Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...

A decades-old drug once used to treat sleeping sickness is now showing surprising promise against an ultra-rare and ...

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is ...

In May 2025, the world celebrated the success of KJ, an infant who was treated with the world’s first personalized CRISPR gene editing therapy. KJ was born with severe carbamoyl phosphate synthetase 1 ...

From decoding the tiniest RNA malfunctions to discovering that two genetic defects can sometimes restore health, scientists ...

All newborns in Manitoba will be screened for a rare genetic disorder affecting the immune system that occurs at much higher rates in this province than in the rest of the world. The provincial ...

Genetic testing revealed Owen had Opitz G syndrome, an extremely rare genetic disorder that causes midline body defects, ...

Addressing the gathering, Union Health Secretary Smt. Punya Salila Srivastava highlighted that India’s rare disease response has evolved significantly over the past decade.

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 ...