Category Archives: News

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

 

ABC Center in the News

The Alyssa Burnett Adult Life Center (ABC) is a center for adults with Autism Spectrum Disorder and other developmental disabilities. These centers (e.g. Seattle, Bellevue) offer classes and activities for adults 18 years of age and older that focus on recreation, health and fitness, and life skills.

This year, Bernier Lab staff volunteered at one center providing mock-job interviews to students in a professional skills developing class.

The Seattle Times recently reported a wonderful story about the ABC center’s ‘Spring Fling’, featuring Kelley Fox. The Times Report sends a great message about the work ABC is doing and its impact on families and individuals who attend the centers.

http://www.seattletimes.com/seattle-news/rare-disorder-cost-her-half-her-brain-but-that-doesnt-stop-kelley-fox-from-enjoying-life/