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...
by Dr Roshan Daniel | Oct 7, 2026 | Rare Diseases
For many parents, an autism diagnosis is followed almost immediately by one question: “Why?” Did something happen during pregnancy? Is it from one side of the family? Will our next child have it too? Genetic testing cannot answer every one of these...
by Dr Roshan Daniel | Oct 6, 2026 | Rare Diseases
Some families first hear the words “Marfan syndrome” from an eye doctor, after a child’s lens is found to be out of place. Others hear it from a cardiologist, after a routine heart scan shows a widened aorta. And...