As taboos around “mental illness” have receded in recent years, the true impact on society of conditions like autism, schizophrenia, and bipolar disorder has become clearer. Also, once removed from myths about personal responsibility, scientific and medical research has been making broad strides in understanding the origins of these disorders and how to treat them.
The New York Genome Center’s state-of-the-art technology, combined with collaborative work that is both broad and deep, has put us at the forefront of this revolution. We intend to not only extend our research of whole genomes of autism patients, but also expand into a range of related disorders, including schizophrenia and bipolar, that have genes implicated in common with autism. Our experience in whole genome autism research positions us to pursue large-scale whole genome sequencing efforts to understand the genomics underpinning other neuropsychiatric disorders, including to understand how to interpret non-coding DNA sequence variants in autism, other neuropsychiatric diseases, and healthy individuals.
NYGC – Recognized Leader in the Genomic Research of Autism
The New York Genome Center (NYGC), in partnership with the Simons Foundation and the National Human Genome Research Institute (NHGRI), has become a recognized leader in the genomic research of autism.
In 2016, the NYGC was awarded $40 million, over four years, from NHGRI, a division of the National Institutes of Health (NIH), to create a Center for Common Disease Genomics (CCDG) collaborative large-scale genome sequencing program focused on the study of autism. Over 22,000 autism whole genomes sequenced and analyzed to date, and studies are underway to identify the relation between autism-associated DNA sequence variants, RNA transcription, and splicing defects. The NYGC has also begun whole-genome sequencing on 400 families in the SPARK (Simons Foundation Powering Autism Research for Knowledge) initiative, with another 400 families in the pipeline and many more planned for 2019.
Additionally, NYGC’s Senior Associate Core Member Mike Wigler, PhD, (Cold Spring Harbor Laboratory), Associate Member Evan Eichler, PhD, (University of Washington), and Core Faculty Member Neville Sanjana, PhD, are all engaged in research into autism genetics.
Neville Sanjana, PhD, was awarded a 2018 Young Investigator Award from the Brain & Behavior Research Foundation to support his research into autism genetics.
NYGC Associate Member Evan Eichler, PhD, is the lead author and NYGC Senior Director, Computational Biology Michael Zody, PhD, among the co-authors of Genomic Patterns of De Novo Mutation in Simplex Autism, published in Cell in October 2017. The paper reports on a large-scale whole genome sequencing study that compared the whole genomes of 516 autistic children with no family history of autism with the whole genomes of their parents and an unaffected sibling. Risk-raising mutations, which occurred in children but not their parents, were found in both protein-coding and regulatory or non-coding portions of the genome. The study’s findings could help researchers better understand the genetic signatures of autism, i.e., the suite of genetic abnormalities underlying the disorder.
Neuropsychiatric Disease Working Group
The NYGC has created a new scientific working with the objective of bringing together researchers from our Institutional Founding Members (IFMs), NYGC faculty, senior faculty, NYGC technology development and computational scientists, and affiliate members to discuss the underlying disease mechanisms in neuropsychiatric disease.