A genome-wide association study (GWAS) from The University of Queensland has linked blood cell traits (BCTs) and neurological and psychiatric disorders (NPDs), providing a tool to improve patient treatments or repurposing different drugs. The researchers also found a cause-effect relationship between Parkinson's and platelet distribution width. In their study, published Jan. 25, 2023, in Cell Genomics, the scientists observed the genetic overlap between common NPDs and 29 BCTs, including functional genes, regulatory elements and new genetic correlations linked to hematological data and for these diseases.
Los Angeles is one of the most diverse cities in the U.S. This diversity is evident at University of California, Los Angeles (UCLA), a university that attracts students (37,000) and workers (22,090) from 118 countries. It is enough to go for a walk on campus or its surroundings to believe that one is at a United Nations convention. Researchers at the UCLA ATLAS Community Health Initiative has been capturing that diversity in a genomic biobank whose data will help to understand, anonymously, the genetic basis of certain diseases. With them, scientists will be able to design the best treatments for these patients.
X-chromosome inactivation (XCI) is not unique to female cells and may confer some survival advantage to male cancer cells, according to scientists at the Dana-Farber Cancer Institute at Harvard. The noncoding RNA XIST (acronym for X-inactive specific transcript), which in female mammals (of genotype XX) inactivates one of the X chromosomes, preventing the overexpression of the genes of the repeated chromosome from early stages of embryonic development, also acts somatically in some male cancers, compensating for the loss of the entire chromosome.
“We found that a small percentage of male cancers are expressing XIST, which normally is expressed in female cancers. And the percentage of male cancers that express XIST is variable depending on the cancer type,” Srinivas Viswanathan, researcher in the Department of Medical Oncology at the Dana-Farber Cancer Institute at Harvard and assistant professor of Medicine at Harvard Medical School, told BioWorld.
In the largest study to date for Crohn's disease, researchers from the Wellcome Sanger Institute and the Broad Institute of MIT and Harvard identified rare variants of 10 genes associated with this pathology. The researchers sequenced the exomes of 110,000 people, 30,000 patients with Crohn's and 80,000 without this condition, with the participation of a hundred international scientific institutions.
There is a project management joke that the first 90% of a project takes 90% of the time, whereas the last 10% of the project takes the other 90% of the time.
An international collaboration led by scientists at The University of South Australia, SA Pathology in Adelaide, and the de Duve Institute, University of Louvain, Belgium, has discovered biallelic MDFIC pathogenic variants underlying the severe lymphatic disorder, central conducting lymphatic anomaly (CCLA), in seven people from six separate families.
Fabric Genomics Inc.’s Gem artificial intelligence algorithm plus whole genome and whole exome data detected more than 90% of disease-causing variants in infants with rare diseases, a study in Genome Medicine demonstrated. The full process from blood sample to shortlist of causative variants and likely diseases takes just a matter of hours and the time to interpret whole genomes is condensed to about 15 minutes.
The most comprehensive international collaborative analysis to date of the impact of variants on gene expression has revealed thousands of previously unknown regulatory genomic regions controlling disease-linked genes, representing a major advance in genomics-driven precision medicine.
Data on the prevalence of diabetes in the U.S. show that non-Hispanic white people are least likely to suffer from the disease. Yet to date most genetic studies of the glycemic traits that are used to diagnose and monitor type 2 diabetes and cardiometabolic health have focused on individuals of European ancestry.
Data on the prevalence of diabetes in the U.S. show that non-Hispanic white people are least likely to suffer from the disease. Yet to date most genetic studies of the glycemic traits that are used to diagnose and monitor type 2 diabetes and cardiometabolic health have focused on individuals of European ancestry.
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