Autor: Clinical genetics

Researchers have solved a long-standing mystery of how abnormal chromosomes drive cancer, identifying 81 new genes involved in aggressive breast cancer. The discovery expands understanding of the cellular processes behind the disease and opens new aven…

A new study describes a gene therapy strategy that uses the brain’s own glymphatic transport system to distribute engineered viral vectors throughout the brain. The approach addresses two major challenges in neurological medicine—reaching therapeutic t…

New research presented at the Federation of European Neuroscience Societies (FENS) Forum 2026 has discovered some of the genetic changes in brain cells that may help explain why more men than women develop Parkinson’s disease.

Researchers have validated a genetic scoring tool that may help physicians diagnose idiopathic pulmonary fibrosis and identify which patients are at greatest risk for severe outcomes, including death or the need for a lung transplant. The findings come…

Researchers at The University of Texas MD Anderson Cancer Center have identified why some patients with a rare type of leukemia, called blastic plasmacytoid dendritic cell neoplasm (BPDCN), eventually develop resistance to tagraxofusp, the first Food a…

A study led by the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with an international research team, has identified a new molecular mechanism involved in hypertrophic cardiomyopathy, the most common in…

A study led by the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with an international research team, has identified a new molecular mechanism involved in hypertrophic cardiomyopathy, the most common in…

In 2013, Angelina Jolie inspired a wave of testing for pathogenic variants of the gene BRCA1 by announcing that she carried a variant that left her at such high risk of breast cancer that she chose a preventive mastectomy. Many people with similar gene…

In 2013, Angelina Jolie inspired a wave of testing for pathogenic variants of the gene BRCA1 by announcing that she carried a variant that left her at such high risk of breast cancer that she chose a preventive mastectomy. Many people with similar gene…

Two people may be the same age and have similar family histories or risk factors, yet only one of them may develop thrombosis. To better understand why this occurs, researchers from the Complex Disease Genomics Unit at the Sant Pau Research Institute (…