September 28, 2024 by Leigh MacMillan, Vanderbilt University Medical Center This tool identifies groups of people who share an IBD segment spanning a specific genomic region (in this study, the gene KCNE1). A DRIVE first selects the pairwise IBD segments spanning the target gene/variant among clinic samples and biobank subjects. B DRIVE uses a random...
Tag: <span>Genetic disease</span>
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World’s fastest genome sequencer diagnoses genetic disease in hours
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...
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An often overlooked cause of genetic disease
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...
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Researchers tease out root causes of devastating genetic disease
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...
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Vanderbilt-led team discovers new genetic disease and defines underlying mechanism
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...
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Phage therapy treats patient with drug-resistant bacterial infection
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...
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New platform poised to be next generation of genetic medicines
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...
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Cell discovery could help with research on genetic diseases
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...