Genetics & neurochemistry
Knowledge about the biological origin of diseases like schizophrenia, bipolar disorder and other psychiatric conditions is critical to improving diagnosis and treatment. In an effort to push the field forward, three UCLA researchers, along with scientists from more than 20 countries, have been taking part in one of the largest collaborative efforts in psychiatry — a genome-wide study involving more than 50,000 study participants aimed at identifying which genetic variants make people susceptible to psychiatric disease.
For decades, autism researchers have faced a baffling riddle: how to unravel a disorder that leaves no known physical trace as it develops in the brain. Now a UCLA study is the first to reveal how the disorder makes its mark at the molecular level, resulting in an autistic brain that differs dramatically in structure from a healthy one. Published May 25 in the advance online edition of Nature, the findings provide new insight into how genes and proteins go awry in autism to alter the mind. The discovery also identifies a new line of attack for researchers, who currently face a vast array of potential fronts for tackling the neurological disease and identifying its diverse causes.
Autism Spectrum Disorders and Genetic Testing
Why is genetic testing important in Autism Spectrum Disorders?
The onset of ASD occurs in the first few years of life and affects approximately 1 in 110 children (MMWR Surveill Summ. 2009 Dec 18;58(10): 1-20). Studies have shown that 10-15% of people with an ASD have an abnormal genetic result that explains the cause of their ASD. Early detection and accurate diagnosis are critical because:
Genetic research by Dr. Daniel Geschwind, professor of human genetics and neurology at the David Geffen School of Medicine and a professor at the Semel Institute, on how human and chimp brains developed differently, was cited April 11 in a Philadelphia Inquirer column.
Nelson Freimer, professor of psychiatry and director of UCLA’s center for neurobehavioral genetics, was quoted in the April 3 New York Times about an Alzheimer’s study that discovered five genes offering new clues to why the disease strikes and how it progresses.
For years, the majority of research on reactive oxygen species (ROS) — ions or very small molecules that include free radicals — has focused on how they damage cell structure and their potential link to stroke, cardiovascular disease and other illnesses. However, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have shown for the first time that neural stem cells, the cells that give rise to neurons, maintain high levels of ROS to help regulate normal self-renewal and differentiation. The findings, published in the Jan. 7 issue of the journal Cell Stem Cell, may have significant implications for brain repair and abnormal brain development.
Imagine if your brain lost its working memory — the ability to hold and manipulate information in your mind's eye. That's the plight faced by millions of people with neurofibromatosis type 1, or NF1. The genetic condition affects one in 3,500 people and is the most common cause of learning disabilities. Now a UCLA research team has uncovered new clues about how NF1 disrupts working memory. Published in the July 12 online edition of Proceedings of the National Academy of Sciences, the findings suggest a potential drug target for correcting NF1-related learning disabilities.