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Autism Speaks Funds Predoctoral Fellows to Study Genes, Epigenetics of Autism

NEW YORK (GenomeWeb News) – Autism Speaks yesterday announced nine new winners of its Dennis Weatherstone Predoctoral Fellows grants, including three researchers studying some of the possible genetic and epigenetic factors involved in autism.

Using $530,000 provided by the Stavros Niarchos Foundation, the Weatherstone awards support "rising talent" in autism research, and most of the grants provide $59,000 over two years to these investigators, who will have mentors overseeing their research.

One grant recipient, Alishan Dincer at the Icahn School of Medicine at Mount Sinai, will study histone methylation patterns from postmortem brain tissue to better understand the role this epigenetic mechanism plays in the brain biology of autism. Autism Speaks said researchers have speculated that autism may be the result of gene expression problems in brain cells, and the fine mapping of brain cell genomes could be helpful in understanding how non-coding DNA is involved in the neurobiology of autism.

At the University of Toronto, Emma Strong will use the fellowship funding to investigate how DNA methylation is involved in two of the genetic causes of autism, Williams syndrome and 7q11.23 duplication syndrome.

First, Strong plans to study genome-wide DNA methylation in families with fewer deletions or duplications of 7q11.23 and in mouse models to identify which specific genes alter DNA methylation when they deleted or duplicated. She also plans to assay DNA methylation and gene expression in neural tissue from mouse models and use RNA sequencing to identify novel genes and pathways that are disrupted by DNA methylation in the brain. Autism Speaks said her work could "identify new pathways involved in the development of autism and could be a first step toward more tailored treatments."

University of California, Los Angeles investigator Steven Klein is searching for genetic changes linked to autism in children who have macrocephaly, which has "a long-standing association" with autism that has been confirmed by many studies, the non-profit said. Genetic etiologies account for 40 percent of autism cases, and mutations in the gene phosphatase and tensin homolog (PTEN) have been correlated to extreme macrocephaly.

PTEN testing has now become standard care for cases that present both autism and macrocephaly, but a group of cases with both disorders have been shown to have no PTEN mutations. Klein's research aims to focus on the genetic etiologies of these cases, and to expand the list of genetic changes that are associated with this subgroup, with the goal of enabling new early testing methods, treatments, and intervention therapies.

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