Posts Tagged ‘genetics’

Largest-Ever Genetic Study of Autism Yields New Insights

Anyone who’s spent time with people affected by autism spectrum disorder (ASD) can tell you that it’s a very complex puzzle. The wide variability seen among individuals with this group of developmental brain disorders, which can disrupt communication, behavior control, and social skills, has...

Genome Testing for Siblings of Individuals May Aid in a Diagnosis Before Symptoms Appear

One of the key priorities of interventions for autism spectrum disorder (ASD) is starting early, with some evidence showing infants as young as seven months old could benefit. Yet, most children in North America aren’t diagnosed with ASD until they’re over four years of age. New research led by...

“Give a Spit” to Help Scientists Uncover the “Female Protective Effect” for Autism

For years, we’ve known that four times as many boys as girls are diagnosed with autism. More recently, genetic research has surprisingly shown that the various genes that cause autism are equally distributed in boys and girls. So what explains this difference - why do some girls who have the...

“CRISPR” Way to Cut Genes Speeds Advances in Autism

Less than three years ago, two landmark publications in Science gave researchers a quick and easy recipe for tinkering with genes.1,2 The papers described a new tool — a modified enzyme called CRISPR-CAS9 — that allows researchers to reach into the genome and snip, or substitute, DNA sequences...

Growth Hormone Treatment Improves Social Impairments in Patients with Genetic Disorder Known to Cause Autism

A growth hormone can significantly improve the social impairment associated with autism spectrum disorder (ASD) in patients with a related genetic syndrome, according to a pilot study conducted at the Icahn School of Medicine at Mount Sinai and published today on Pub Med, a public database of...

Evaluating the Ability of Learners with Autism to Work in Small Groups

Learners with autism do well with one on one instruction, and this is widely known. However, the provision of one-to-one instruction on a long-term basis is not efficient or realistic. Funding streams, particularly in adulthood, do not support this level of staffing. Furthermore, the ability to...

Changes in Scores of Genes Contribute to Autism Risk

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium (ASC), and published today in the journal Nature. The new study examined data on several types of rare, genetic differences in...

The Future of Autism Genetics Should Learn From Its Past

Last month in November of 2014, my colleagues and I published two large studies that sequenced the genes or exomes of thousands of families with a history of autism1,2. These studies identified several dozen “high-confidence” autism genes that show spontaneous, harmful mutations in multiple...

Autism and Science: A View from Across the Neural Divide

I am writing this because I am in the somewhat unusual position of not only being on the autism spectrum and fairly involved in the autism community, but also of coming from a scientific background, even if not in the field of autism (I am a retired electronics engineer with degrees in physics,...

Studies Map Gene Expression Across Brain Development

Now that genetic studies have implicated several hundred genes in autism, researchers are turning their attention to where and when in the healthy young brain these genes are expressed. The first two studies to tackle these questions appeared on November 21, 2013 in Cell. One report, led by...