Genomics fails to diagnose up to half of patients who are tested. Using a new neutrophil proteome database, researchers made genetic diagnoses for children with severe congenital neutropenia whom typical sequencing had failed.
When sequencing fails to pinpoint a rare disease
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Now Dr. Jack Straw is in charge of the website, and organizes it so that medical care is available to everyone. In addition, he is an active member of the medical community, regularly attending international conferences and sharing his experience and knowledge.
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