by University of Southern California Credit: Unsplash/CC0 Public DomainA previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study. The variant, located in a mitochondrial microprotein dubbed SHLP2, was found to be...
By Andrew Joseph May 15, 2023 PET imaging of the brain of a man who appears to have been genetically protected against early Alzheimer’s.JUSTIN SANCHEZ For the second time in one extended family, researchers have identified a person who seemed genetically destined to develop early Alzheimer’s, but remained cognitively sound for several more decades. Like...
by Will Doss, Northwestern University EagleC predicts a full range of high-resolution SVs from chromatin interaction data. (A) Workflow of the EagleC framework. (B to G) Examples showing different types of SVs predicted by EagleC. The black dashed circle indicates the SV breakpoint position in each case. The resolution of each Hi-C map is labeled...
New research from an international collaboration, including researchers from the Garvan Institute of Medical Research, has identified a rare genetic mutation in people of Polynesian descent, which increases their risk of severe viral infection or death. Researchers studied the highly unusual cases of seven Polynesian previously healthy children. Still, they developed severe or fatal reactions...
by Laval University Credit: Pixabay/Pete Linforth. Researchers from the Université Laval Faculty of Medicine and CHU de Québec–Université Laval Research Center have successfully edited the genome of human cells grown in vitro to introduce a mutation providing protection against Alzheimer’s disease. The details of this breakthrough were recently published in The CRISPR Journal. “Some genetic mutations increase the...
by Pasteur Institute Airway basal cells from an animal model in culture marked red by cytokeratin 14 (a specific marker). The nuclei are stained blue with DAPI, a fluorescent molecule. Credit: Integrative Neurobiology of Cholinergic Systems Unit at the Institut Pasteur In 2019, the WHO positioned chronic obstructive pulmonary disease (COPD) third in the global...
by Patty Shillington, University of Massachusetts Amherst Researchers created neurons from cell specimens donated by schizophrenia patients with a rare genetic mutation. Credit: UMass Amherst A scientific team has shown that the release of neurotransmitters in the brain is impaired in patients with schizophrenia who have a rare, single-gene mutation known to predispose people to a range...
WELLCOME TRUST SANGER INSTITUTE For the first time, scientists are able to study changes in the DNA of any human tissue, following the resolution of long-standing technical challenges by scientists at the Wellcome Sanger Institute. The new method, called nanorate sequencing (NanoSeq), makes it possible to study how genetic changes occur in human tissues with...
by Hebrew University of Jerusalem Credit: CC0 Public Domain Recent years have provided substantial research displaying the effect of genetic mutations on the development of autism and other neurodevelopmental disorders. Based on those studies, researchers have focused attention on the commonalities behind those mutations and how they impact on the functioning of the brain. A study conducted by Professor Sagiv...
Researchers at the New York Genome Center (NYGC) and Columbia University have uncovered a molecular mechanism behind one of biology’s long-standing mysteries: why individuals carrying identical gene mutations for a disease end up having varying severity or symptoms of the disease. In this widely acknowledged but not well-understood phenomenon, called variable penetrance, the severity of the...
