Natera NTRA announced the commercial launch of Zenith genomics, a next-generation whole genome sequencing assay designed to ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome.

Everyone’s favorite little blue pill may offer more than just a boost in the bedroom. New research suggests the erectile ...

More than 12,000 years ago, two closely-related women – a mother and her daughter, perhaps – were buried in an eternal ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

CRISPR gene editing has now been used to treat a genetic defect in a child, giving hope to parents of children with rare inherited diseases. While hopes are high, clear communication about the ...

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

Lysosomal Storage Disorders are genetic conditions caused by enzyme deficiencies that lead to harmful substance buildup in cells, resulting in progressive organ damage. Common disorders in India ...

A Beaverton family that has spent years searching for a replacement gene for their son’s rare genetic disorder says they are ...

A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020. A ...

Four years later, the Phams are searching for a cure after their son was diagnosed with a rare neurological disorder, hoping to raise funds for clinical trials.