Feature Channels: Genetics

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Researchers at WashU Medicine collaborated with an international team of doctors and scientists to identify the cause of a rare disorder involving intellectual disability and brain malformations. The team found a link between the child’s neurological symptoms and a genetic change that affects how proteins are properly folded within cells, providing the parents with a molecular diagnosis and identifying an entirely new type of genetic disorder. The findings are published in Science.

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Researchers at the Institute for Genome Sciences (IGS) at the University of Maryland School of Medicine (UMSOM) have developed a broad and deep genomic database of Latin Americans which gathers genome-wide data of Latin American populations into a single source and allows other scientists to easily add that population to their own research studies without straining budgets.

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A research team exploring how genes and environmental factors interact in psychiatry has discovered that a history of sexual trauma and a genetic tendency to develop mental illness are associated with increased risk for schizophrenia, bipolar disorder and major depression.

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A new analysis led by researchers at Washington University School of Medicine in St. Louis has revealed detailed 3D maps of the internal structures of multiple tumor types. These cancer atlases reveal how different tumor cells — and the cells of a tumor’s surrounding environment — are organized, in 3D, and how that organization changes when a tumor spreads to other organs. The detailed findings offer scientists valuable blueprints of tumors that could lead to new approaches to therapy and spark a new era in the field of cancer biology, according to the researchers.

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A research team has established a Virus-Induced Gene Silencing (VIGS) system in taro, enabling researchers to rapidly verify gene functions in this underutilized crop.

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A research team investigated whole chloroplast genomes and nuclear gene sequences from 14 species, uncovering new insights into the genetic diversity and hybrid origins of mango species.

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The Roswell Park team has developed a new method to measure mutation loads across species, revealing the role of the "dark genome" — ancient, virus-like genes that affect cellular function. The findings support further exploration of antiviral drugs as potential tools to target the dark genome in controlling cancer.

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RIPE researchers found that modern soybean plants have increased mesophyll conductance compared to ancestral soybean plants. Their work was recently published in Plant, Cell and Environment.

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A research team at Iowa State University has found that zinc supplements may be an inexpensive, effective antidote to the growing health threat of antimicrobial resistance, potentially extending the effectiveness of today’s antibiotic arsenal against disease.

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New research from University of Utah Health has identified a promising target for new antimalarial drugs: a protein called DMT1, which allows single-celled malaria parasites to use iron. Preventing DMT1 activity causes parasites to die unusually quickly.

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It acts as a sort of molecular fumigator to battle phages and plasmids.

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UC San Diego has received a five-year, $8 Million grant to support a NIDA P30 Center to investigate the genetics, genomics, and epigenetics behind substance use disorders.

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Among 88,183 U.S. high school students, marijuana use declined from 23.1% in 2011 to 15.8% in 2021, with first-time use before age 13 dropping from 8.1% to 4.9%. In 2021, use was highest among 12th graders (22.4%) and 11th graders (18.7%). Notably, girls (17.8%) surpassed boys (13.6%) in reported use in 2021, reversing past trends. While Asian, Hispanic, and white adolescents saw declines, Black adolescents had a higher usage rate of 20.5% in 2021, indicating ongoing racial disparities.

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A new international trial is investigating the efficacy and safety of gene therapy in patients with Hurler syndrome and will compare results of gene therapy against BMT which is the current standard of care. UCSF Benioff Children’s Hospitals are among three sites in the U.S. and seven in the world now enrolling patients for the clinical trial.

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Researchers at UCLA Health have found that a person's risk of developing psychotic-like experiences may be influenced by both childhood attention problems and their genetic makeup.

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Dr. Roy-Chaudhury will head up an organization—with nearly 21,000 health professionals representing 140 countries—dedicated to leading the fight against kidney diseases.

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For kidney transplant recipients experiencing antibody-mediated rejection, the current standard of care involves removing donor-specific antibodies (DSAs) through plasmapheresis (PLEX)—a procedure that removes antibodies from the plasma portion of the blood. Results from a recent clinical trial reveal that an investigational drug called imlifidase, which cleaves and inactivates the type of antibodies that include DSAs, is more effective than PLEX. The research will be presented at ASN Kidney Week 2024 October 23–27.

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Glucagon-like peptide-1-receptor agonists (GLP-1RA) are medications that are increasingly prescribed for patients with type 2 diabetes and congestive heart failure. Reports of GLP-1RA–associated acute kidney injury (AKI) have emerged, but the risk of GLP-1RA–associated AKI among patients on anti-cancer drugs is unclear. Surprisingly, new research suggests that taking GLP-1RA is not associated with an increased risk of AKI in patients receiving anti-cancer therapies. The findings will be presented at ASN Kidney Week 2024 October 23– 27.

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Prior efforts to identify novel kidney biomarkers as risk factors for chronic kidney disease (CKD) progression have typically evaluated proteins individually, which limits their prognostic power. The National Institute of Diabetes and Digestive and Kidney Diseases’ (NIDDK’s) CKD Biomarkers Consortium of investigators recently developed and tested novel dimensions of kidney health by combining a set of 17 urine and plasma biomarkers that had been individually associated with CKD progression. The research will be presented at ASN Kidney Week 2024 October 23– 27.

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A recent analysis reveals that the number of chronic kidney disease (CKD) cases in women around the globe nearly tripled in the past three decades. Also, type 2 diabetes and hypertension were the leading causes of CKD-related deaths in women. The research will be presented at ASN Kidney Week 2024 October 23– 27.