Study suggest there are currently almost 300 genetic disorders which can be treated in utero or in the first week of life A collaboration drawing researchers from Mass General Brigham, ...

With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...

A federal advisory committee that provides guidance on which rare diseases newborns should be screened for has been dissolved ...

MONDAY, April 14, 2025 (HealthDay News) -- Current newborn screening for cystic fibrosis favors white children over those ...

The health secretary said he would prioritize studies into environmental causes while harshly discounting other factors scientists say are likely contributing to rising rates of the condition.

Scientists at Mohammed Bin Rashid University of Medicine and Health Sciences (MBRU), which leads the Learning and Discovery missions of Dubai Health, have identified a novel genetic disorder affecting ...

A new study published in the Journal of Affective Disorders has identified a two-way relationship between ...

Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing ...

Researchers have completed a comprehensive natural history study of SCN8A-related disorders, which represent a spectrum of neurological symptoms. The study, using retrospective clinical information ...

Changes in brain connectivity before and after puberty may explain why some children with a rare genetic disorder have a higher risk of developing autism or schizophrenia, according to a UCLA Health ...

Researchers from the Epilepsy Neurogenetics Initiative (ENGIN) at Children's Hospital of Philadelphia (CHOP) have completed a comprehensive natural history study of SCN8A-related disorders, which ...

We are proud to lead this important genetic discovery as part of a global collaboration and generate knowledge that holds ...