by Dr Roshan Daniel | Oct 14, 2026 | Rare Diseases
Quick answer Genetic testing helps most when a baby has seizures that start in the first months of life, keep coming back without a clear cause, do not respond well to medicines, or come with slow development or regression. In these babies, a genetic cause is found in...
by Dr Roshan Daniel | Oct 13, 2026 | Rare Diseases
One of the first questions many parents ask is about screening. Does the double marker test work the same way for twins? Can you do Non-Invasive Prenatal Testing (NIPT) with two babies? What happens if a result comes back “high risk” and you do not know...
by Dr Roshan Daniel | Oct 12, 2026 | Rare Diseases
Quick answer: What is chimerism? Chimerism is when one person’s body contains cells with two (or more) different sets of DNA. It happens when cells from two different fertilized eggs, a twin, a mother and baby, or a transplant donor live together in one body....
by Dr Roshan Daniel | Oct 10, 2026 | Rare Diseases
When a woman tests positive for a BRCA gene change, the conversation usually turns to her sisters and daughters. Her brothers, father, and sons are often forgotten. That gap matters. Men inherit BRCA variants just as often as women do. They face real, manageable...
by Dr Roshan Daniel | Oct 9, 2026 | Featured News, Rare Diseases
Quick answer: What is Cowden syndrome? Cowden syndrome is an inherited condition caused by a harmful change (variant) in the PTEN gene. It causes non-cancerous growths called hamartomas in the skin, mouth, gut, thyroid and breast, and it raises the lifetime risk of...