In a landmark study, an international consortium led by researchers at Children's Hospital of Philadelphia (CHOP) published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) for the treatment of sickle cell disease in patients 12 years and older with recurrent vaso-occlusive crises (VOCs ..read more

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The team developed a machine learning system called AI-MARRVEL (AIM) to help prioritize potentially causative variants for Mendelian disorders. The study is published in NEJM AI ..read more

A new UCLA Health study has found that certain genetic variants could help explain how long-term pesticide exposure could increase the risk of Parkinson's disease ..read more

The COVID-19 pandemic turned the world upside down. In fighting it, one of our most important weapons was genomic surveillance, based on whole genome sequencing, which collects all the genetic data of a given microorganism. This powerful technology tracked the spread and evolution of the virus, helping to guide public health responses and the development of vaccines and treatments ..read more

Long non-coding ribonucleic acids (lncRNAs), despite not coding for any protein, can play a significant role in cancer formation, progression, and treatment outcomes. One such lncRNA of interest is MALAT1, abbreviated for metastasis-associated lung adenocarcinoma transcript 1 ..read more

Survivors of childhood cancer are at increased risk for cardiovascular disease, for which a risk factor is their greater prevalence of type 2 diabetes, with a disproportionate impact on those of non-European heritage. St. Jude Children's Research Hospital scientists have identified four previously unknown genetic variants associated with diabetes risk in all survivors ..read more

Breast cancer is the second-most common cancer diagnosis for U.S. women, and the second-leading cause of female cancer deaths. In recent years, breast cancer treatments have improved significantly, thanks to targeted gene therapy and immunotherapy. However, for the small group of patients diagnosed with the most aggressive basal-like type of breast cancer, such approaches are less successful ..read more

Pick's disease, a neurodegenerative disease of unknown genetic origin, is a rare type of frontotemporal dementia that affects people under the age of 65. The condition causes changes in personality, behavior and sometimes language impairment ..read more

When pathogens invade the body, the immune system must react immediately to prevent or contain an infection. But how do our defense cells stay ready when no attacker is in sight ..read more

A study, published in Nature Communications, sheds light on a newly identified subtype of muscular dystrophy, revealing an unsuspected role of SNUPN gene in muscle cell function ..read more