by roshandanielpg@gmail.com | Feb 20, 2025 | Rare Diseases, Updates
Today, we focus on Tay-Sachs Disease, a rare and severe genetic disorder that affects the brain and nervous system. It destroys nerve cells, causing loss of movement, seizures, and vision problems. Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s...
by roshandanielpg@gmail.com | Feb 20, 2025 | Rare Diseases, Updates
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 roshandanielpg@gmail.com | Feb 18, 2025 | Rare Diseases, Updates
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 roshandanielpg@gmail.com | Feb 18, 2025 | Rare Diseases, Updates
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 roshandanielpg@gmail.com | Feb 17, 2025 | Rare Diseases, Updates
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 roshandanielpg@gmail.com | Feb 15, 2025 | Rare Diseases, Updates
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...
