Genetics

Gene therapy, a technique that is revolutionizing the treatment of multiple genetic conditions, including eye and muscle diseases and blood disorders, requires efficient and specific delivery of the genetic material to the tissue and cell type of interest.

In mice, autism symptoms arise when a certain pair of competing nerve proteins falls out of equilibrium, according to a study published in the open-access journal PLOS Biology by Dongdong Zhao of Wenzhou Medical University, China, Yun-wu Zhang of Xiamen University, China, and colleagues.

Researchers from Tel Aviv University have developed an innovative method that can help to understand better how cells behave in changing biological environments, such as those found within a cancerous tumor.

An R75W mutation in the gap junction β2 (GJB2) gene causes severe fragmentation of gap junction plaques, connecting adjacent cells and leading to syndromic hearing loss. In a new experimental study, scientists from Juntendo University in collaboration with researchers from the University of Tokyo have developed an adeno-associated virus (AAV) vector-mediated genome editing approach to repair the R75W mutation.

In a manuscript published in the American Journal of Psychiatry titled “Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals,” the authors provide updated guidelines on what mental health professionals should know about the latest advances in genetics and how genetics can inform clinical psychiatric practice.

Researchers at the Center for Embryology and Healthy Development (CRESCO) aim to find out why so many early embryos fail in their development. New insights into how maternal and paternal DNA is replicated during the initial stages of pregnancy are contributing pieces to the puzzle.

On March 23, direct-to-consumer genetic testing company 23andMe announced it had filed for bankruptcy. The move came after the company, which generated genetic profiles based on saliva samples from customers, faced financial woes and a data breach in recent years.

In vertebrate retinas, specialized photoreceptors responsible for color vision (cone cells) arrange themselves in patterns known as the “cone mosaic.” Researchers at the Okinawa Institute of Science and Technology (OIST) have discovered that a protein called Dscamb acts as a “self-avoidance enforcer” for color-detecting cells in the retinas of zebrafish, ensuring they maintain perfect spacing for optimal vision.

Scientists at deCODE genetics/Amgen have identified associations between bipolar disorder and rare loss-of-function variants in two genes.

Affecting 1 in 500 people, hypertrophic cardiomyopathy is a condition in which the walls of the left ventricle, the heart’s main pumping chamber, become abnormally thick. “HCM is one of the primary causes of sudden death among young, apparently healthy patients; it is also a frequent cause of heart failure requiring surgery or a transplant,” says Dr. Rafik Tadros, a cardiologist and associate professor in Université de Montréal’s Faculty of Medicine.