Toddler Leni was diagnosed with Sanfilippo disease, a rare genetic condition often described as childhood dementia ...

Life-saving treatments for children with orphan illnesses often move slowly, if at all, through the federal approval process.

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have defined a new genetic disease marked by premature aging and deficits in brain function.

A baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him. The baby, KJ Muldoon of Clifton Heights, ...

Avlayah is the first Hunter syndrome therapy approved to address the condition’s neurologic complications, according to Tracy ...

Lo, Ph.D., Professor at the MIT Sloan School of Management and a member of n-Lorem’s board of directors, have published a commentary in Nature Biotechnology that proposes more economically feasible ...

The early funding will help transition its research into scalable therapies targeting lysosomal storage disorders.

Living with a rare disease often means years of uncertainty, misdiagnosis, and limited treatment options. But advances in ...

Jack Arneson, born Jan. 26, has both Ebstein's anomaly, a congenital heart defect, and Sotos syndrome, a rare genetic ...

Focused on therapies for rare skin diseases, this clinical-stage biotech saw a notable director purchase coincide with a ...

A couple with deep ties to the Chicago area is donating $11 million to Lurie Children’s Hospital in hopes of speeding research, treatment and diagnosis for children with rare and genetic disorders.