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

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

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

Guidance is provided for the pediatrician regarding the genetic evaluation of developmental delay/intellectual disability.

In a clinical report issued by the American Academy of Pediatrics and published online June 23 in Pediatrics, guidance is ...

New research has uncovered 2 neurodevelopmental disorders using data from the National Genomic Research Library. These ...

A new laboratory method developed by researchers at Columbia University Vagelos College of Physicians and Surgeons may now ...

In a comprehensive Genomic Press Thought Leaders Invited Review, researchers have synthesized findings from dozens of studies ...

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

Sydney Gardiner is appealing to kind-hearted individuals for financial help with hospital expenses for her two-year-old ...

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

Guidance from the American Academy of Pediatrics covers multiple genetic testing approaches to diagnosing developmental delay ...