Experts believe there are only five known cases in the United States, of Beta-mannosidosis, an ultra-rare genetic disorder.

Madison Sisson tells PEOPLE why she began sharing her journey raising two sons with leukocyte adhesion deficiency on TikTok.

Charlie Health reports that eating disorders are significantly influenced by genetics, with family history increasing risk ...

Scientists at The Jackson Laboratory (JAX) have developed mouse models that survive premature death and enable pre-clinical ...

A complex endocrine disorder with genetic roots, affecting women's health and fertility, requiring early intervention.

University of Otago–Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare ...

Colin Farrell opened up to PEOPLE about his son James, who was diagnosed with Angelman syndrome. Here’s what to know about the rare neurogenetic disorder that affects 1 in 15,000 people.

Donald Gallant's son, Kristopher, was born with a rare genetic disorder affecting his chromosomes. This is his story, and his ...

St. Vincent Hospital and Aurora BayCare Medical Center became pilot sites for genomic testing in 2024. Bellin Hospital will ...

A Yukon couple searches for support as their baby receives a rare central hypoventilation syndrome diagnosis, a condition ...

Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are ...

The results of experiments in mice models were "astounding," said biochemist Suzanne Pfeffer of Stanford University.