For rare disease patients and their families, genome and exome sequencing may identify mutations that may be drivers of a condition, but nothing more. As families search for a name to put to a disease and look for treatments, finding others with the same condition and researchers working to understand and treat it becomes a critical part of the search for answers. Now researchers at the University of Washington have created MyGene2, a web portal for people with rare genetic mutations to connect with others with the same condition and researchers interested in their particular mutation. We spoke to Michael Bamshad, professor and chief of the Division of Genetic Medicine in the Department of Pediatrics at the University of Washington & Seattle Children’s Hospital and Jessica Chong one of the leads on the MyGene2 project at the Center for Mendelian Genomics at the University of Washington, about the portal, how it works, and what they are hoping to accomplish.

 

RARECast is a weekly series by Daniel S. Levine. Levine is an award-winning business journalist who has reported on the life sciences, economic development, and business policy issues throughout his 25-year career. He founded Levine Media Group in 2013, which produces The Bio Report and RARECast podcasts. Read his full bio here. 

1 thought on “Helping Patients with the Same Undiagnosed Genetic Condition Find Each Other”

  1. Christy Rotert says:

    I was born with Noacks syndrome now classified under Pfeiffer Syndrome. I’m trying to find out more on this syndrome because as I get older the symptoms are getting worse and no doctors can give me any information. If anyone has any information or has the syndrome and would like to talk please e-mail me @ christyrotert@aol.com. Thank you & God Bless!

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