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 ...
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 ...
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 ...
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Genetic breakthroughs reshaping rare disease care
From decoding the tiniest RNA malfunctions to discovering that two genetic defects can sometimes restore health, scientists are rewriting how we understand rare diseases. New research is revealing ...
Gaucher disease, one of the most common lysosomal storage disorders, remains widely underdiagnosed in India and globally, despite being a treatable genetic condition. Caused by a deficiency of the ...
Portia Cina is an 18-year-old from New Jersey who wakes up every single morning and spends 45 minutes moisturizing her entire ...
Addressing the gathering, Union Health Secretary Smt. Punya Salila Srivastava highlighted that India’s rare disease response has evolved significantly over the past decade.
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