Researchers identify novel genes that may increase risk for schizophrenia

Researchers have identified two previously unknown genes linked to schizophrenia and newly implicated a third gene as carrying risk for both schizophrenia and autism. Led by the Icahn School of Medicine at Mount Sinai, the multi-center study further demonstrated that the schizophrenia risk conferred by these rare damaging variants is conserved across ethnicities. The study may also point to new therapeutics.

Early CTE disease process found to be mechanistically different than what occurs in late stages

Millions of people, including athletes who play contact sports, members of the military and victims of domestic violence, are exposed to repetitive head impacts (RHI), which is the primary risk factor for developing chronic traumatic encephalopathy (CTE). Symptoms of CTE often manifest years to decades after exposure to RHI and very little is known about what happens in the brain in the interim.

Immune cells hold clues to vitamin D absorption, study suggests

Vitamin D plays an integral role in regulating immune function, and Penn State researchers have identified immune cells in mice that can be differentiated by whether or not they have vitamin D receptors—a finding that could lead to a better understanding of the link between vitamin D status and autoimmune diseases such as ulcerative colitis, Crohn’s disease and multiple sclerosis.

Q&A: The preclinical research origin of the first drug to treat Rett syndrome

Rett syndrome is a devastating developmental disorder, principally occurring in girls, caused by mutations in the gene MECP2 that leads to severe cognitive, motor and other symptoms. That’s why the March 12 approval by the U.S. Food and Drug Administration of the first-ever treatment for the disorder, a drug called Trofinetide based on the natural protein IGF-1, brings new hope to patients and their families.

The negative impact of continued exclusion of racial groups from research on cancer genomics

New research in the March 2023 issue of JNCCN—Journal of the National Comprehensive Cancer Network highlights how the lack of genomic research for people with African ancestry, particularly those from the Sub-Saharan region, is hampering efforts to reduce disparities for people with cancer. In a first-of-its-kind study, the researchers evaluated molecular genetic results for 113 Black South African men diagnosed with advanced prostate cancer to find evidence for increased and potentially unique genetic testing recommendations.