Rare Diseases

Online resource enables open data sharing for rare Mendelian diseases

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IMAGE: This is Jessica Chong, PhD, University of Washington view more

BETHESDA, MD – MyGene2, a new open data resource, helps patients with rare genetic conditions, clinicians, and researchers share information, connect with one another, and enable faster gene discovery, according to results presented at the American Society of Human Genetics (ASHG) 2017 Annual Meeting in Orlando, Fla.

“With MyGene2, we hope to help patients and their families engage with researchers and clinicians and vice versa, as well as speed up awareness of genes associated with rare Mendelian diseases,” said Jessica Chong, PhD, Analysis Group Lead at the federally-funded University of Washington Center for Mendelian Genomics (UW-CMG), who presented the work.

Dr. Chong and Michael Bamshad, MD, Chief of the UW Division of Genetic Medicine, were working in rare disease gene discovery when they observed that a lack of open data sharing was slowing down scientific progress. “We found that good research findings were just not getting out there,” she said. “Researchers may know of a gene’s discovery years before it gets published, during which time patients and their families are undiagnosed and unaware.”

At the same time, they noted that rare disease patients and families who were using existing social networks to make connections were running up against the limitations of those platforms, such as balancing worldwide reach with patient…