Autor: Genetics News – Genetics Science, Genetics Technology, Genetics
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Childhood deafness: Researchers identify over 200 mutations, including previously unknown variants
Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of syndromes associated with other symptoms, such as Usher syndrome type 1. In a study published in the Proceedings of the National Acade…
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Your genes determine how fast your DNA mutates with age, study shows
An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated over and over, become longer and more unstable as we age. The study found that common genetic variants can speed up or slow do…
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Shroom3 mutation linked to kidney scarring offers new drug target
Nearly 1 in 7 adults in the United States lives with chronic kidney disease, a condition that often advances quietly until serious damage has occurred. While diabetes and high blood pressure are well-known culprits, researchers have long puzzled over w…
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Targeting epigenetic modifiers and splicing regulators together may offer new acute myeloid leukemia treatment paths
Treating acute myeloid leukemia (AML) depends on knowing what goes wrong inside cells. A new study suggests that two genetic mutations—IDH2 and SRSF2—work cooperatively to mis-splice RNA messages and change how blood cells develop.
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Schizophrenia-linked genetic variant renders brain receptor unresponsive to both natural and therapeutic compounds
A genetic mutation passed from mother to children in families affected by schizophrenia has now been shown to completely silence a brain receptor that pharmaceutical companies are racing to target with new drugs.
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Brazil’s genetic treasure trove: Supercentenarians reveal secrets of extreme human longevity
A Viewpoint published in Genomic Psychiatry by Dr. Mayana Zatz and colleagues at the Human Genome and Stem Cell Research Center, University of São Paulo, examines why Brazil represents one of the most valuable yet underutilized resources for understand…
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Schizophrenia and osteoporosis share 195 genetic loci, highlighting unexpected biological bridges between brain and bone
A comprehensive genetic investigation led by Dr. Feng Liu at Tianjin Medical University General Hospital has uncovered striking molecular connections between schizophrenia and bone health, identifying 195 shared genetic loci that may explain why psychi…
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Proximity matters: Claudin-1 as an unexpected guardian of central tolerance
Scientists from the Institute of Molecular Genetics of the Czech Academy of Sciences, in collaboration with the Faculty of Science at Charles University, have uncovered a completely new role for the protein Claudin-1 in the immune system. The study is …
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For the first time, a mechanism enabling breast cancer to metastasize to the brain has been deciphered
A large-scale international study, led by researchers from the Gray Faculty of Medical and Health Sciences at Tel Aviv University, has uncovered a mechanism that allows breast cancer to send metastases to the brain—a highly lethal occurrence for which …
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Enzyme replacement therapy offers hope for ultra-rare Hunter syndrome
Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.