IDefine and UT Southwestern Announce Research Collaboration to Advance Gene Therapy for Rare Disease Kleefstra Syndrome

The Kleefstra Syndrome Foundation, a leading patient advocacy organization, today announced a collaboration with UT Southwestern Medical Center to advance development of a potential gene therapy to ...

New study at UNT Health will research Alzheimer's in people with Down syndrome

Alzheimer's disease is far more common in people with Down syndrome than in the neurotypical population.
The Lancet

Metabolic syndrome myopathy: defining an emerging clinical entity in patients with MASLD

Metabolic dysfunction-associated steatotic liver disease (MASLD) commonly coexists with poor muscle health, which encompasses three interconnected domains: muscle mass, muscle function, and muscle ...

Researchers Share Potential Breakthrough in Céline Dion's Disorder, Stiff-Person Syndrome

“With Celine Dion, thank you, thank you, thank you for helping expedite that awareness by 50 years,” said the founder of the ...
Neurology Advisor

Parkinson Disease Risk Evaluated in Gaucher Disease Type 1

Patients with Gaucher disease type 1 face high age-specific prevalence of Parkinson disease and possible parkinsonian syndrome by age 80 years.