Fragile X disorders include two distinct conditions: fragile X syndrome (the most common single-gene cause of developmental delay and autism) and an entirely separate group of premutation syndromes.

An experimental technique that patches defective DNA with donated genetic material helped families at risk of passing rare ...

The Trump administration is encouraging people to have more children, with baby bonuses and tax breaks. But some families who ...

Terry and Pooja Farish learned that their daughter Aria has POLG, and are now trying to ensure other people do not go through ...

Purple urine? Skin like tree bark? An allergy to water? To the patients who have them, these weird diseases, syndromes and ...

Enzo Cornejo tells the anaesthetists he wants to know exactly when they are going to put him to sleep. There’s something ...

Advice Dear Annie: My family held grudges against me when I was a child and now I’m doing that with my stepkids Published: Jun. 27, 2025, 11:30 a.m.

Enrollment in company’s first-of-its-kind placebo-controlled Phase 2 study to evaluate the efficacy of crofelemer for microvillus inclusion disease (MVID) in pediatric patients has reached ...

This Staten Islander went from a small-town girl struggling with her identity to an award-winning executive director who transformed autism services on Staten Island.

Children with progeria have an average life expectancy of just 13 to 15 years, with most dying from heart attacks or strokes at a young age.