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Clinical genetics news

New gene-editing approach shows promise in treating Huntington's disease in mice

Huntington's disease is caused by repetitive "stutters" in DNA—specifically repeated CAG sequences—that expand abnormally over time, leading to toxic protein accumulation that contributes to the progression of the disease. ...

Liver tumors form without detectable driver mutations in mice, revealing epigenetic route

Cancers can develop through epigenetic pathways even without driver gene mutations (DGMs), according to a study from Science Tokyo. Researchers uncovered the YAP1–TEAD–TET1 axis, which triggers DNA demethylation and activates ...

Comprehensive DNA sequencing reveals hidden drivers of cancer

Michigan's Oncology Sequencing Program, or MiOncoSeq, was the first of its kind in the nation to sequence patient tumors. Launched in 2010, the program analyzes DNA and RNA from normal tissue and tumors to identify alterations ...

Personalized medicine breakthrough for childhood leukemia

Researchers from Newcastle University and Great Ormond Street Hospital have identified new predictors of relapse in children and young people with acute lymphoblastic leukemia (ALL) treated with the immunotherapy drug blinatumomab, ...

Gene variants that can cause sudden death mapped

Using a high-throughput technique, an international collaboration led by Vanderbilt Health researchers has created a "map" of 1,757 genetic variations that can trigger a life-threatening heart rhythm disorder called long ...

Fast-tracked genetic testing helping sick kids

A new genetic testing approach for sick children with immune conditions could slash diagnosis waiting times from 12 months to as little as two weeks, University of Queensland research has found.

AI tool helps identify harmful epilepsy genetic variants

A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood epilepsy will cause disease, ...

Reversing age by reprogramming gene expression networks

Every organ and tissue progressively loses function and integrity as it ages. In fact, researchers have identified "hallmarks of aging" that not only present specific processes impacted by age, but are also thought of as ...