A Beaverton family that has spent years searching for a replacement gene for their son’s rare genetic disorder says they are ...
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.
Dr. Marty Makary, the FDA’s commissioner, said in a statement that the “approval represents a significant milestone for ...
Yentli Soto Albrecht has a rare genetic form of ALS and is working on research at Penn that could one day prove life-saving.
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 ...
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.
Maria Baum was born with Williams syndrome, a genetic neurodevelopmental disorder strongly linked to cardiovascular disease ...
Non-invasive prenatal testing (NIPT) is a simple blood test during pregnancy that helps detect rare genetic conditions early, ...
Shane DiGiovanna was born with epidermolysis bullosa, or EB, a condition he said is described as "the worst disease you’ve ...
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