Sidra Medicine, a member of Qatar Foundation, has highlighted the real-world impact of precision medicine on a six-year-old patient with a rare genetic condition. Marking Rare Disease Day observed ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

The addition of PacBio to the iHope network will further expand diagnostic access worldwide DAMASCUS, MD, UNITED ...

Exclusive: One in four wait at least three years for diagnosis and many face treatment ‘access lottery’, according to report ...

Federal health officials on Monday laid out a proposal to spur development of customized treatments for patients with hard-to-treat diseases, including for rare genetic conditions that the ...

Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

The Food and Drug Administration is making it possible for pharmaceutical companies to produce bespoke medicines for individual patients, an effort to revolutionize the standard of care for rare ...

Psychiatric disorders can share common genetic influences, which means parts of DNA can be at the root of more than one mental condition, new research has found. The study, led by researchers at Texas ...

Genetics aren't necessarily destiny for those with mutations thought to always cause inherited blindness, a new study says. Fewer than 30% of people with these genetic variants wind up blind, even ...