Is autism genetic

Autism genetics expert Ivan Iossifov breaks down recent research that sheds light on how unaffected parents can pass autism onto their child. Parents with no history of A quick Google search for “autism causes” is all it takes to learn that scientists believe the disorder has a strong genetic component. So if there’s no genetic history in the family, where does a child’s autism come from? A key “Every child has some spontaneous mutations,” explains Iossifov. “But in some unlucky children these mutations severely affect the functioning of a particular gene.” A child’s genome is a patchwork stitched together from the genetic “cloth” contained in the mother’s egg and father’s sperm. In theory, that means that children are cut from exactly the same cloth as their parents. But in reality, there are virtually always small “factory defects” in that cloth—mutations that spontaneously arise during the sperm or egg’s creation. Spontaneous mutations cause as much as half of all autism in situations in which only one child in the family has autism. This and other analysis comes from a Professor Michael Wigler explains the genetic factors at play in his “unified theory of autism” As Iossifov says, all of us have such mutations, and usually they have no effect at all. Humans normally have two copies of every gene, even though only one working copy typically necessary for proper functioning. “We have two copies of most genes for a reason—it’s kind of a buffer,” says Iossifov. This buffer...

Autistic children are more likely to have rare variations in genes linked to circadian rhythms and insomnia than are their unaffected siblings, according to a new The findings support a genetic link between sleep, circadian rhythms and autism, says Most children with autism have Previous studies have highlighted a genetic basis for sleep disruption in autism: Mice missing But the new study took a “unique perspective” by focusing on copy number variants (CNVs) — deletions or duplications of large chunks of DNA — says The new work analyzed genetic data from 5,860 autistic children and 2,092 of their unaffected siblings from two genetic repositories, the Simons Simplex Collection (SSC) and MSSNG. (The SSC is funded by the Simons Foundation, Spectrum’s parent organization.) The study also included genetic information from 7,509 teenagers and adults from the general population. Compared with their unaffected siblings and unrelated controls, the children with autism harbored more CNVs in 312 genes that govern the circadian cycle and in 1,053 genes associated with insomnia. Yet only 39 percent of the autistic participants had one or more traits of insomnia, just below the 40 to 80 percent found in previous Translational Psychiatry. “I was baffled they didn’t see an increase in sleep problems in the autism population, even if they had a CNV in a circadian or insomnia gene,” Jongens says. One explanation is that the databases lack the detailed information required to identify sleep...

Key points • Michael Garvin and his colleagues at Oakridge National Laboratory have demonstrated a new way to determine a genetic basis for ASD. • While it's long been accepted that Autism Spectrum Disorder is heritable, no studies have been able to offer a genetic explanation. • The new study looks at how genetic mutations can offer insight into the heritability of ASD. Dr. Michael Garvin I’m always intrigued by the work of writers, filmmakers, and artists whose work, like mine, has been influenced by their siblings with disabilities. Right now, I’m particularly excited about the work of a This month, the journal Human a study by my brother, Michael Garvin , and his colleague, David Kainer—both computational biologists at the Oak Ridge National Laboratory. The paper, “Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of “The heritability of autism spectrum disorder, based on family studies, has been estimated to be between 50 percent and 90 percent” they wrote. “A recent study of more than 2 million individuals and 680,000 families from multiple countries provides a best estimated of 80 percent, yet like many complex diseases, very little of this heritability has been explained by significant genome-wide association study loci despite ever-increasing sample sizes.” Garvin and Kainer looked for genetic markers of autism by considering genomic mutations, also known as structural variants—a new approach to explain A...