Category Archives: Research

Come Participate! Genetics Research and Pirates- What could be better?

Our Research Team is hosting a PIRATE-THEMED Research Family Fun Day on Saturday, December 2nd!  Families interested in participating in autism genetics research will have the opportunity to complete 1-2 research studies in a single day!

The SPARK and PANGEA studies are exploring genetic differences related to autism.  Families who attend the family fun day will be able to complete online registration and saliva collection for SPARK and/or a blood draw for PANGEA.  There will be food, games, prizes, parking, and childcare available!  To RSVP to this event, please contact the research team at 206-987-7917 or at

WHAT: Fun, research participation event for families

WHEN: Saturday, December 2 from 9am to 5pm

WHERE: Seattle Children’s Autism Center, 4909 25th Ave NE, Seattle, WA 98105

THEME: Pirates and Buried Treasure!

Missense Mutations identify neurodevelopmental disorder genes

A recent publication from Dr. Evan Eichler, Dr. Raphe Bernier and others discuss how missense mutations may identify neurodevelopmental disorders such as Autism.   A missense mutation is when a single DNA letter is swapped with another, altering one amino acid in a protein.  Although many missense mutations are harmless, Eichler, Bernier and others have identified some potentially harmful missense mutations associated with neurodevelopmental disorders. The research was pusblished in 2017 in Nature Neuroscience.  Spectrum News also discusses the study results with interviews from Dr. Eichler and others involved.

Scan of ‘missense’ mutations marks new suspects for autism risk


SCN2A Family Meeting

Two weeks ago a team from the Bernier Lab had the pleasure of flying to Wilmington, Delaware to help facilitate testing for some amazing kiddos affected by disruptive mutations to the gene SCN2A. Our team included our TIGER study coordinator, Morgan Kelly, Post-doc and EEG specialist, Dr. Caitlin Hudac, and our clinical post-doc, Dr. Jessica Peterson!  Dr. Raphe Bernier, the principal investigator of the TIGER study, also came out to the SCN2A family meeting to give a presentation on “Dynamic Behavioral & Neural Patterns Among Children with de novo SCN2A Variants”.

Thank you to the families who participated in the TIGER study during this weekend, we are very grateful to all of you and for those who helped organize and attend the event for make this research possible! Participation involved completion of assessments and collection of EEG.

Some highlights from the conference include seeing scientists and families engaged across both days with presentations made by family members and scientists interspersed, and attending the family meeting dinner, where we were able to meet with other researchers and hear stories from families affected by this genetic event. It was a truly wonderful experience to meet some of the families who are invested in seeing SCN2A research advance, thank you for welcoming us and we look forward to future collaborative work!

Follow the link to learn more about the SCN2A family conference:

INSAR Summer Institute Schedule 2017

The International Society for Autism Research is hosting a free series of six weekly seminars related to culture and diversity in autism research. These seminars are from July 13 to August 24. Check out the INSAR website for more detailed information!

Registration is free and available worldwide to those interested in autism research.

This year’s focus will be related to culture and diversity in autism research.

13 JulyDr. Aubyn Stahmer (University of California, Davis MIND Institute) opens with a seminar on access to services and services across diverse communities.

27 JulyDr. Elizabeth Pellicano (University College London) is leading a seminar about ethical considerations, specifically ethics of autism research and the relation of ethics to research participation.

3 AugustDr. Roy Richard Grinker (George Washington University) will provide an anthropological view of ASD.

10 August Dr. Sue Fletcher-Watson (The University of Edinburgh) takes us through what we need to know and what we do not yet know about bilingualism in ASD.

17 August Dr. Jennifer Singh (Georgia Institute of Technology) will provide an overview about the structural inequalities in the diagnosis and services for ASD.

24 August Dr. Nidhi Singhal (National Centre for Autism India) concludes the series with a presentation on topics related to autism research in India, particularly epidemiological aspects and the development of screening and diagnostic tools. Â

What Grandmothers Can Teach Science About Autism

Spectrum News and The Atlantic published a great article about how women who have raised a child with autism may be able to spot subtle signs of the condition in their grandchildren.  The RabLab’s Dr. Jen Gerdts is also interviewed in this article!

The article explores research that examines autism-like behavior in relatives of someone on the autism spectrum, like a sibling, an aunt or a grandparent, and the genetic inheritance that may or may not be related.  It looks into the idea that traits that may seem like quirks in a family are perhaps stemmed from mutations that contribute to autism, and likewise spontaneous (de novo) mutations that are associated with autism appear to come from a lineage of a family without a history of autism.  The article discusses past and present research that explores the inheritance and non-iheritance of genetic mutations associated with autism, and what we can learn from relatives of those diagnosed with ASD.

You can find the full article here.