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...

Using Gene Editing, Neuroscientists Develop a New Model for Autism

By introducing a gene variant associated with autism into monkeys, researchers hope to study treatment options for severe neurodevelopmental disorders. Using the genome-editing system CRISPR, researchers at MIT and in China have engineered macaque monkeys to express a gene mutation linked to...

Inherited Variations in Noncoding Sections of DNA Associated with Autism

A new study has identified an association between paternally-inherited rare structural variants in noncoding segments of genes and the development of autism spectrum disorder (ASD). The study, funded in part by the National Institute of Mental Health (NIMH) and published in Science, adds to a...

Suspect Molecules Overlap in Autism, Schizophrenia and Bipolar Disorder

Most medical disorders have well-defined physical characteristics seen in tissues, organs and bodily fluids. Psychiatric disorders, in contrast, are not defined by such pathology, but rather by behavior. A UCLA-led study, published in Science, has found that autism, schizophrenia and bipolar...

Key Advances in Autism Research

Over the past decade, there has been a great deal of research dedicated to understanding the underlying etiology of Autism. There have been tremendous strides in the knowledge of the genetics, neuroanatomy, neurobiology and ultimately biochemical aberrations of this disorder. Additional research in...

Parental Age Ups Rate of New Mutations Passed to Children

Men and women both transmit an increasing number of new mutations to their children as they age, according to a study published recently in Nature (Jónsson H. et al., 2017). The finding is based on an analysis of whole genomes from nearly 5,000 people. The increase in these ‘de novo’ mutations...

In Genetic Diagnosis, a Path Forward – Discovering Their Son’s Genetic Diagnosis Helps One Family in Many Ways

By the time her son Curren was 3 months old, Nerissa Ramsey knew there was something different about him. He had low muscle tone and flapped his hands. Hand-flapping is a repetitive behavior commonly seen in autism. After consulting with a series of specialists, the Ramsey family was referred to...

“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...