FA is a progressive neuromuscular disease that causes loss of coordination and mobility. My parents got my test results the ...

"The unique mechanism we've identified here suggests that there are more long non-coding RNAs underlying rare genetic ...

New research demonstrates the potential of precise genome editing technologies, called adenine base editors, to correct disease-causing mutations in stem cells from patients with X-linked chronic ...

At #STATSummit, three parents discussed the challenges they've faced trying to find treatments for their children with rare ...

Nager syndrome, or NS, is a rare genetic disease that affects the development of the face and limbs, usually causing anomalies in the bone structures of the jaws, cheeks, and hands. With a ...

Savara Inc. (Nasdaq: SVRA) (the Company), a clinical stage biopharmaceutical company focused on rare respiratory diseases, ...

A TEEN has spent the last 10 years in a wheelchair after he was diagnosed with a rare genetic muscular disease known as ...

After "coming out of the fog" post-diagnosis, Whitrod immersed herself in research, making connections with other families whose children were also living with rare genetic diseases. One of those ...

Researchers found that ultra-rare genetic variants play a significant role in the heritability of coronary artery disease ...

Leber's congenital amaurosis is a rare genetic disease caused by mutations in genes. Frida Bollani Magoni, daughter of ...

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with ...

Nager syndrome (NS) is an extremely rare disease that causes developmental problems and anomalies in facial bone structures and limbs. While the causative gene is known, its underlying mechanisms ...