Gene ties trust hormone to Williams syndrome and autism
Studying the relatively well-defined genetics of Williams syndrome may help unravel the poorly understood genetic and neurobiological roots of autism, researchers say.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Studying the relatively well-defined genetics of Williams syndrome may help unravel the poorly understood genetic and neurobiological roots of autism, researchers say.
Several new genetic variants associated with schizophrenia lie in regions important for immune function and associated with autism. This suggests that both disorders stem partly from abnormal activation of the immune system, say some researchers.
The brains of people with autism have structural abnormalities that disrupt normal connections between brain regions and impede the flow of information across the brain. That’s the conclusion of a 20-year-old theory supported by several new studies.
A common variant of a gene called CACNA1G — which makes a channel that helps regulate calcium flow between cells — may increase the risk of developing autism, according to research published in Molecular Psychiatry.
The molecular defects that cause some cases of autism may arise during the development of neuronal stem cells, according to a new theory bolstered by several independent animal and human studies.
Applying an emerging technique that combines genetic data and brain scans, researchers have identified two new genes involved in schizophrenia. The method, called ‘imaging genetics’, holds promise for linking genes to brain function in complex psychiatric disorders, including autism.
The answer to a long-standing mystery in visual neuroscience may also help explain how people with autism perceive faces, according to a study published in March in the Proceedings of the National Academy of Sciences.
The characteristic inability of a person with autism to respond to emotions may stem from sustained arousal in the amygdala, the brain region needed to interpret emotions from facial expressions.
In the spring of 2002, as a new graduate student at the University of Washington, Raphael Bernier was charged with introducing his advisor, Geraldine Dawson, before her lecture to a room of about 40 people from the psychology department. To Dawson’s astonishment, Bernier sang his introduction to the tune of On Top of Old Smokey. “[It was] a pretty gutsy thing for a first-year student to do,” Dawson says.
In the late 1990s, after Daniel Geschwind had established himself as an expert on the genetics of neurological diseases, a personal connection abruptly pulled him into autism research. Since then, he has participated in dozens of studies probing the genetic basis of autism and related neuro-developmental disorders.