If you haven’t heard of the genetic disorder Heterotaxy, a new children’s book released by a Connecticut teacher and her ...

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

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

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

The move comes months after the Trump administration touted leucovorin as a potential therapy for a broader group of patients with autism symptoms.

In September, Trump and the FDA commissioner announced the drug was under review to benefit patients with autism. The FDA didn't find evidence of that.

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

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 ...

Adrenal insufficiency encompasses a spectrum of disorders in which the adrenal glands fail to produce adequate amounts of steroid hormones, notably glucocorticoids and, in some cases, ...

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 journal Cell by researchers at ...