news, journals and articles from all over the world.
A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers.
Research has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug. The study, published in the Proceedings of the National Academy of Sciences, has the potential to transform treatment for this rare disease and may also have implications for more common diseases.
Researchers at Washington University School of Medicine in St. Louis and the University of Wisconsin–Madison identified the genetic causes of three mitochondrial diseases by figuring out what dozens of poorly understood mitochondrial proteins do.
Scientists created a potentially powerful new strategy for treating cystic fibrosis and potentially other diseases; it involves small, nucleic acid molecules called oligonucleotides that can correct some of the gene defects that underlie CF but are not addressed by existing modulator therapies.
The complex patterns of genetic ancestry uncovered from genomic data in health care systems can provide valuable insights into both genetic and environmental factors underlying many common and rare diseases, according to a team of Mount Sinai researchers.
The Coriell Institute for Medical Research has added a new collection of stem cells to its biobank offerings. The new collection is a result of a collaboration between Coriell and the Rett Syndrome Research Trust (RSRT) and consists of 10 lines of human induced pluripotent stem cells created from blood donated by individuals with Rett syndrome.
Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflammatory syndrome affecting an 18-year-old girl since infancy.
“Under-representation of Asian populations in genetic studies has meant that medical relevance for more than half of the human population is reduced,” one researcher said.
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