Autor: Clinical genetics

A new study from Karolinska Institutet shows that gene analysis of breast cancer tumors can identify patients who do not benefit from chemotherapy given before surgery. The findings, published in the journal Nature Communications, could in the long ter…

Most fat stores energy; the body’s brown fat does the opposite. Unlike the white fat that accumulates just under our skin, brown fat burns calories and glucose to generate heat. Formally known as brown adipose tissue, it is a specialized metabolic tiss…

It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome.

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It arises from mutations in the SYNGAP1 gene, which produces a protein essential …

Researchers at McMaster University have identified, for the first time, a novel region of DNA and two associated genes connected to frailty, offering neurological and immune-related insights that might help explain why some older adults are more likely…

Sox9, a master regulator of cartilage formation, switches its target genes dynamically during embryonic limb development instead of following a fixed program, as reported by researchers from Science Tokyo. They analyzed mouse embryonic forelimb cells a…

As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children’s Hospital, published in Cell, finds that the brain’s resident immune cells, microglia, amass mutations in specific cancer-driving gen…

For patients with advanced solid tumors harboring specific genetic alterations, the first-in-class synthetic lethal combination of WEE1 inhibitor zedoresertib plus PKMYT1 inhibitor lunresertib demonstrated promising antitumor activity and was generally…

Patients with a specific type of bowel cancer who were treated with a short course of immunotherapy before surgery instead of post-op chemotherapy have remained cancer-free after almost three years of follow-up, according to new results from the NEOPRI…

Researchers from the Keck School of Medicine of USC have made an important advance toward understanding—and potentially treating—a rare cardiomyopathy (heart muscle disease) that is present from birth. The condition, known as AARS2-related cardiomyopat…