The Bernier Lab has researched and plans to continue to research the SCN2A gene. There are different types of mutations in this gene. Some of the mutations are linked to autism, and others are linked to seizures. This article in spectrum news discusses the different types of SCN2A mutations.
Distinct mutations in sodium channel trigger autism, epilepsy
President Donald Trump’s proposed cut for the U.S. National Institutes of Health’s (NIH) 2018 budget could stall advances in research for generations, researchers say. This would dramatically cut funding for Autism Research. Read Spectrum’s article about the budget cut’s below:
Autism researchers blast budget cuts for U.S. funding agency
Spectrum News published a great article on March 29th called “Rare Autism Mutations Linked to Distinct Sets of Features”, by Nicholette Zeliadt. The article includes an interview with our own Dr. Raphe Bernier!
Data from the Simons Simplex Collection (SSC) was examined, including measures of autism features, cognitive, language and motor skills. The children included had lower cognitive abilities and more severe autism features than other children from the SSC not included in this data sample. Results indicate that children with de novo mutations have an approximately 2-month delay in walking than children without these mutations, but have better language and less severe social difficulties.
Follow this link for the full article: https://spectrumnews.org/news/rare-autism-mutations-linked-distinct-sets-features/
Seattle Children’s Theatre now offers great Sensory-friendly performances! On May 7, 2017 at 11:00m they have a Sensory-Friendly/Relaxed performance of Fire Station 7! Follow the link for more information and see information below taken from their website!
http://sct.org/Shows/Events/RelaxedPerformances
Each Relaxed or Sensory-Friendly Performance incorporates special modifications to accommodate audiences with sensory needs:
In this edition of the Blogcast, our reporters discuss autism awareness activities in the Seattle area, and prevalence rates. What a great blogcast, thank you Raphe and Jim!
A local, Brush Prairie, Washington mother discovered a biomarker for the rare Activity Dependent Neurprotective Protein (ADNP) gene syndrome. This genetic event can be associated with Autism Spectrum disorder and is a gene event studied at the Bernier Lab. Sandra Sermone, the mother who identified the biomarker, just published the results of her research (link to article here), and has been following up with interviews to news agencies.
Follow this link for a great news article about Sermone’s research!
Watch the news report about Sermone and her research!