A recent paper has identified the enhancer ETS2, located in a so-called gene desert, as a contributor to five separate immune disorders. It also showed that one of ETS2’s target genes mediating this inflammation was the eminently druggable MEK, a kinase that is the target of the FDA-approved inhibitors Mekinist (trametinib, GSK plc), Mektovi (binimetinib, Array Biopharma Inc.), Cotellic (cobimetinib, Roche Holding AG) and Koselugo (selumetinib, Astrazeneca plc/Merck & Co. Inc.).
Primary open-angle glaucoma is the leading cause of blindness globally. Individuals of African ancestry have a disproportionately high risk of developing glaucoma, but genetic risk factors have been studied mainly in populations of European ancestry.
The largest genetic analysis of abdominal aortic aneurysm (AAA) carried out to date has identified almost 100 new risk variants linked to the disorder. The study also highlighted a possible therapeutic target for this pathology that, at the moment, has no treatment. AAA affects 4% of people over 65 years of age in the U.S. and causes 41,000 deaths per year. The incidence is three to four times higher in men than in women.
A large-scale genetic study found 26 risk loci for epilepsy, a chronic brain disease with multiple forms, not all of them heritable. The work, by more than 300 authors from the International League Against Epilepsy (ILAE), investigated seven different subtypes of this neurological condition. “There are over 100 genes that we know can harbor mutations that cause epilepsy,” the co-corresponding author Gianpiero Cavalleri told BioWorld. These genes have rare forms that cause that epilepsy. However, “this particular GWAS is focused more on common forms of epilepsy,” he said.
By using machine learning techniques to scour electronic health records, researchers have identified individuals who were likely to have binge eating disorder (BED) but had not received a formal diagnosis. Genomewide association studies including such patients enabled the investigators to identify several risk variants that were correlated with BED irrespective of body mass index (BMI), which covaries with BED and is a potential confounding factor.
A study of the genetic determinants of HIV viral load in 3,879 people of African ancestries has found what is claimed to be the only new variant related to HIV infection discovered in more than two decades of research into how host genomics affects the response to the retrovirus.
The most in-depth study to date of the genetic risk factors for long COVID has identified 73 genes that are highly associated with severe or fatigue-dominant forms of the disease. Many of these genes also are known to be associated with other disorders, including myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) and neurodegenerative, autoimmune, cardiovascular and metabolic diseases.
Multiple sclerosis (MS) is and remains “a problem in the immune system” Stephen Sawcer told BioWorld. As in other autoimmune diseases, a faulty immune system attacks otherwise healthy tissues that it should be leaving alone. In the case of MS, the tissue in question is oligodendrocytes. And a study published online in Nature on June 28, 2023, suggests that while MS’ beginnings are autoimmune, the path it takes in an individual patient is determined in part by how well the brain can cope with the autoimmune attack.
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.
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