Genetics

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into adulthood only with bone marrow transplantation and regular cancer screening.

Considered to be one of the greatest revolutions in cancer treatment, immunotherapy enhances the immune system’s ability to target and destroy cancer cells efficiently. One of the key challenges in immunotherapy is the uncertainty regarding patients’ responses—not all patients respond to the treatment, and some may experience side effects without meaningful therapeutic gain. Therefore, there is a need to identify biomarkers that can predict treatment effectiveness based on individual patient data.

Screening for common genetic variants in addition to rare genetic variants can help improve patient risk stratification for heart failure, according to a recent study published in Nature Genetics led by investigators at Northwestern University Feinberg School of Medicine and the Perelman School of Medicine at the University of Pennsylvania.

Pre-eclampsia is a danger to pregnant women. It’s a complication characterized by high blood pressure and organ damage, arising during the second half of pregnancy, in labor or in the first week after delivery.

An investigational gene therapy has successfully restored immune function in all nine children treated with the rare and life-threatening immune disorder called severe leukocyte adhesion deficiency-I, or LAD-I, in an international clinical trial co-led by UCLA.

In recent years, there has been a growing trend of an aging patient population and an increasing prevalence of age-associated diseases, underscoring the need for advancing research into the biological mechanisms of aging. Of particular scientific interest are hematopoietic stem cells (HSCs), which undergo profound age-related phenotypic and functional transformations.

Some proteins in human cells that are implicated in cancer also have causal roles in neurodevelopmental disorders, raising the possibility of repurposing targeted cancer therapies to help address neurodevelopmental diseases.

To understand what drives disease progression in tissues, scientists need more than just a snapshot of cells in isolation—they need to see where the cells are, how they interact, and how that spatial organization shifts across disease states. A computational method called MESA (Multiomics and Ecological Spatial Analysis), detailed in a study published in Nature Genetics, is helping researchers study diseased tissues in more meaningful ways.

An Israeli study has identified TRIM63 as a significant genetic contributor to hypertrophic cardiomyopathy (HCM)—the most common hereditary heart disease worldwide. The findings, published in Circulation: Genomic and Precision Medicine, could transform genetic screening and treatment protocols for HCM patients around the globe.

Scientists from The Hospital for Sick Children (SickKids) and the University of Las Vegas, Nevada (UNLV) have uncovered a genetic link between autism spectrum disorder (ASD) and a rare genetic condition called myotonic dystrophy type 1 (DM1).