An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

Human egg cells are often prone to chromosomal errors. As women age, the error rate increases sharply — and can contribute to infertility, pregnancy loss, and ...

CNBC’s Becky Quick joins TODAY to talk about her daughter Kaylie's journey with SynGAP1, a rare genetic disorder that limits ...

Becky Quick opens up about her 9-year-old daughter Kaylie’s rare genetic disorder, explaining the symptoms, diagnosis, and ...

Robertsonian chromosomes are large chromosomes that form when the long arm of a chromosome breaks and fuses with another chromosome. They are the most common type of chromosome rearrangement in humans ...

Kammy’s Kause, an annual event now in its 20th year, continues to make a significant impact in the community, bringing together people for a cause that supports individuals with rare chromosome ...

A recent study finds that certain psychiatric disorders have considerable genetic overlap. But these genes aren’t the whole ...

And in an account on ew.com Bailey explained that now he’s an “ambulatory wheelchair user.” Although he can stay on his feet ...