HYDERABAD: An eight-year-old child with a rare genetic disorder ‘Alagille Syndrome’ was successfully treated with a liver transplant in a city-based hospital. The child was only 12kg and 105cm. His...
Maggie Carmichael wasn’t developing like other kids. As a toddler, she wasn’t walking and had a limited vocabulary for her age. She was diagnosed with PMM2-CDG, potentially fatal gene mutations...
Eight Centres of Excellence (CoEs) have been identified for diagnosis, prevention and treatment under National Policy for Rare Diseases 2021 Provision for financial support of up to Rs. 50 lakhs...
The woman, whom the disease might not have given a few months to live, was discharged from the hospital on July 23 in good condition and full blood count recovery...
According to data from the Union Ministry of Health and Family Welfare, the IMR was 21 per 1,000 live births in Karnataka in 2019, whereas the all-India average was 30....
The Health department has distributed drugs for Spinal Muscular Atrophy (SMA) free of cost to 14 children with the rare disease, Health Minister, Veena George, has said in a statement....
The levels of BNIP3, a protein implicated in muscle fiber atrophy and increased autophagy — two features of late-onset Pompe disease (LOPD) — are increased in muscle samples from LOPD patients relative...
A 21-year-old fighting battle with a rare genetic disease calls for an inclusive infrastructure in schools and colleges for the disabled. Access to education for disabled students has become challenging....
Kochi: Preethu Jayaprakash, 28, who became a Chartered Accountant by fighting the permanent disability arising out of the rare genetic disorder Spinal Muscular Atrophy (SMA), finally succumbed to her injuries...
Pfizer revealed plans to open sites in the U.S. for a phase 3 study evaluating an investigational mini-dystrophin gene therapy in ambulatory patients with Duchenne muscular dystrophy. The announcement comes...
