Category Archives: Genetics

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


Rare Autism-Related Genetic Consultation Clinic at Seattle Children’s Autism Center

The Seattle Children’s Autism Center has launched the new Rare Autism-Related Genetic Consultation Clinic (RARE Clinic)!

Children born with certain genetic changes (mutations) may have autism spectrum disorder; speech and language disorders; intellectual disabilities; physical differences; seizures; gastrointestinal problems; or sleep concerns. The RARE Clinic will provide a short-term consultation service, usually 3 to 4 appointments in a single day, to help address concerns related to your child’s genetic change. Your child will be see by experts in psychology; speech and language; and pediatrics.

For more information families should call 206-987-8080 and visit the Seattle Children’s Autism Center website!

Genetic changes include:

  • 16p11.2 deletion/duplication
  • ADNP
  • CHD2
  • CHD8
  • DYRK1A
  • GRIN2B
  • POGZ
  • SCN2A
  • TRIP12



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: