Genomics can solve disease mysteries

August 30, 2017 at 9:32 pm  | 
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Research focused from a clinical perspective generates breakthroughs for both medicine and genetics.

Earlier this year, the New York Times reported how a family afflicted by a rare hand deformity joined forces with Dr. Stefan Mundlos at the Max Planck Institute for Molecular Genetics to reveal new concepts in healthcare genomics. Newly defined structural abnormalities were found in afflicted family members, and biologists were able to deduce how the structural changes affected gene expression in the hand. This breakthrough never would have occurred if the researchers remained focused on individual genes. Similar structural abnormalities have been linked to a number of other diseases as well.

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