New genetic risk factor for developing autism spectrum disorder identified


A new systematic analysis has been applied to a cohort of 2,300 families who have a single child affected with autism. The study focused on identifying and characterizing low-lying genetic mutations that may have been missed in previous research, given these mutations are only present in a fraction of the bulk DNA of an individual.

First look at potentially deadly metabolic disorder that strikes infants


You may have never heard of congenital disorder of glycosylation, but parents whose children are born with forms of this rare — and underreported — metabolic disorder know all too well the dangers they pose, including developmental delay, failure to thrive, stroke-like symptoms, seizures and cerebellar dysfunction.

Panic disorder symptoms may be tied to acid-sensing receptor


A pilot study — the first to evaluate the TDAG8 expression in patients with panic disorder — reveals significantly increased levels in patients with panic disorder, relative to their healthy control subjects. Researchers found an association with TDAG8 and symptom severity, and observed a relationship between TDAG8 and treatment response in patients who had been treated with antidepressants.

Mechanism identified for resilience in people with high risk of bipolar disorder


A brain mechanism has been identified in siblings of bipolar patients that makes them resilient to bipolar disorder. The results suggest that the brain is able to adapt to the biological risk for bipolar disorder and open new avenues in pursuing further research to enhance resilience in those at risk and currently affected.

Drug trial shows promise for deadly neurological disorder


Results of a small clinical trial show promise for treating a rare neurodegenerative condition that typically kills those afflicted before they reach age 20. The disease, called Niemann-Pick type C (NPC), causes cholesterol to build up in neurons, leading to a gradual loss of brain function. In the drug trial, researchers have shown that treatment with a type of sugar molecule called cyclodextrin slows progression of the disease.

Novel stem cell-derived model created of inflammatory neurological disorder


An international team of scientists, has created a human stem cell-based model of a rare, but devastating, inherited neurological autoimmune condition called Aicardi-Goutieres Syndrome (AGS). In doing so, the team was able to identify unusual and surprising underlying genetic mechanisms that drive AGS and test strategies to inhibit the condition using existing drugs.