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

 

 

SPARK Webinar 8/16: IEPs

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: https://www.scn2a.org/single-post/scn2aconference

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