The recent identification of new genetic variants associated with autism brings to the forefront important considerations when using genetics as a tool for detection of this complex disorder.
“Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder”—which was funded by Kids Brain Health Network and published in Nature Neuroscience—is the largest whole genome study of autism to date. The findings have implications for children and families as they represent another step towards the development of a genetic diagnostic for ASD.
Dr. Joanne Weinberg is a 2017 recipient of the Starfish Award acknowledging the great impact of her research on the lives of individuals with FASD.
Conferring of the Starfish Award is a traditional high point at the close of the International Conference on Fetal Alcohol Spectrum Disorders, which meets every two years in Vancouver B.C. This year was the seventh biennial gathering, and drew, as in past years, more than 700 participants, including representatives of provincial governments and the justice system, researchers, health and mental health professionals, and families and individuals with FASD.
The study of epigenetic mechanisms is fast on its way to becoming an important method for understanding and potentially diagnosing fetal alcohol spectrum disorder (FASD).
"Epigenetics studies of fetal alcohol spectrum disorder," a recent review published in Future Medicine by a team of Kids Brain Health Network researchers found that several epigenetic mechanisms are affected by alcohol, which could explain many of the neurobiological deficits and abnormalities associated with prenatal alcohol exposure.
Until very recently, no one has been able to accurately predict autism in babies under a year of age.
That picture has begun to change, as discoveries arising from genetics, nuanced parental observation and neuroimaging are all pointing in the same direction: the capacity to identify autism spectrum disorder in children before overt symptoms – such as loss of, or delays in speech and lack of eye contact – begin to show around the age of two.