Interns from the Bernier Lab presented their research at the 22nd Annual Undergraduate Research Symposium at the University of Washington’s Mary Gates Hall on Friday, May 17th 2019. The Undergraduate Research Symposium at UW is one of the nation’s largest undergraduate symposiums, with nearly a thousand posters from across a wide variety of disciplines submitted from undergraduates who are representing their departments and research. In order to present at this event, our interns had to apply, write an abstract, collect their data, run statistics, and design their posters to clearly display their research findings. Interns were supported by mentors from the lab, including staff, graduate students and post-docs. Three posters from four of the Bernier Lab’s undergraduate interns were selected for presentation in the 2019 Symposium:
Lauren ‘Koko’ Hall (pictured above) presented a poster titled: Maternal Thyroid Dysfunction, Likely Gene Disrupting Mutations and the Impact on ASD Severity.
Aiva Petriceks and Christine Haensli (pictured above) worked together to present a poster titled: An Exploration of Behavioral Phenotypes Related to DYRK1A and ADNP Gene Mutations Associated with Autism Spectrum Disorder.
Katherine Wadhwani (pictured above) presented a poster titled: Alpha Power in ASD.
We are so proud of our interns for their hard work and dedication! If you’re interested in reading their posters in detail, follow this link: UW Undergraduate Symposium.
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 Caitlin Hudac presented unpublished data at the 2019 International Society for Autism Research (INSAR) annual meeting that showed how disruptive mutations either to CHD8 – a top autism gene – or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 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
- Dr. Caitlin Hudac will be presenting on “Examining the Broader Autism Phenotype in the Context of Genetic Etiology.”
- Dr. Eva Kurtz-Nelson will be presenting on the “Clinical phenotype of de novo mutations in CHD2.”
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.
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 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.
- April 6 – April 30: See the World A Different Way, 1 Mile & 5K for Autism: A Virtual Race!
- April 7, 4-7pm: Somali Health Board’s 3rd Annual Autism Awareness Community Event
- April 7, 4-6:30pm, Sensory Friendly Performance of Balloonacy – Seattle Children’s Theatre
- April 13, 6:30pm: Exploration for All: Sensory-Friendly Visits to the Pacific Science Center!
- 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!)
- April 20, 8-10am, Autism Early Open at Pacific Science Center
- April 28: Sensory Friendly Performance of the Diary of Anne Frank at Seattle Children’s Theatre