Should kids be screened for high cholesterol genes? Study weighs costs and benefits
In the United States, 1 in every 250 people has inherited a genetic variant that leads to dangerously high cholesterol levels from birth.
Nov 9, 2025
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Investigative Techniques: News and Research on Neonatal Screening
MeSH tree: E05.200.910
Researchers find new genetic cause of severe combined immune deficiency disease
Researchers from Nijmegen and Newcastle have discovered a new genetic mutation leading to severe combined immune deficiency disorder (SCID). It's the first time a mutation in the proteasome, a molecular shredder, has been ...
Mar 19, 2024
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Study shows survival benefit of augmentation therapy for people with the genetic lung condition AATD
Boosting levels of a deficient protein has clear survival benefits for people with the genetic condition alpha-1 antitrypsin deficiency (AATD), according to new research led by RCSI University of Medicine and Health Sciences. ...
Nov 1, 2023
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Study finds that experts support DNA sequencing in newborns
Babies born in U.S. hospitals currently undergo routine newborn screening, a laboratory test to identify the risk of up to 60 treatable conditions. But hundreds of genetic disorders, including a growing number of devastating ...
May 8, 2023
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Novel newborn screening system uses rapid whole genome sequencing to screen and diagnose genetic diseases
Rady Children's Institute for Genomic Medicine (RCIGM) today announced the publication of a study in the American Journal of Human Genetics (AJHG) describing a scalable prototype for newborn screening (NBS) that includes ...
Aug 24, 2022
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