by Genetidoc Content Team | Feb 28, 2025 | Rare Diseases
Today, we focus on Niemann-Pick Disease—a rare genetic condition that affects how the body processes fats (lipids). Over time, fat builds up in the brain, liver, spleen, and other organs, causing serious health problems. Dr. Roshan Daniel (MBBS, MD, DM Medical...
by Genetidoc Content Team | Feb 27, 2025 | Rare Diseases
Today, we are talking about Fabry Disease—a rare genetic condition that affects how the body breaks down certain fats. Over time, these fats build up and damage the skin, nerves, heart, kidneys, and other organs. Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one...
by Genetidoc Content Team | Feb 26, 2025 | Rare Diseases
Today, we’re talking about Albright’s Hereditary Osteodystrophy (AHO)—a rare genetic condition that affects how the body grows and responds to certain hormones. Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading experts in genetics, has helped...
by Genetidoc Content Team | Feb 25, 2025 | Rare Diseases
Today, we focus on Spinocerebellar Ataxia (SCA)—a rare genetic condition that affects the brain and nervous system. It causes problems with balance, movement, and coordination. Over time, it can make walking, talking, and doing daily activities harder. Dr. Roshan...
by Genetidoc Content Team | Feb 25, 2025 | Rare Diseases
Today, we are talking about Klinefelter Syndrome, a genetic condition that affects boys and men. It happens when a male is born with an extra X chromosome, making the total XXY instead of the usual XY. This extra chromosome can lead to low testosterone levels, which...
by Genetidoc Content Team | Feb 23, 2025 | Rare Diseases
Today, we talk about Retinitis Pigmentosa (RP)—a genetic eye disorder that causes gradual vision loss. It affects the retina, the part of the eye that senses light. Over time, vision gets worse, especially at night and in dim light. Dr. Roshan Daniel (MBBS, MD, DM...