Tiffany Fransen's lifelong clumsiness turned out to be a rare neurodegenerative disease. Friedreich’s ataxia leads to muscle ...

Spinal muscular atrophy is a debilitating genetic condition that’s usually fatal by a few years of age. But an intriguing case study might demonstrate a simple new treatment, with a child showing no ...

A specific gene may play a key role in new treatments that prevent muscle in the body from breaking down in serious muscle diseases, muscular dystrophies. A specific gene may play a key role in new ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

Chennai: The Institute of Child Health (ICH) has seen a sharp rise in cases of genetic disorders since its launch in 2022, ...

Dyne Therapeutics started the new year with proof-of-concept clinical data for experimental genetic medicines addressing two rare muscle diseases—one of which has no FDA-approved treatments. Now the ...

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 ...

Her 14-year-old twin sons, Grady and Jace, both have PKAN, a rare genetic disorder that affects walking, eating, and speaking ...

Researchers from the School of Public Health, LKS Faculty of Medicine of the University of Hong Kong (HKUMed) conducted a large-scale epidemiological study to explore the potential health benefits of ...