FSU President Richard McCullough, left, and Rep. Adam Anderson, right, unveil a check funding the Institute for Pediatric Rare Diseases during a ceremony on campus on July 9, 2025. (Photo by Jay ...

Ann & Robert H. Lurie Children’s Hospital of Chicago has received an $11 million gift to establish the Edwards Family Division of Genetics and Rare Diseases.

Adding genetic testing to the evaluation of pediatric patients with neurodevelopmental disorders (NDD) resulted in more individualized care, including changes in medication, referrals to clinical ...

UCSF Benioff Children’s Hospital Oakland is enrolling patients in an innovative clinical trial that seeks to cure sickle cell disease. The trial is the first in the U.S. to apply non-viral CRISPR-Cas9 ...

Chicago's Lurie's Children's Hospital will expand care for patients living with rare genetic diseases and conditions thanks to a $11 million donation.

Cutting-edge DNA mapping technology identified new genetic information that can help researchers decipher more genetic diseases, a new study found. The research will be presented at the Pediatric ...

The Clinical Genome Resource (ClinGen), a resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 genes curated for relevance to genetic ...

The parents of 7-week-old Dhruvan Gopi were warned he might not survive the night as specialists converged around his crib at ...

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

A research team led by the Department of Pediatrics and Adolescent Medicine, School of Clinical Medicine, LKS Faculty of ...

A new study from the University of Oklahoma suggests that small genetic differences in two proteins—previously known for ...