September 6, 2018
Anthony Wynshaw-Boris, MD, PhD, the James H. Jewell MD ’34 Professor of Genetics and chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine, University Hospitals Cleveland Medical Center and Rainbow Babies & Children’s Hospital, has been elected as president of the American Society of Human Genetics, the primary professional membership organization for human genetics worldwide.
He will serve as president-elect in 2019, president in 2020, and past president in 2021.
Wynshaw-Boris is an internationally recognized human geneticist who has made major contributions to understanding the pathophysiology of human childhood neurogenetic diseases and cancer. His research focuses on understanding genetic and biochemical pathways important for the development and function of the mammalian central nervous and induces pluripotent stem cells of human and mammalian diseases to define pathways disrupted in these diseases.
Among many professional accomplishments, the Wynshaw-Boris laboratory defined the mechanism of action of genes responsible for ataxia-telangiectasiam, a rare inherited neurodegenerative disorder causing severe disability, and lissencephaly, a rare, gene-linked brain malformation characterized by the absence of normal folds in the cerebral cortex and an abnormally small head. Dr. Wynshaw-Boris and his team determined components of the major pathways through which these genes act, and designed novel potential therapies for human patients.
The Wynshaw-Boris laboratory was the first to produce mice with mutations in each of the three Dishevelled genes, which play important roles in the embryo and the adult, ranging from cellular differentiation to social behavior. Mice with these mutations display defects in mammalian social behavior and are models for human neuropsychiatric diseases such as autism. Dr. Wynshaw-Boris used these mice to uncover a novel genetic chain reaction regulating brain development in the embryo which can lead to autism.
He also discovered that during reprogramming into induced pluripotent stem cells, ring chromosomes (structurally abnormal chromosomes which fuse into rings and are responsible for a range of serious disorders), are lost and replaced by duplication of a normal chromosome, providing a potential “chromosome therapy” for chromosomal defects.
Before coming to Case Western Reserve in 2013 he served on the faculties of the National Human Genome Research Institute, the University of California San Diego School of Medicine, and the University of California San Francisco School of Medicine.
Wynshaw-Boris earned his medical degree and doctorate in biochemistry from Case Western Reserve. He completed a residency at Rainbow Babies & Children's Hospital and a fellowship at Children's Hospital of Boston and Harvard University. He also completed a Howard Hughes Medical Institute postdoctoral fellowship, where he studied mouse models of birth defects and developmental disorders.
He has received numerous honors and awards including the NIH Director’s Award and EJLB Foundation Research Scholars Program Fellowship; election to the American Society for Clinical Investigation, the Association of American Physicians, and the American Pediatric Society; and as a fellow of the American Association for the Advancement of Science. He has served as executive editor of Human Molecular Genetics since 2005 and editor of three editions of Inborn Errors of Development (Oxford University Press).
The American Society of Human Genetics, founded in 1948, has nearly 8,000 members including researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, and nurses with an interest in the field of human genetics. Among its activities, it publishes the American Journal of Human Genetics, advance genetic research by advocating for research support, enhances genetics education by preparing future professionals and informing the public, promotes genetic services, and support responsible social and scientific policies.
For more information about Case Western Reserve University School of Medicine, please visit: case.edu/medicine.
For more information about University Hospitals Rainbow Babies & Children’s Hospital, please visit rainbow.org.
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