Human Molecular Genetics

Genetics

Ashkenazi Jewish founder mutation identified for Leigh Syndrome

Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy. After five-year-old Chuckie died suddenly in 1981, doctors ...

Oncology & Cancer

Novel gene mutation found in lymphatic disorder

Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy ...

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