by genetidoc | Feb 12, 2025 | Rare Diseases
As part of our 28 Days, 28 Rare Diseases campaign, today we focus on Gaucher Disease—a genetic disorder where the body cannot properly break down certain fats (lipids), leading to their buildup in organs like the liver, spleen, and bone marrow. Dr. Roshan Daniel...
by roshandanielpg@gmail.com | Feb 11, 2025 | Rare Diseases, Updates
As part of our 28 Days, 28 Rare Diseases campaign, today we talk about Wilson Disease—a genetic condition where the body cannot get rid of extra copper. Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s leading medical geneticists, has helped many...
by roshandanielpg@gmail.com | Feb 10, 2025 | Rare Diseases, Updates
Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today we focus on DiGeorge Syndrome (22q11.2 Deletion Syndrome)—a genetic condition that can affect multiple organs in the body. Dr. Roshan Daniel (MBBS, MD, DM Medical...
by genetidoc | Feb 9, 2025 | Rare Diseases
Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today we focus on Maple Syrup Urine Disease (MSUD)—a rare but serious inherited metabolic disorder that affects the body’s ability to break down certain amino acids. Under the...
by genetidoc | Feb 8, 2025 | Rare Diseases
Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today, we focus on Phenylketonuria (PKU)—a genetic metabolic disorder that affects how the body processes protein. Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of...
by roshandanielpg@gmail.com | Feb 2, 2025 | Rare Diseases, Updates
Continuing our 28 Days, 28 Rare Diseases campaign by KIMSHealth, Trivandrum, Kerala, India, today we focus on Fragile X Syndrome (FXS)—one of the most common genetic causes of intellectual disability and autism spectrum disorder (ASD). Led by Dr. Roshan Daniel (MBBS,...
