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

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient populations.

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

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

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 ...

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

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

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet ...

Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome.

This RNA therapeutics innovator for rare diseases reported a notable insider sale amid a year of dramatic share price gains.