ASF-Funded Projects Highlighted
at the INSAR 2018 Annual Meeting

The International Society for Autism Research (INSAR) held its annual meeting in Rotterdam, Netherlands last week.  This conference showcases autism research across disciplines to highlight the scientific progress being made around the world.  ASF-funded grantees in various disciplines, including genetics, sex differences, imaging, employment, and neurobiology presented their recent findings.  We have highlighted just a few of the presentations made by ASF researchers at the meeting below:

INSAR 2018_ Dr. Matt Lerner
Matthew Lerner, PhD, Stony Brook University
The Autism Science Foundation, the Lerner Lab at Stony Brook University, Curtin University in Australia, and Karolinska Institute in Sweden presented findings from their scoping review, community meetings, and survey of stakeholders regarding employment.  Some findings from the multinational survey included the critical need for internships for adults with autism, differences in opinion between employers and employees regarding barriers to employment, and the positive impact of employment on other life domains for adults with autism. 

INSAR 2018
Donna Werling, PhD, UCSF
ASF Fellow '16 Dr. Donna Werling of the University of California, San Francisco, presented findings from whole genome sequencing (WGS) research examining regions of DNA which don't code for proteins but regulate those that do.  Early research shows that mutations in these non-coding regions of the genome may lead to altered brain development.  Dr. Werling's findings confirmed age as a major driver of the expression of both types of regions, suggesting major differences in which regions are expressed during childhood and during adulthood.

INSAR 2018_ Dr. Natasha Marrus
Natasha Marrus, MD, PhD, and Zoe Hawks, Washington University in St. Louis
ASF Fellow '15 Dr. Natasha Marrus of Washington University in St. Louis reported findings from her study examining recurrence of autism in children of undiagnosed siblings of people with ASD - children who would be the nieces and nephews of those with autism.  From a sample of 85 of these children, 12 (14%) had a confirmed ASD diagnosis and 19 (22%) had a confirmed or suspected ASD diagnosis.  The study's findings support the idea that autism risk genes may pass on silently from an unaffected sibling to their offspring.

INSAR 2018_ Dr. Nicole McDonald
Nicole McDonald, PhD, UCLA
Dr. Nicole McDonald of the University of California, Los Angeles, presented research findings from the Baby Siblings Research Consortium - an ASF-supported collaboration studying early signs, symptoms and biological features of ASD.  The findings showed that families with 2 or more children with ASD had a higher probability of having another child with ASD compared to those with one.  Also, undiagnosed siblings in those families had greater challenges in language and development.  This study will lead to better intervention services for the entire family of those with autism.

INSAR 2018_ Dr. Craig Powell
Craig Powell, MD, PhD, UT Southwestern
Dr. Craig Powell of UT Southwestern presented the research of his mentee, ASF Fellow '16 and '18 Dr. Christine Ochoa Escamilla.  Her research examined the role of the Kctd13 gene, which has been associated with many neuropsychiatric conditions including autism, in a mouse model lacking Kctd13.  The mutation reduced neuronal function and increased levels of a molecule known as RhoA. However, the effects of the mutation were reversed by inhibition of RhoA, suggesting its potential as a target for drug therapy.

Tatiana Winkelman_ Yale University
Tatiana Winkelman, Yale University
ASF Grantee '16 Tatiana Winkelman of Yale University presented findings from EEG research conducted in the lab of ASF SAB member Dr. James McPartland.  Her research found that children with ASD had higher rates of sleep disturbances than typically developing (TD) children, but did not display the same brain activity patterns associated with those sleep disturbances as TD children.  The findings suggest children with ASD may have brain activity distinct from TD children that leads to their sleep disturbances.

INSAR Special Interest Group Focuses on Building  Partnerships with Patient Advocacy Groups

INSAR 2018_ Partnerships SIG
INSAR Partnership Special Interest Group Breakout Session

ASF partnered with the Jeste Lab at UCLA to organize a Special Interest Group (SIG) focused on promoting partnerships between autism researchers, clinicians, patient advocacy groups, and families in the autism community.  This work is being done via the Alliance for the Genetic Etiologies of Autism and Neurodevelopmental Disorders, led by ASF.  At the start of the SIG, organizers highlighted the ongoing work of ASF and the Simons Foundation toward organizing and interpreting data in different patient advocacy registries.  These data can be used to help researchers understand the unique contributions of particular genes to the features of autism and to inform families about their unique needs.  Afterwards, clinicians and stakeholders discussed how researchers and families could work together to foster better communication.  The group collected ideas on actionable steps organizations can take to improve science communication for autism families. 
ASF Podcast Research Recap of INSAR 2018

This week's ASF Weekly Science Podcast offers a short summary of the research findings presented at the INSAR 2018 Annual Meeting. 

Listen to the podcast episode here.
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