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.

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

Non-invasive prenatal testing (NIPT) is a simple blood test during pregnancy that helps detect rare genetic conditions early, ...

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

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 ...

Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal ...

Horses are just as much a part of New Mexico’s story as green chile and balloons. One local startup is hoping their research ...

Researchers at Cardiff University have uncovered how a particularly severe form of DNA damage arises—shedding new light on mutation processes that contribute to cancer and inherited genetic conditions ...

Weizmann Institute study finds genetics may account for about 50 percent of human lifespan, more than double previous estimates.

“Yes, doctor. My dad’s first fall was on his 65th birthday. He stood in the driveway and suddenly dropped backwards on his back. After he fell two more times, we came to the clinic.” The symptoms the ...

Although mental disorders have multifactorial causes, genetics can explain some of them, yet this field remains largely unexplored in terms of guiding diagnoses and treatments. In the largest study of ...

Sildenafil – an active ingredient also marketed under the name of Viagra – improves symptoms in patients with Leigh syndrome. This has now been reported in the Cell* journal by researchers at Charité ...