Congenital Hyperinsulinism (CHI) is a rare genetic disorder of pancreatic β-cells that secrete excess amount of insulin causing severe persistent hypoglycemia (low blood glucose) in new-born babies and children. Insulin,...
What is Cystic fibrosis? Cystic fibrosis is a genetic condition that affects multiple body systems including the lungs and pancreas, causing the most common symptoms of frequent lung infections and...
We appreciate the efforts of Ms. Panchami.P, MSc. BMG, VIT, Vellore in curating the content for Vasculitis . Last updated : 18th June...
We appreciate the efforts of Dr. Anagha Warrier, MSc. BMG, VIT, Vellore in curating the content for Scleroderma . Last updated : 18th July 2020...
Introduction : It is a disease that affects mainly the nervous system and immune system. It is Classic A-T is characterised by cerebellar ataxia , ocular telangiectasia, immunodeficiency(mainly low IgA),...
About Fabry Disease Fabry disease is a rare genetic disorder that is caused due to the deficiency of an enzyme called α-galactosidase A (α-Gal A). It is caused by mutations...
We appreciate the efforts of Ms. Panchami.P, MSc. BMG, VIT, Vellore in curating the content for Cushing‘s syndrome. Last updated : 16th June...
Usher Syndrome Usher syndrome is the most common genetic cause of combined deafness and blindness. Individuals with Usher syndrome experience hearing loss, either profound, mild or moderate, at, or soon after,...
Usher syndrome is the most common genetic cause of combined deafness and blindness. Individuals with Usher syndrome experience hearing loss, either profound, mild or moderate, at, or soon after, birth. They...
Our Executive Director Mr. Prasanna Shirol was a part of First Ever summit dedicated to advancing equitable care for rare diseases in older adults. The meeting was attended from 25 countries across Canada, Latin America, Europe, and Asia, representing patient and caregiver communities, patient advocates, healthcare professionals, and healthcare policy experts. This is a short video highlighting the impact of the initiative to date, in the words of the COLLABORATE Community.
