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

All the families had children with a severe developmental disorder, which was undiagnosed despite prior testing through their national health service and likely to be caused by a single genetic ...

Standard care relies on physicians suspecting genetic diseases in infants and referring them for testing. An exclusion-based approach detected genetic diseases in eight times more infants.

At only two days old, Sophie was losing too much weight, and too quickly. Further genetic testing would show that Sophie has ...

But no state tests babies for all known inherited metabolic disorders. Improved testing technology has led many states to expand newborn screening for genetic metabolic disorders. The National ...

Supporting children with genetic diseases is “crucial”, Health Minister Michael Damianos said on Saturday. Speaking at an event held to mark World Rare Disease day, he said the event ...

Sindrom horner adalah sindrom langka yang bisa menyerang mata siapa saja, termasuk anak-anak. Faktor keturunan bisa jadi ...

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 ...

The drug fosdenopterin/rcPMP considerably improves the chances of survival and developmental progress in infants with ...

There is no cure forHarlequin ichthyosis, and the treatments given tend to work to treat symptoms, protect the skin and ...

A large study finds that maternal diabetes is linked to increased risks of brain and nervous system disorders in children. Data from over 56 million mother-child pairs showed higher risks for autism, ...