Etiqueta: #MedicalExpress

Fragile X syndrome (FXS) is an inherited genetic developmental condition that strongly impacts brain development. Despite the syndrome stemming from an altered genetic code for the single protein fragile X messenger ribonucleoprotein (FMRP), its sympto…

A novel strategy that combines computational and experimental approaches has allowed researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital to distinguish alterations in gene f…

A study conducted in an Indian population has identified new molecular pathways that contribute to cardiovascular disease, which had not been reported previously in studies of Europeans. Dharambir Sanghera of the University of Oklahoma Health Sciences …

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…