Introduction In every clinic, behind every genetic report, there is a family seeking answers — and often, hope. Genetic counseling is not just about explaining test results or inheritance patterns; it’s about guiding families through some of the most emotionally charged moments of their lives. In a country as vast and diverse as India, where cultural traditions, consanguinity, and population density intersect, the need for structured, empathetic, and accurate genetic counseli

If you're like myself, the disease 'Usher Syndrome' was fairly foreign until stumbling across the Every Second Counts campaign advertisement on Hulu starring American author and disability advocate Rebecca Alexander, along with Michael Mullarkey, who was recently diagnosed at the age of 1. The phrase “How would you live your life differently if you knew it was only a matter of time before you went completely deaf and blind?” in particular, is what started the creation of this

Did you know cystic fibrosis was first discovered in the pancreas?     In 1938 Dr. Dorothy Anderson, an American pathologist coined the term “cystic fibrosis of the pancreas” based on autopsies of children dying of malnutrition, due to failure of the pancreas. The children in those days did not survive long enough to develop lung disease. What is Cystic Fibrosis (CF)? Cystic fibrosis is a genetic disorder caused by mutation in the gene that codes for the cystic fibrosis trans

By Nikki Elmi Macrodystrophia Lipomatosa (MDL) is a rare congenital overgrowth disorder characterized by an excessive and disproportionate growth of one or more digits (fingers or toes), and sometimes an entire limb. The overgrowth involves not just adipose (fat) tissue but also other mesenchymal components; bone, nerves, connective tissue, possibly muscles and periosteum. Typically present from birth or early childhood, the disorder often becomes more prominent as the child