Cincinnati Children’s Hospital Medical Center.  Dr. Hopkin graduated from the University of Nevada Medical School in 1990.  He completed his residency and chief residency in Pediatrics at the Phoenix Children’s Hospital, Maricopa Medical Center Pediatrics Residency Program in 1994.  He completed his training in Medical Genetics at Cincinnati Children’s Hospital Medical Center in 1997. 

 

The majority of Dr. Hopkin’s time is spent caring for pediatric patients with genetic disorders.  He participates in clinics from Fetal Care to Adult Genetics.  As the Director of the Medical Genetics Residency and Fellowship Program at Cincinnati Children’s Hospital, he is also actively involved in the education of health care providers regarding the application of genetics for patient care.  Dr. Hopkin has participated in a number of clinical trials and is a former member of the American College of Medical Genetics Committee on Therapeutics.  He has participated in, or is currently participating in, natural history studies on hypophosphatasia, Fabry disease, Pompe disease, velocardiofacial syndrome, 1p36 deletion syndrome, Neurofibromatosis type I, and other genetic conditions.   The unifying principle in his research interests is application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.

Natasha Shur, MD

 

Dr. Natasha Shur is the head of the Division of Genetics in the Department of Pediatrics at Albany Medical Center. She is a member of the American Board of Genetics and American Board of Pediatrics.  She has published, presented, and reviewed dozens of papers of topics in pediatric genetics.  Board certified in Pediatrics and Genetics, Dr. Shur received her fellowship training and medical degree at Albert Einstein College of Medicine of Yeshiva University in the Bronx.  She served her residency at the Children’s Hospital at Montefiore Medical Center and an internship at Tufts – New England Medical Center.  She has received multiple awards including the Resident Teaching Award, Bright Light Award, Dean’s Teaching Award, Starlight Children’s Award for Patient Care, and Top Doctors Regional Award.  She was also Assistant Professor of Pediatrics at Albany Medical College from 2007-2013.  Dr. Shur specializes in dysmorphology and has done extensive work in the areas of autism, seizures, and neurological disorders.