by Genetidoc Content Team | Feb 20, 2025 | Rare Diseases
Today, we focus on Hunter Syndrome (Mucopolysaccharidosis Type II or MPS II)—a rare genetic disorder that affects the body’s ability to break down certain sugars. Over time, these sugars build up in cells, causing progressive damage to organs, bones, and the brain....
by Genetidoc Content Team | Feb 18, 2025 | Rare Diseases
Today, we talk about Congenital Adrenal Hyperplasia (CAH)—a genetic condition that affects the body’s ability to make certain hormones. It can cause problems with growth, puberty, salt balance, and stress response. Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics),...
by Genetidoc Content Team | Feb 18, 2025 | Rare Diseases
Today, we focus on Waardenburg Syndrome, a rare genetic condition that affects hearing, eye color, skin pigmentation, and facial features. Some people with this condition have hearing loss, while others may have different colored eyes or a white patch of hair. Dr....
by Genetidoc Content Team | Feb 17, 2025 | Rare Diseases
Today, we are talking about Inherited Cardiomyopathy. This is a heart disease that runs in families. It weakens the heart muscle, making it too thick, too stiff, or too weak to pump blood properly. Some people have no symptoms, while others feel breathless, get chest...
by Genetidoc Content Team | Feb 15, 2025 | Rare Diseases
As part of our 28 Days, 28 Rare Diseases campaign, today we focus on Autosomal Dominant Polycystic Kidney Disease (ADPKD)—a genetic condition that causes fluid-filled cysts to grow in the kidneys, leading to kidney problems over time. Dr. Roshan Daniel (MBBS, MD, DM...
by Genetidoc Content Team | Feb 14, 2025 | Rare Diseases
As part of our 28 Days, 28 Rare Diseases campaign, today we focus on Osteogenesis Imperfecta (OI)—a genetic condition that makes bones weak and easy to break. Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped...
