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

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

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 Charité—Universitätsmedizin Berlin, together with teams from ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life. Tomorrow, we will intervene before birth. For the first ...

Genetic diseases are notoriously challenging to treat, especially when each condition requires a tailored approach. With over 10,000 known genetic disorders, developing individual therapies for each one has been an immense hurdle,

NEW HAVEN, Conn. (WTNH) — If you haven’t heard of the genetic disorder Heterotaxy, a new children’s book released by a Connecticut teacher and her cousin is spreading awareness. Connecticut first-grade teacher Haleigh Bresnan joined her cousin and illustrator,

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 dominant disease genes have been detected across multiple studies.

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, mineralocorticoids. Congenital adrenal disorders, including conditions ...

Right now, approximately 20 billion red blood cells are busy traveling through your blood vessels. They are delivering oxygen to all the different tissues in your body and removing carbon dioxide to be breathed out of your lungs. Red blood cells are disks ...

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 allows for the early identification of hereditary ...