Autor: Clinical genetics

A new study led by NYU Langone Health researchers has found that cancer cells are better able to resist treatments when they have an abnormal number of chromosomes, the DNA strands wound up in bundles that control which genetic instructions are followe…

Hundreds of thousands of people diagnosed with cancer are still alive today but were never genetically tested, either because testing was not available or was not routinely offered at the time of their diagnosis. These patients are just as likely as th…

A major international study led by Flinders University has identified a genetic contributor to juvenile glaucoma. Published today in the journal JAMA Ophthalmology, the study marks another important step toward treating multiple forms of glaucoma with …

Researchers at the Johns Hopkins Kimmel Cancer Center and the Telomere Clinic at Johns Hopkins have identified a genetic syndrome in which unusually long telomeres—the protective caps at the ends of chromosomes—allow immune cells to remain biologically…

Ahead of World Lupus Day on May 10, new research from the Garvan Institute of Medical Research and UNSW Sydney helps explain why women are significantly more likely to be diagnosed with an autoimmune disease—a condition where the immune system misfires…

It’s a fundamental principle of science: Correlation does not equal causation. Every cancer cell has genetic mutations, but not all of those mutations necessarily drive the cancer.

Involving a collaboration with 118 investigators contributing from 89 institutions, scientists from Queen Mary University of London’s Precision Healthcare University Research Institute and Berlin Institute of Health (BIH) at Charité have led the world’…

An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only exhibit milder psychiatric f…

Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum disorder (ASD), the neurodevelopmental disease characterized by impaired communication, abnormal social interactions, and rest…