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New service to help untangle the mysteries of DNA

An athlete in both high school and college, Julie Prillinger had no idea anything was wrong with her until she went for a physical for a new job. The doctor detected something unusual in the rhythm of her heartbeat and referred her to a cardiologist.

Tests showed that Prillinger had an inherited condition of the heart called hypertrophic cardiomyopathy. It is caused by mutations in genes involved in the heart’s muscle cells. Those mutations typically disorganize those cells, altering the heart’s walls and disrupting the flow and force of blood out of the heart. It is the most common cause of sudden death in young people and one of the most common inherited cardiovascular disorders

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Stories of Genome Sequencing in Medical Diagnoses

Stories and articles of the use of genome sequencing in medical diagnoses of rare diseases.  

16 posts

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Tricia Lu