The recommendation by a committee advising the U.K. government that screening for prostate cancer should not be made available to the vast majority of men could benefit companies such as Antegenes OÜ. The Estonia-based company develops polygenic risk score-based testing kits which help clarify an individual's genetic predisposition to specific cancers, providing a more targeted approach.
Nearly 80% of people in Australia and the U.S. that used Genetic Technologies Ltd.’s Genetype multi-risk assessment test showed an elevated risk for at least one disease covered by the test.
Since its founding by the National Institutes of Health (NIH), the scientists of the All of Us Research Program have set the goal to analyze the largest diversity of the genomic population in the country and end the under-representation of its different groups. The project has expanded the vision of several pathologies, discovered thousands of new genetic variants, redefined the risk genes for common diseases, and stratified them, uncovering eight different forms in the case of type 2 diabetes (T2D). Their results create a pathway for a new age of precision medicine.
Social scientists are well aware of the consequences of what’s called assortative mating, that is, the fact that marriages tend to occur between people who are similar in things such as interests, social status, education and wealth. Biologists, on the other hand, have tended to ignore it. “When studying the genetic underpinnings of correlated traits, “for mathematical convenience, we’ve assumed basically for forever that mating is random,” Richard Border told BioWorld. “Which it isn’t.”
Researchers have identified miR-124 signaling and its effects on AMPA receptor neurotransmission as a biological mechanism linking the shared risk scores of schizophrenia and bipolar disorders to their shared symptoms. The work, which appeared online in Neuron on Nov. 14, 2022, focused on schizophrenia and bipolar disorder, which are both highly heritable disorders that share substantial risk. Beyond their implications for those two specific disorders, the findings illustrate a path to connecting risk scores and behaviors via their biological link.
Modern molecular techniques have progressed to the point where sequencing can seem almost quaint. At the Basic Science Symposium of the American Association for the Study of Liver Diseases 2022 meeting (AASLD 2022), new techniques were on full display, with sessions devoted to epigenetics, microbiome analysis and spatial transcriptomics. But the first session was still on genetic variants in all their forms – rare variants, common variants and nongermline mutations.
Modern molecular techniques have progressed to the point where sequencing can seem almost quaint. At the Basic Science Symposium of The Liver Meeting 2022, new techniques were on full display, with sessions devoted to epigenetics, microbiome analysis and spatial transcriptomics. But the first session was still on genetic variants in all their forms – rare variants, common variants and non-germline mutations.
The U.K. is launching a £230 million (US$260 million) project to build a database linking the health records and genetic information of 5 million people, which will be open for discovery research and as a source of clinical trial recruits for academics and companies.
The U.K. is launching a £230 million (US$260 million) project to build a database linking the health records and genetic information of 5 million people, which will be open for discovery research and as a source of clinical trial recruits for academics and companies.
Scientists from the Global Biobank Meta-Analysis Initiative (GBMI) , founded in 2019, have published initial results in the Oct. 12, 2022 issue of Cell Genomics. In a series of papers, the investigators showed that the data collected by multiple biobanks could be harmonized and jointly analyzed, despite initial differences in recruitment strategies, sample collection, and definitions of diseases. Joint analysis identified new risk loci for more than a dozen common diseases, while another paper showed that such joint analysis could also be used to identify such loci for the rare disease idiopathic pulmonary fibrosis (IPF).
