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UrduA study reveals genetic subtypes, biomarkers, gene and pathway targets for the development of new treatments for this liver disease
Tag: Human Genetics
The look of your eyebrows is in your genes; A new study uncovers genes that define the appearance of eyebrows
The first gene mapping study on eyebrow thickness in Europeans discovered three previously unreported genetic loci, as reported in a Letter to the Editor in the Journal of Investigative Dermatology, published by Elsevier.
Stay CALM when the heart skips a beat
A new CALM mutation causes lethal arrhythmia in humans. Using cardiomyocytes — or heart muscle cells — from human iPS cell and recombinant calmodulin proteins, the group studied catecholaminergic polymorphic ventricular tachycardia — or CPVT, a rare and life-threatening genetic condition. The team was able to reproduce severe arrhythmia in patient-derived iPS cell models of exercise-induced CPVT with calmodulin mutations.
Gene editing via CRISPR/Cas9 can lead to cell toxicity and genome instability
Researchers at IRB Barcelona identify critical spots on the genome where gene editing could cause an unwanted response, and they provide recommendations for safer approaches.
Tissue Model Reveals Key Players in Liver Regeneration
The human liver has amazing regeneration capabilities: Even if up to 70 percent of it is removed, the remaining tissue can regrow a full-sized liver within months.
Harmless cells transform into ruthless trained killers
Processes in the human body could turn groups of harmless immune cells into ruthless killers, capable of attacking other cells infected with viruses or parasites, and potentially tumour cells, a new study reveals.
Penn Medicine Awarded $9.5 Million Grant from The Warren Alpert Foundation to Increase Diversity in Genetic Counseling Programs
Penn Medicine has been awarded a $9.5 million grant from The Warren Alpert Foundation (WAF) to continue its efforts to increase diversity in genetic counseling, a field that, despite impressive leaps forward in genetic knowledge, lacks a diverse workforce.
Prehistoric humans rarely mated with their cousins
The researchers re-analyzed previously published DNA data from ancient humans that lived during the last 45,000 years to find out how closely related their parents were.
Transatlantic slave trade introduced novel pathogenic viruses in the Americas
The transatlantic slave trade may have introduced new pathogenic viruses from Africa to North America that affected Indigenous communities, shows an analysis of ancient DNA published in eLife.
Novel mechanism links genetic defect in IBD patients to gut leakiness
A team of researchers led by a biomedical scientist at the University of California, Riverside, has identified a novel mechanism by which loss-of-function mutations in the gene PTPN2, found in many patients with inflammatory bowel disease, or IBD, affect how intestinal epithelial cells maintain a barrier.
Sanford Burnham Prebys scientists elected as AAAS Fellows
Two Sanford Burnham Prebys Medical Discovery Institute scientists have been honored as 2020 Fellows by the American Association for the Advancement of Science (AAAS). Eva Engvall, Ph.D., professor emerita; and Hudson Freeze, Ph.D., professor and director of the Human Genetics Program, were named Fellows in a vote by the AAAS Council.