By Michael Irving January 17, 2022 A new technique can sequence a person’s entire genome and diagnose genetic disease in just a few hours SSilver/Depositphotos Genome sequencing can be used to determine whether a patient’s illness is genetic, but it usually takes weeks to get results. A new ultra-rapid technique can sequence a person’s genome...
Often overlooked because they might not alter the amino acid production, splicing defects can play an important role in rare genetic pituitary gland diseases. Several clinical endocrinologists and bioinformaticians, led by Sally Camper and Jacob Kitzman, professors of Human Genetics at the University of Michigan Medical School, came together to further investigate splicing defects and...
by Michael Haederle, University of New Mexico Health Sciences Center Credit: Pixabay/CC0 Public Domain Tuberous sclerosis complex (TSC) afflicts as many as two million people around the world, affecting multiple organs, including lungs, brain, skin and kidneys. In about 80 percent of cases, it causes cysts and benign tumors to form in the kidney, eventually...
Studies that started in zebrafish have now pointed to a role for collagen secretion in a wide variety of clinical symptoms — and in a newly identified genetic syndrome. Ela Knapik, MD, associate professor of Medicine at Vanderbilt University Medical Center, and her colleagues discovered the syndrome caused by mutation of a single gene and...
by Howard Hughes Medical Institute The patient, a 15-year-old girl, had come to London’s Great Ormond Street Hospital for a double lung transplant. It was the summer of 2017, and her lungs were struggling to reach even a third of their normal function. She had cystic fibrosis, a genetic disease that clogs lungs with mucus and plagues...
July 16, 2018, City of Hope A City of Hope scientist has discovered a gene-editing technology that could efficiently and accurately correct the genetic defects that underlie certain diseases, positioning the new tool as the basis for the next generation of genetic therapies. City of Hope’s Saswati Chatterjee (left), Ph.D., discovered a gene-editing technology that...
The discovery will enable scientists to study the breadth and depth of cell biology. This has implications for research into autoimmune diseases like Alzheimer’s and Parkinson’s. Led by Dr Anastasios Tsaousis from the School of Biosciences, in collaboration with Dr Joel Dacks from the University of Alberta (Canada), a team of researchers discovered a rare...
