Could This Sideburn-Sporting Scientist Crack the Autism Gene Puzzle?
Using stem cells, Brian O’Roak is figuring out how genetic mutations affect brain development — and how we might treat the disorder.
Spectrum News: Yeast assay illuminates effects of mutations in top autism gene
Mutations in the gene PTEN that are tied to autism may be less harmful than those linked to a syndrome characterized by benign tumors [and a predisposition to cancer]. Researchers presented the unpublished results today at the 2017 American Society of Human Genetics Annual Meeting in Orlando, Florida. The findings may help to explain the diverse effects of mutations in this gene. They may also serve as a model for assessing mutations in other autism risk genes.
How I learned to stop worrying and love preprints
Researchers in genetics and neuroscience are starting to embrace a new form of scientific communication: the preprint. Preprints are manuscripts that are posted online prior to being published in a journal.
KATU Channel 2 News: OHSU doctors partner with hundreds of families for in-depth autism study
A massive autism study called SPARK is underway at Oregon Health and Science University, and researchers say they're hoping to unveil more about the developmental disorder.
O'Roak Lab Publication: A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotyp
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships published in the American Journal of Human Genetics.
NIMH new innovator award recognizes leader in autism research
The National Institutes of Mental Health has awarded a highly competitive research grant to Brian J. O’Roak, Ph.D., assistant professor of molecular and medical genetics in the OHSU School of Medicine.
Sizeable fraction of autism risk traced to ‘mosaic’ mutations
The findings suggest that these so-called ‘mosaic mutations’ play a bigger role in autism than previously thought. “This number places mosaic mutations as a whole as having a similar contribution as other classes of de novo mutations,” says lead investigator Brian O’Roak.
O'Roak Lab Publication: Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder, published in September's issue of the American Journal of Human Genetics.
New Genetic Risk Factor for Autism Spectrum Disorder Identified
NEW YORK (GenomeWeb) – An international team led by Oregon Health and Science University researchers has identified new genetic risk factors for developing autism spectrum disorder (ASD). They noted that a small percentage of gene mutations in parents can lead to an extremely high frequency of genetic mutations that cause ASD in children.
FOX 12 News: OHSU joins nation's largest autism study
“You can imagine a hundred families from across the country who all find out their children have autism for the same reason, having them be able to talk to each other and connect with each other,” O’Roak said.
Webinar: Brian O’Roak discusses the accelerating pace of autism genetics
On 27 April, Brian O’Roak described new strategies for identifying and validating autism risk genes. He also discussed how high-confidence risk genes are giving researchers a better understanding of autism.
KATU Channel 2 News: Families needed as OHSU researchers join largest autism study in history
"There's the big potential benefit we can make for individuals with autism and their families by learning more about the condition and the biology," Dr. Brian O'Roak, an assistant professor of molecular and medical genetics at OHSU said."
OHSU researchers join SPARK, nation’s largest autism research study
Drs. Eric Fombonne, Brian O'Roak and Lark Huang-Storms aim to accelerate autism research and speed discovery of treatments.
Rising star: Brian O’Roak brings ‘A’ game to autism genetics
Brian O’Roak is rarely seen without a baseball cap. As a postdoctoral researcher, he was known for being intense and focused, sometimes responding to questions with a raised eyebrow beneath the bill of the cap, along with a noncommittal “Hmm …”
OHSU neurogeneticist selected as prestigious Alfred P. Sloan Research Fellow in Neuroscience
OHSU neurogeneticist Brian J. O'Roak, Ph.D., is one of a select group of researchers in the United States and Canada to be honored with a 2015 Alfred P. Sloan Research Fellowship. The highly sought-after award honors early-career scientists whose achievements and potential identify them as "rising stars."
Alfred P. Sloan Foundation: Sloan Research Fellowship Awarded to 126 Young Scholars
The Alfred P. Sloan Foundation congratulates the winners of the 2015 Sloan Research Fellowships. These 126 early-career scholars represent the most promising scientific researchers working today. Their achievements and potential place them among the next generation of scientific leaders in the U.S. and Canada. Since 1955, Sloan Research Fellows have gone on to win 43 Nobel Prizes, 16 Fields Medals, 65 National Medals of Science, 14 John Bates Clark Medals, and numerous other distinguished awards.
MSMP: New genetic risk factors for autism identified
Although the exact causes of autism are still to be discovered, a recent study led by a Portland scientist uses new technology to bolster a genetic connection for some cases.
SFARI: Sequencing study published in Nature Communications clarifies impact of autism mutations
A second look at 64 genes implicated in autism has bolstered evidence for the strongest candidates and renewed interest in others with more modest ties to the disorder. The approach, described 24 November in Nature Communications, will help researchers reconcile the reams of data emerging from large sequencing studies.
O'Roak Lab Selected OHSU's Paper of the Month
November's featured paper is called "The contribution of de novo coding mutations to autism spectrum disorder," published in Nature. Brian O'Roak, Ph.D., assistant professor of molecular and medical genetics and member of the Institute on Development & Disability, is a lead author in collaboration with other research groups.
Portland Business Journal: OHSU researchers unlock genes that lead to autism
Researchers have identified 27 genes that, if mutated, can cause or lead to the risk of autism, in a new study published online Wednesday in the journal Nature.
NPR: OHSU Study Identifies Genes Associated With Autism
A new study out of Oregon Health And Sciences University has identified 27 genes that, if mutated, may cause autism.
SFARI: Massive sequencing studies published in Nature reveal key autism genes
Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported today in Nature.