Genetics

Using gene editing in a preclinical model, researchers at UT Southwestern Medical Center blocked the symptoms of a rare smooth muscle disease before they developed. Their findings, published in Circulation, could eventually lead to gene therapies for this and other genetic diseases affecting smooth muscle cells.

Researchers from Children’s Hospital of Philadelphia (CHOP) have identified a novel gene associated with neurodevelopmental disorders and epilepsy. The study, published in the American Journal of Human Genetics, leveraged large data depositories, state-of-the-art computational techniques and community-based gene matching to identify this new gene, which is a critical early step in improving diagnosis and eventually developing new treatment methods.

“Biological stochasticity”—random events at the molecular and cellular level—might be one of the biggest, most overlooked drivers of differences in how we age, says Ryo Sanabria.

Scientists at the USC Leonard Davis School of Gerontology have discovered a key connection between high levels of iron in the brain and increased cell damage in people who have both Down syndrome and Alzheimer’s disease.

Systemic sclerosis (SSc) is a severe autoimmune disease with complex genetic causes. Some genetic contributors have been identified, but others remain unknown, which has impeded development of targeted treatments. In a new study published in Annals of the Rheumatic Diseases, researchers at Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein changes and their associated mechanisms in SSc.

A research team has identified genetic factors that influence the shape of subcortical brain regions—far beyond volume measurements. The results could open up new approaches for the early detection of neurological and mental disorders.

A gene transfer approach to treating the bleeding disorder hemophilia B remains safe and effective long-term, as scientists from St. Jude Children’s Research Hospital and University College London today report thirteen years of follow-up data. Hemophilia B is a rare genetic disorder caused by insufficient levels of a circulating protein called factor IX, which promotes blood clotting.

When someone has high blood pressure, or hypertension, it results in changes to the walls of their blood vessels. This process is known as arterial or vascular remodeling, which is driven by smooth muscle cells in the blood vessel wall. Researchers at Michigan Medicine have uncovered a key mechanism that regulates blood pressure and vascular remodeling—increasing downstream risk of heart attack and stroke—in people with a genetic variant linked to high blood pressure, a study in both animals and human samples suggests.

Blood clots can form in both arteries and veins. However, the reasons behind them differ, as do the consequences and the chances of preventing blood clots. In Sweden, almost half of all cases of venous thrombosis have a genetic explanation. A team of researchers from Lund University in Sweden has now discovered three gene variants that increase the risk of blood clots in the leg by up to 180%.

UT Southwestern Medical Center scientists have identified a protein that appears to act as a master control switch for reactive gliosis, a prominent feature of many neurodegenerative diseases that is thought to contribute to their pathology. The researchers’ findings, published in Neuron, could eventually lead to new treatments for Alzheimer’s, Parkinson’s, and Huntington’s diseases and other neurodegenerative conditions.