Digital Biology & Genetics

Gene therapy helps patients avoid blood transfusion

Memories of classical ballet performances dance in Wanda Sihanath’s head when she thinks about her childhood in Elgin, Illinois. She remembers balancing at the barre to Beethoven and pirouetting to Vivaldi.Even though it rarely affected her dance lessons, she also remembers being sick — very sick.Sihanath, now 22, was diagnosed as a young child with

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How EHRs are helping Vanderbilt researchers identify undiagnosed genetic diseases

Research team finds patterns of symptoms that might be caused by an underlying genetic variant. Researchers at Vanderbilt University Medical Center are looking into diagnoses, such as heart failure, stroke, infertility and kidney failure to see whether they stem from undiagnosed genetic diseases.The researchers are probing genetic data in EHRs to identify the diseases in

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Omics, sweet omics curing the incurable, one disease at a time

They are many rare genetic diseases that strike perhaps only one in a million people. Often incurable, they can be profoundly debilitating and frequently life-threatening. Though each particular disease is rare, they number in the thousands which means that together they affect about 30 million Europeans or around 7% of us. Treating these diseases is

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