The ability to precisely modify human genes has been made possible by the development of tools such as mega nucleases, zinc finger nucleases, TALENs, and CRISPR/Cas. These now make it possible to generate targeted deletions, insertions, gene knock outs, and point variants; to modulate gene expression by targeting transcription factors or epigenetic machineries to DNA;...
by McMaster University Credit: CC0 Public Domain Canadian scientists looking at a rare genetic mutation think they may have discovered the proverbial fountain of youth. But it’s not for everyone: so far, the mutation has only been found in a handful of French-Canadian families. Called PCSK9Q152H, the mutation of the PCSK9 gene was initially thought to...
by Children’s Hospital of Philadelphia Credit: CC0 Public Domain Researchers at Children’s Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous surgeries that had been unable to resolve her symptoms. By identifying a genetic mutation along...
RMIT UNIVERSITY IMAGE: L-R: ASSOCIATE PROFESSOR RAVI SHUKLA AND PHD RESEARCHER ARPITA PODDAR IN THEIR LAB. CREDIT: RMIT UNIVERSITY Researchers used metal-organic frameworks (MOFs) enhanced with a green tea phytochemical coating to target human prostate cancer cells for the first time. The new method for deploying the genetic snipping tool directly into target cells is a...
COLUMBIA UNIVERSITY IRVING MEDICAL CENTER NEW YORK, NY (Nov. 10, 2020)–Researchers have identified a genetic signature in localized prostate cancer that can predict whether the cancer is likely to spread, or metastasize, early in the course of the disease and whether it will respond to anti-androgen therapy, a common treatment for advanced disease. The new...
by Cedars-Sinai Medical Center Micrograph showing inflammation of the large bowel in a case of inflammatory bowel disease. Colonic biopsy. Blood clots are the biggest cause of death in patients with inflammatory bowel disease (IBD)—ulcerative colitis or Crohn’s disease. In a retrospective study recently published in the journal Gastroenterology, Cedars-Sinai investigators found that a combination of rare...
by Perelman School of Medicine at the University of Pennsylvania Delivering adeno-associated virus (AAV) vectors into the central nervous system (CNS) of nonhuman primates is associated with toxicity of sensory neurons in the dorsal root ganglia (DRG), which conventional immune suppression regimens do not prevent. Hordeaux et al. exploited a specific microRNA (miR183) that is largely...
by Geri Kelley, Kim Ward, Michigan State University Michigan State University researchers have identified a potential genetic target for treating an especially painful and invasive form of endometriosis. Their study published in Cell Reports, a scientific journal, could lead to better treatments for women suffering from severe forms of endometriosis, said Mike Wilson, a postdoctoral fellow in the MSU...
by Children’s Hospital of Philadelphia Functional magnetic resonance imaging (fMRI) and other brain imaging technologies allow for the study of differences in brain activity in people diagnosed with schizophrenia. The image shows two levels of the brain, with areas that were more active in healthy controls than in schizophrenia patients shown in orange, during an fMRI...
by Alex Gardner, Perelman School of Medicine at the University of Pennsylvania Deleting the TSC2 gene in specific lung cells of mice led to the activation of the mTORC1 signaling pathway and pulmonary disease characteristics consistent with human LAM disease, particularly in female breeder mice. These mice without TSC2 also exhibited a dysfunctional WNT cellular signaling...
