In this article, members of the Bernier Lab summarize the progress we have made in parsing the heterogeneity of ASD through genetics research. In our genotype-first approach, we have begun to identify genetics based subtypes of ASD. The utility of identifying these subtypes ranges from identifying critical gene and protein networks, to implications for pharmacological interventions for ASD. In short, we have made a lot of progress in the recent decades and the Bernier Lab is working together with some other fantastic investigators to execute cutting-edge research on ASD.
This week, over 4,000 athletes and coaches traveled from all 50 U.S. states and the District of Columbia to compete in events at the 2018 Special Olympics USA National Games, hosted in Seattle, WA. After beginning on July 1st, the USA National Games are now on the fourth day of events.
Founded by Eunice Kennedy Shriver in 1968, the first International Special Olympics Summer Games were held in Chicago. The Games hosted about 1,000 athletes in more than 200 events. Now, 50 years later, the Special Olympics boasts over 5.3 million athletes from 170 countries. The Special Olympics exists to provide year-round sports training and competition for children and adults with intellectual disabilities, while also continuing their opportunities to develop physical fitness, gain courage, experience joy, and to share their skills with their families, teammates, and communities.
The Special Olympics USA National Games, part of the Special Olympics Movement, hope to use the joy of sports and competition as a catalyst to create social change and to promote a more inclusive community. In May of 2015, the local Special Olympics Washington was awarded the bid to host the 4th quadrennial USA National Games. Of the 4,000 athletes competing in this year’s USA National Games, more than 300 of them are represented by Special Olympics Washington – the largest delegation among state programs.
The University of Washington (UW), along with Seattle University and Seattle Pacific University, is proudly hosting events on its campus, including Powerlifting, Track & Field, and Tennis. This year, staff from the UW Center on Human Development and Disability (CHDD), where UW’s Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center (IDDRC), University Centers for Excellence in Developmental Disabilities Education, Research, and Service (UCEDD), and Leadership Education in Neurodevelopmental and Related Disabilities (LEND) programs are based, happily came out to support the athletes and teams at several events as volunteers.
As “Fans in the Stands” volunteers, CHDD staff, including members of the UW Bernier Lab and UW LEND, cheered on the various competing teams, helping to foster a positive and competitive atmosphere for the events and athletes. Announcers politely asked spectators to refrain from booing and yelling, but heavily encouraged them to scream with excitement for all players.
For CHDD staff, volunteering as “Fans in the Stands” was a fun way to support the hardworking athletes during the Special Olympics. Staff, interns, and directors alike all watched excitedly and clapped alongside fans from Minnesota and Florida during the flag football game, and chanted along with the team from Minnesota after their loss, helping to keep spirits high. They also had the opportunity to support the WA women’s basketball team from the local Special Olympics branch and their competitors from the Texas women’s team. Overall, the USA National Games in Seattle are shaping up to be an exciting week of events!
Spectrum News discussed a new study from King’s College in London which found that mice lacking CHD8 have higher brain connectivity between the prefrontal cortex and other brain regions. CHD8 controls the structure of chromatin and the expression of several genes that have been linked to autism in humans with CHD8 mutations. The increased synchrony of brain activity in mice with inactive CHD8 is unusual compared to mice with mutations in other autism genes such as 16p11.2, CNTNAP2 and SHANK3b, which show decreased connectivity. Albert Basson, lead investigator of this study, proposes that certain autism subtypes are “characterized by increased long-range functional connectivity rather than reduced.” Indeed, people with the CHD8 mutation have unique features—a large head, motor delays, and wide-set eyes—that suggest a distinct sub-type of autism. However, it is difficult to conclude from mice models if overconnectivity is a consistent characteristic of this mutation. The mice model also did not show any social behavioral issues, which is typical for people with CHD8 mutations. Amongst other researchers, the Bernier lab’s Dr. Raphe Bernier, is currently investigating hyperconnectivity in children with CHD8 mutations, to further explore this relationship.
Check out the full article from Spectrum News here!
We are so excited to share that the Bernier Lab’s Brenna Boyd was awarded with the Psychiatry and Behavioral Science department’s Exceptional Staff award! As our lab’s supreme long distance runner, we nominated Brenna because of her “SPRINT” characteristics: Spirit, Professionalism, Research acumen, Independence, Neighborly/nice attitude, and Teamwork!
Congratulations to Brenna, we are so proud of you!!!
How can clinicians shorten the diagnosis process for families sitting on autism evaluation waiting lists? Bernier Lab’s Dr. Jen Gerdts discusses how the Seattle Children’s Autism Center’s team evaluation model, which consists of multiple providers seeing a family in a single day, compared to psychologist- and physician-led models in efficiency and effectiveness for both providers and families. Read the Spectrum news story for more information!
Gholson Lyon, assistant professor at Cold Spring Harbor Laboratory in New York found a strong connection between mutations in the NAA15 gene, a protein modifier, and neurodevelopmental delays. Lyon and his team identified 38 people with a harmful NAA15 mutation, 24 of which had autism features and 23 had an intellectual disability. This finding is consistent with a previous global NAA15 sequencing study of more than 13,000 people where 13 individuals were identified with a NAA15 mutation. By comparing genotypes with clinical behavior, the researchers found evidence of motor delays and congenital heart defects. Thus, it is critical for autism treatment and intervention to continue to identify patterns in behavior related to mutations in the NAA15 gene.