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Published on May 12, 2023
The National Institutes of Health (NIH) announced Thursday a new program dubbed the Common Fund’s Somatic Mosaicism Across Human Tissues (SMaHT) Network, a five-year $140 million effort to better understand the level of genetic variation present in cells throughout the human body. The SMaHT Network will be managed collaboratively among…
Published on March 7, 2023
Research led by Oregon Health & Science University suggests current testing methods may be insufficient to pick up genetic mutations introduced through the process of gene editing. As technologies such as CRISPR gene editing are now widespread and being assessed as ways to treat genetic diseases, it is important to…
Published on January 3, 2023
Researchers at the University of California San Diego (UCSD) School of Medicine and Rady Children’s Institute for Genomic Medicine have created a deep learning tool that uncovers disease-causing mosaic mutations, a first step they say to find ways to develop treatments for many diseases. Mosaic mutations are only present in…
Published on October 21, 2021
Many powerful genome editing approaches must create breaks across both strands of the DNA double helix and rely on the cell’s own DNA repair machinery to introduce desired changes in the sequence. If a cell fails to repair these DNA double-strand breaks (DSBs) efficiently and accurately, the genome becomes unstable,…
Published on December 7, 2020
In my clinical practice, nothing has changed my work as dramatically as non-invasive prenatal testing,” says Maximilian Schmid, M.D., global head of Medical Affairs at Roche Sequencing Solutions. “It has brought genetics to the very core of clinical practice. I see it as one of the first applications of the…
Published on October 28, 2020
Using a genotype-first strategy for disease discovery, a multidisciplinary team of NIH researchers has identified a new inflammatory disorder, called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene. The disorder, which appears to result in high mortality among those male…
Published on December 26, 2019
While our understanding of the genetics and molecular mechanisms underlying autism spectrum disorder (ASD) continue to improve, having better diagnostic tools that can accurately asses the chances the disease will arise in offspring is critical information many would-be parents crave. Many researchers believe both genetics and the environment play a…
Published on October 17, 2019
Bionano Genomics announced at the American Society of Human Genetics (ASHG) annual meeting in Houston that PerkinElmer Genomics and the University of Iowa have both adopted use of Bionano’s Saphyr whole-genome imaging platform in their assay development labs, with PerkinElmer being the first to develop and validate an assay based…
Published on August 28, 2019
A task force of the Alliance for Regenerative Medicine (ARM) consisting of gene-editing therapy developers today sided with the emerging scientific consensus against germline gene editing in human clinical research without coming to terms with legal, ethical, and other implications—part of a statement intended to articulate a bioethical framework for…
Published on May 22, 2019
Nearly six months after He Jiankui, Ph.D., stunned the world by disclosing, then defending, his controversial germline editing research resulting in the birth of twins, the U.S. National Academy of Medicine (NAM), the U.S. National Academy of Sciences (NAS), and the Royal Society of the U.K., have joined with science…
Published on May 10, 2018
Sponsor: 10x Genomics The Chromium Single Cell CNV Solution is a scalable and easy-to-use technology for rapid and massively parallel profiling of single-cell genomes. This solution is the first to be built on the company’s new technology advancement for generating Cell Beads and Gel Beads (CBGBs). Chromium Single Cell CNV…
Published on August 4, 2017
A landmark study, published in Nature on August 2, 2017, has described the first timein the U.S. that CRISPR was used to repair a germline mutation in human embryos created through in vitro fertilization. The study was a collaboration between the Salk Institute, Oregon Health and Science University (OHSU), and…