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Raphael Bernier, Ph.D.<\/span>, is a professor at the University of Washington and the Executive Director of the Seattle Children’s Autism Center.<\/p>\n \u00a0<\/strong><\/p>\n Bernier\u00a0received his BS from Tufts University and then completed his MS degree from the University of Wisconsin.\u00a0 He then\u00a0received his PhD from the\u00a0University of Washington in 2007 and completed his clinical training in UCLA. He’s been a professor at University of Washington since the month after he graduated. Bernier has\u00a0been interested in the genetics and neuroscience of autism. His research focus has been on neurodevelopmental disorders and he has participated in clinical trials and behavioral research studies.<\/p>\n \nOutside of work, his interests include spending time with his family and\u00a0being active. Bernier says he likes to complete “races of all sorts from multi-sport adventure races to\u00a0marathons and a whole bunch of things in between.”<\/p>\n I got involved with Simons Searchlight<\/span> research as a site PI (Principle Investigator) for the Simons Simplex Collection (SSC). During one of the meetings, a handful of us started discussing the exciting findings about recurrent 16p11.2 CNVs in the SSC and how applying a genetics first approach to studying autism may prove very helpful in advancing the science.<\/p>\n For sure, we\u2019ve used the behavioral phenotype data from individuals with 16p11.2, from 1q21.1, and from many of the single genes including GRIN2B, DYRK1A, ADNP, FOXP1, SCN2A. We\u2019ve used parent report information about behavior, adaptive skills, and diagnostic information.<\/p>\n The Simons Searchlight<\/span> data has been absolutely instrumental in moving forward our understanding of the particular profiles for individuals with specific genetic changes. Importantly, by clarifying the specific patterns of behaviors associated with genetic changes, it helps make sense of the heterogeneity we see in behaviorally defined disorders, like autism. By understanding the particular profiles, we\u2019re able to learn more about the function of those genes with changes which can help advance our ability to develop targeted treatments and know what we should be monitoring for change during clinical trials.<\/p>\n It\u2019s absolutely critical because without groups of families engaged in the research process there will be no way to identify the particular profiles associated with the genetic changes, no way for clinical trials to recruit, and no way to foster two-way communication effectively between scientists and the family community.<\/p>\n We are currently describing the behavioral profiles associated with genetic changes linked to autism and directly comparing those profiles across genetic changes to identify commonalities and differences. We use the data from Simons Searchlight<\/span> combined with our own from NIMH funded studies to generate large enough data sets to identify those commonalities and differences.<\/p>\n Dr. Bernier is also involved with another research project through the Simons Foundation<\/span> — check out his video for SPARK<\/span>!<\/strong><\/p>\n<\/h3>\n
We interviewed Dr. Bernier about his research:<\/strong><\/h3>\n
How did you first start collaborating with Simons Searchlight<\/span>\u00a0research?<\/em><\/strong><\/h4>\n
How have you and your team used information collected from Simons Searchlight<\/span> families in your projects?<\/strong> What type of data did your team use, and was it associated with a specific gene change?<\/strong><\/em><\/h4>\n
How has using Simons Searchlight<\/span>\u00a0data helped in our understanding of the genetic changes associated with autism and developmental delay?\u00a0<\/em><\/strong><\/h4>\n
From a researcher\u2019s perspective, how important is it for families that have rare genetic disorders to become involved in a registry study?\u00a0<\/em><\/strong><\/h4>\n
What are your future plans for collaborating with Simons Searchlight<\/span>\u00a0or using Simons Searchlight<\/span>\u00a0data?<\/em><\/strong><\/h4>\n