Scientists in Japan have used gene-editing technology to remove the extra chromosome responsible for Down syndrome, at least ...

Of the 258 participants, 195 were cognitively asymptomatic, 34 had mild cognitive impairment, 23 had dementia, and six had an ...

How does the CRISPR Down Syndrome breakthrough work to remove the extra chromosome 21? We are closer than ever to a world ...

Dystonia involves involuntary muscle contractions, but you're not out of options. Discover how botulinum toxin, DBS, and ...

Madison Sisson tells PEOPLE why she began sharing her journey raising two sons with leukocyte adhesion deficiency on TikTok.

Patients with rare diseases are increasingly working to find and fund their own cures. But should they have to?

PANDAS syndrome is the result of an autoimmune response to a strep infection. Learn about causes, symptoms, treatment, and more at WebMD.

Colin Farrell opened up to PEOPLE about his son James, who was diagnosed with Angelman syndrome. Here’s what to know about the rare neurogenetic disorder that affects 1 in 15,000 people.

Phocomelia is a key feature of a condition called pseudo-thalidomide syndrome, or Roberts SC-phocomelia syndrome. Phocomelia can't be reversed, but there are ways to help manage the condition.