Categoría: Noticias

Cancer is caused by faulty genes, but what also shapes a cancer cell’s behavior is how a gene’s instructions are trimmed and rearranged before they are turned into the proteins that keep a cell alive. A study published in Nature Communications reveals …

New research assessing the efficacy of optical genome mapping (OGM) in a group of patients with acute leukemia has demonstrated that OGM provided reliable and robust analytical performance with high sensitivity and specificity in detecting genetic alte…

Genetic testing can play an important role in identifying patients at risk for malignant hyperthermia (MH), guided by answering three simple screening questions, according to an article published online March 10 in Anesthesiology.

Neurodegenerative diseases affect more than 57 million people globally. The incidence of these diseases, from Alzheimer’s to Parkinson’s to ALS and beyond, is expected to double every 20 years. Though scientists know aging is a major risk factor for ne…

A closer examination of the APOL1 gene in Black patients with kidney disease can provide more accurate diagnoses than current protocols, a new study from researchers at Columbia University Vagelos College of Physicians and Surgeons has found. Accurate …

A woman’s suicide risk may be influenced by the suicidal intention of her female first degree relatives, with sex-specific effects of a shared familial environment and possibly other social factors having a key role, finds a large population study publ…

A gene called FOXJ1 may drive resistance to taxane chemotherapy during treatment for advanced prostate cancer, according to a new study led by investigators at Weill Cornell Medicine and Beth Israel Deaconess Medical Center. The findings provide import…

Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an emerging approach that reads large sections of the genome …

Aging is associated with increased risk for nearly every lung disease, including acute conditions like pneumonia and chronic diseases like chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, and lung cancer. Now, one of the most compr…

About 40% of East Asians suffer from alcohol intolerance, known as «Asian Flush Syndrome,» caused by an ALDH2 genetic mutation. Beyond facial flushing, this mutation carries serious cardiovascular risks. Carriers experience more severe heart damage dur…