Families in Connecticut and beyond are looking for answers when it comes to treating Angelman Syndrome, but fear funding ...

Researchers from the University of Bayreuth have discovered the mechanism by which collagen, the most common protein in the ...

While Emma has Down syndrome — specifically a rare type called Mosaic Down syndrome — some people don’t believe it. “At the ...

POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

To mark World Down Syndrome Day on March 21, Fox News contributor Tom Shillue headed to Times Square to speak with a father ...

Saturday is Lynch Syndrome Awareness Day. A relatively common condition, that not many people might know about. A G.I. prevention doctor told 11 News that Lynch Syndrome is underdiagnosed, and doesn’t ...

An international team led by UPV/EHU and Biobizkaia reveals the relationship between placental DNA methylation and certain ...

Baylor Genetics, a clinical diagnostic laboratory celebrating a decade at the forefront of genetic testing, today shared ...

An international team, led by the Immunogenetics Research Laboratory (IRLab) at the University of the Basque Country (UPV/EHU ...

World Down Syndrome Day is March 21 (or 3-21) to represent the third copy on a 21st chromosome. The event took place at a ...

today shared research on the value of both genetic and functional testing in diagnosing mitochondrial disorders at the 2025 ACMG Annual Clinical Genetics Meeting, in Los Angeles, CA. The session ...