Genetics

BabySeq 2.0: Bringing equity to genomic sequencing in newborns

Today, nearly 900 disorders caused by a single gene are known to be treatable. Yet the recommended "heel stick" testing for newborns only covers about 60 inherited, treatable disorders, and many individual states screen for ...

Diabetes

Is universal screening for type 1 diabetes around the corner?

The latest data on universal screening for type 1 diabetes (T1D) is reviewed in a session at this year's Annual Meeting of the European Association for the Study of Diabetes (EASD) in Hamburg, Germany (2–6 October). The ...

Genetics

Should we screen all newborns for neurodevelopmental disorders?

Expanding newborn screening (NBS) to include identifying genes associated with an increased risk for neurodevelopmental disorders (NDD) would cause more harm than good, according to an article published in Pediatrics. While ...

Diseases, Conditions, Syndromes

Is the cure for genetic beta thalassemia finally within reach?

UCSF Benioff Children's Hospital Oakland is the first hospital in the West to administer a newly approved gene therapy to treat beta thalassemia, a rare, genetic blood disorder that causes severe anemia, with a need for lifelong ...

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