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A membrane transport protein called SLC13A5 has previously been linked to a severe form of epileptic encephalopathy.

Lung cancer can be hereditary, with mutations in the EGFR and KRAS genes potentially playing a role. Smoking, however, is by far the biggest risk factor.

The Emerton family didn't know the odds were always stacked against them, all because of a rare gene. Already, that gene has sent both Clay Emerton and his son, Andrew, into cardiac arrest ...

A rare gene mutation that delays Alzheimer's disease does so by damping inflammatory signaling in brain-resident immune cells, according to a preclinical study led by investigators at Weill ...

Scientists at Fox Chase Cancer Center have identified a mutation in a common oncogene—a gene that can cause cancer—that may play an important role in colon cancer. Researchers also showed how ...