April 19, 2016

The Genome, Autism and More Genomes

By Jeff Briggs

Dr. Stephen Scherer

In 2014, about one in every 68 children in the U.S. was diagnosed as being on the autism spectrum. A neurodevelopmental disorder often characterized by impaired social interaction, verbal and non-verbal communication, and restricted and repetitive behavior, autism is known to have no single cause but it’s been known for some time that the disorder has a genetic component.

Canadian geneticist Stephen Scherer, Ph.D., FRSC, director of the Centre for Applied Genomics at Toronto’s Hospital for Sick Children, often called SickKids, and the McLaughlin Centre at the University of Toronto, a combined $100 million initiative in genomic medicine at the University of Toronto’s Faculty of Medicine, has made some astounding advances in autism research and awareness.

Dr. Scherer’s team found a statistically significant way of predicting autism, which has been hailed as offering hope to parents seeking early treatment.

“We now know for the first time, with definitive evidence, that genes can cause autism,” Dr. Scherer said in an article for Canadians Health Research.  “We have identified six genes that, if you only have one copy instead of the typical two, you have a very high risk of being autistic — but we also have evidence that there may be over 100 different genes that can lead to autism.”

Dr. Scherer and his research team were also involved in the largest-ever autism genome study that revealed the disorder’s genetic underpinnings and showed they are even more complex than previously thought: Most siblings who have autism spectrum disorder (ASD) have different autism-linked genes

His group contributed to the discovery of global gene copy number variation (CNV) as a common form of genetic variation in human DNA. They also identified CNV to contribute to the aetiology of autism and many other disorders, and the Database of Genomic Variants he founded facilitates hundreds of thousands of clinical diagnoses each year.

Panel 4He is also involved in an ambitious and groundbreaking collaboration between SickKids, Autism Speaks and Google.  Scientists around the globe now have open access to thousands of genomes for autism research.

The goal of the online portal, called MSSNG (pronounced “missing”), is to to sequence the genomes of 10,000 individuals from families with autism, and store all the data in an open-source research platform — Google Cloud Platform — so it is accessible to researchers around the world. By making the research data broadly available in a cloud-based platform for scientists to study and share information, the hope is it will lead to the identification of genetic variants that cause autism.

“MSSNG is the largest open science genome sequencing project in the world and we have designed it to try to answer the questions that families affected by autism bring to us on a regular basis. The hope is that this data will give scientists the means they need to find better ways of diagnosing and treating the condition,” Dr. Scherer told PBS NEWSHOUR. “This project has been a massive undertaking that would not have been possible without close collaboration with Autism Speaks and Google. Our team is sharing all of our experiences with others who are starting similar initiatives in other medical conditions.”

Dr. Scherer will be discussing genomes, autism and more genomes in his plenary talk at the 2016 Individualizing Medicine Conference: Advancing Care Through Genomics. Hosted by the Center for Individualized Medicine, the fifth annual genomics conference takes place October 5–6, in Rochester, Minn., home of Mayo Clinic.

The conference focuses on how to translate the promise of genomic medicine into better patient care. Experts in the field will offer updates on cancer research, on the latest discoveries in pharmacogenomics and what is happening with the National Institutes of Health’s Precision Medicine Initiative.

Epigenomics, the microbiome, and biomarker discovery are just a few of the topics featured in focused breakout sessions and case studies. They will take you into the details of research with some of the most knowledgeable experts in the field today.

Save $100 on conference fees by registering now. Early bird registration runs through June 30.

Follow conference developments on the Center for Individualized Medicine blog; on Facebook; or on Twitter, at @MayoClinicCIM and #CIMCon16.


Tags: #CIMCon2016, autism, center for individualized medicine, Dr. Stephen Scherer, Genetic Testing, individualized medicine, Individualized Medicine Conference 2016, Precision Medicine, SickKids, Uncategorized, University of Toronto

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