Categoría: Genetics

In a study published in Nature Communications, Mayo Clinic researchers have identified specific DNA-level changes in the brains of people with Alzheimer’s disease (AD). Using advanced biological analysis, the team mapped alterations in the brain’s regu…

An autoimmune disorder that affects the thyroid gland, called autoimmune hypothyroidism (AIHT), is the most common autoimmune disease, yet it remains largely understudied. New research from scientists at Broad Institute, University of Helsinki, and oth…

One to two out of every 100 newborn babies are born with a Congenital Heart Defect (CHD), yet the exact cause remains unclear. Human geneticists at the University Medicine Oldenburg (Germany) have now presented a new method for determining whether a NO…

Achondroplasia, also known as short-limb dwarfism, is associated with neurological symptoms and complications due to narrowing of the skeletal structures surrounding the spinal cord. Despite achondroplasia being the most common cause of dwarfism, the m…

Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health traits. By probing regions of DNA previously linked to disease, the work has created high-resolution maps of DNA variant activity…

Variants in a nicotine receptor gene are associated with a lower likelihood of heavy smoking, according to a study published in Nature Communications. The findings are based on data from populations in Mexico and validated in populations with Asian and…

Why do some people feel chills when listening to music, reading poetry, or viewing a powerful work of art, while others do not? New research by Giacomo Bignardi and his colleagues from Max Planck Institute for Psycholinguistics (MPI) published in PLOS …

Researchers have found that a new base-editing gene therapy can help treat a rare neurodevelopmental disorder called Snijders Blok–Campeau syndrome caused by mutations in the CHD3 gene. A specialized gene-editing tool, the TadA-embedded adenine base ed…

Umbilical cord blood transplantation has transformed the treatment options for patients with blood cancers and other life-threatening hematologic disorders, particularly when matched donors are unavailable. While cord blood is known for its ability to …

A single exposure to a toxic fungicide during pregnancy can increase the risk of disease for 20 subsequent generations—with inherited health problems worsening many generations after exposure. Those are the findings of a new Washington State University…