"I am genuinely the luckiest soul alive to be her mother," Taylor Guy tells PEOPLE of raising her daughter, Bralynn Powell ...

In September last year, we reported Servier had advanced its emerging neurology pipeline into the clinical trials stage by ...

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 ...

A seminal study from researchers at the Icahn School of Medicine at Mount Sinai and their collaborators in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic ...

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 ...

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 ...

The phenomenon now known as mosaic loss of chromosome Y, or mLOY, first emerged when researchers noticed that some men’s blood cells showed a missing Y in standard genomic data. A Primary study on ...

Height is one of the most evident sex-based differences observed in humans, as men are on an average 13 cm (5 inches) taller than women. Sex hormones certainly play a significant role in driving this ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By analyzing genetic data from more than six million people, researchers uncovered ...