Thus far, 7,600 genetic diseases have been identified and more are being discovered every year. Read more at straitstimes.com ...

Yentli Soto Albrecht, who is a genetic carrier of ALS, is working on research at Penn that could one day prove life-saving.

"CNBC Cures: Defying Rare Disease" will air on Thursday, March 19 at 7PM ET.

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

A mother of two experienced falls, vision problems and memory loss due to a rare condition, MTHFR-related autosomal recessive ...

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

AstraZeneca, a global, science-led biopharmaceutical company, has made available its treatment, Soliris®, in Malaysia as part ...

Together, NORD and OpenEvidence aim to strengthen the connection between clinical knowledge and patient education, helping ...

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

Maria Baum was born with Williams syndrome, a genetic neurodevelopmental disorder strongly linked to cardiovascular disease ...

The Food and Drug Administration (FDA) on Tuesday granted expanded approval to Wellcovorin for the ultra-rare disease ...

Patients with rare diseases take part in a fashion show in Yantai, Shandong province on Saturday.[Photo provided to ...