Researchers at Cardiff University have uncovered how a particularly severe form of DNA damage arises—shedding new light on ...

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 ...

Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental ...

Shane DiGiovanna was born with epidermolysis bullosa, or EB, a condition he said is described as "the worst disease you’ve ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

Non-invasive prenatal testing (NIPT) is a simple blood test during pregnancy that helps detect rare genetic conditions early, ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

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 ...

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

At 2 1/2, Kellan Cyr is as verbal as some of his preschool classmates. But when he was a baby, Michelle Cyr worried her son might never talk. Predictions that Kellan would be developmentally disabled ...

If you haven’t heard of the genetic disorder Heterotaxy, a new children’s book released by a Connecticut teacher and her ...