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Top Autism Gene and Defining Characteristics

Last week our very own Dr. Caitlin Hudac presented unpublished data at the 2019 International Society for Autism Research (INSAR) annual meeting that showed how disruptive mutations either to CHD8 – a top autism gene – or genes CHD8 controls may define a subtype of Autism. These mutations have been seen to related to similar behavioral characteristics, like enlarged heads (Brenna Boyd in a poster at INSAR) and severe social problems (Dr. Jen Beighley and Dr. Hudac, under review). By looking at these mutations as a subtype, this will help to bridge how the impact of these genes at a molecular level therefore creates behavior that we can observe.

Through looking at children with disruptive CHD8 mutations or a mutation to one of six genes that CHD8 regulates, it was found that these mutations largely affects social behavior, everyday functioning/intelligence and unusually large head size. Compared to mutations of target genes, CHD8 participants tended to have the most social problems on average, but also had the best adaptive skills (Beighley, Hudac). Though timing of development of large head differs between CHD8 mutations and target genes (Boyd), they had common electroencephalography (EEG) brain responses which may reflect an ASD-associated early enhanced  hypersensitivity but a lack of sustained response to certain noises. These findings could underlie some of the sensory sensitivities that characterize CHD8 and related genetic groups.

Full article can be found here on spectrum news: https://www.spectrumnews.org/news/targets-top-autism-gene-may-define-form-condition/

INSAR 2019

INSAR 2019 has begun, and the Bernier Lab showed to this years International Meeting for Autism Research, in Montreal, Canada, in amazing numbers!  You can find our teams posters and talks on our website here at our webpage INSAR 2019.  Here is a list of our team’s presentations:

At the International Society for Autism Research (INSAR) annual meeting, we will be presenting the following:

Thursday May 2, 2019

  • Oral presentation: 2:05 pm in Room 516ABC
    • Dr. Caitlin Hudac will be presenting a talk on “Characterizing the neural phenotype of CHD8 and CHD8-regulated targets”.
  • Poster presentations: 5:30-7:30pm in Room 710
    • Brenna Boyd will be presenting r on “A comparison of Head Circumference Growth Trajectories in the Context of the CHD8 Regulatory Network.”
    • Monique Mahony will be presenting on “GroopIt: An Innovative Platform to Speed up Rare Genetic Disorder Research.”
    • Sandy Trinh will be presenting on “Exploring Social Profiles of Individuals with 16p11.2 Deletion and Duplication.”

Friday May 3, 2019

  • Poster presentations: 11:30 am – 1:30 pm
    • Dr. Jen Gerdts and colleagues will be presenting  on “Age-based diagnostic tracks are Effective in Interdisciplinary Team Evaluation for Autism Spectrum Disorder”.
    • Dr. Tamar Kolodny will be presenting on “Typical Cortical Concentration of GABA+ and Glx in Young Adults with Autism Spectrum Disorders”
  • Poster presentations: 5:30-7:30pm in Room 710

Families offer new insights into autism genes

Jessica Wright wrote an article for Spectrum News titled “Families of disabled children offer new insights into autism genes“.  This article is relevant to the Bernier Lab as we work closely with research families, many of whom are part of families groups or similar communities.

Though autism-linked mutations appear in a relatively small portion of the population, online support groups allow distant families to bond over the shared challenges and achievements that come with raising autistic children. These groups are often hidden gems of scientific discourse, as parents are thrust into the world of gene science in an effort to understand their children’s needs. They both nurture conversation and act as information repositories.

These groups can grow so intimate and large that they eventually spawn real-life meetings–and researchers are taking notice.

In these spaces, parents and scientists can collaborate in novel ways, observing autistic children’s behavior in natural settings. This helps scientists spot traits that they could not observe otherwise–from how the DYRK1A mutation affects the way children sit to SYNGAP1’s dulling effect on sensory neurons. Parents will often share unique characteristics that they have noticed in their children, such as the remarkable rate of tooth development in ADNP populations. Their perspectives are invaluable, identifying phenotypic leads that can inspire new and exciting research.

Some researchers will even co-host these meetings, bringing diagnostic materials and using the events as recruitment opportunities. The Bernier Lab has co-hosted several meetings in Seattle for people with mutations in DYRK1A or SCN2A–allowing them to recruit participants for their TIGER study in-person. Thanks to these families’ cooperation, the number of DYRK1A participants in the TIGER study has swelled by 30%.

Autism research is still a blossoming field, and with the help of parents from around the globe, researchers can now reach populations that have rarely been studied before.

SPARK family interview on KOMO News

An amazing family met with KOMO News and discussed how Autism has impacted their famil  and their participation in the SPARK study.  The SPARK Study is the largest study on genetics in Autism ever done in the USA.  If you are interested in learning more, check out SPARK at https://sparkforautism.org/?code=uw or contact our coordinators at SCACstudies@seattlechildrens.org, and watch the KOMO News report here!

April Autism Awareness Month


April is Autism Awareness Month, and we are very excited! Here are some events happening around the Seattle Area.

Check out Sensory Friendly Events at SensoryAccess.org/Seattle.

  1. April 6 – April 30: See the World A Different Way, 1 Mile & 5K for Autism: A Virtual Race!
  2. April 7, 4-7pm: Somali Health Board’s 3rd Annual Autism Awareness Community Event
  3. April 7, 4-6:30pm, Sensory Friendly Performance of Balloonacy – Seattle Children’s Theatre
  4. April 13, 6:30pm: Exploration for All: Sensory-Friendly Visits to the Pacific Science Center!
  5. April 14, 10-2pm: WAAALK 2019, Day Out for Autism, WA Autism Alliance & Advocacy, Downtown Park, Redmond, WA (Come find us at the Seattle Children’s Autism Center/SPARK booth!)
  6. April 20, 8-10am, Autism Early Open at Pacific Science Center
  7. April 28: Sensory Friendly Performance of the Diary of Anne Frank at Seattle Children’s Theatre

Sound and Brain Circuits

Neural circuits have a large impact on many disorders, including autism spectrum disorder. Understanding them and how to control them could be the key to many possible treatments. As it stands the methods we have to control neural circuits are invasive and can lead to serious brain damage. In efforts to resolve this problem Jerzy Szablowski and some of his fellow colleagues from Mikhail Shapiro’s lab at the California Institute of Technology in Pasadena put an interesting spin on one of the current methods, chemogenetics. Chemogenetics uses “a virus to ferry synthetic receptors into neurons” in order to activate or inhibit the targeted neurons. Traditionally the virus is injected directly into the brain to avoid the blood brain barrier and requires surgery that comes with the risk of brain damage. In this new method Szablowski and his colleagues are instead able to inject the virus into the blood and use ultrasound to pass the blood brain barrier. They achieved this by injecting microscopic air bubbles that vibrate in response to ultrasound waves. The vibration puts enough pressure on the blood brain barrier for it to open momentarily and allow the virus to diffuse through. So far they have only applied this method in mice and rats, but it has been a success overall. In the future they hope to keep refining it and one day apply what they find to treatments for autism spectrum disorder and many others.

Full article can be found here on Spectrum News: https://www.spectrumnews.org/news/sound-strategy-enables-precise-control-brain-circuits/