The rockefeller university

Event Details

Type

Friday Lecture Series

Speaker(s)

Evan Eichler, Ph.D., professor of genome sciences, University of Washington School of Medicine; investigator, Howard Hughes Medical Institute

Speaker bio(s)

Dr. Eichler will summarize his lab's recent finding regarding the discovery of rare, large copy number variants (CNVs) and their contribution to autism spectrum disorder and intellectual disability. Their analysis of over 2,500 children with autism and more than 30,000 children with intellectual disability suggests that between 8 and 14 percent of disease is caused by deletions and duplications of large segments of the genome involving multiple genes. These mutations can be either inherited or found in the parents of children depending on the size of the event. Dr. Eichler will present evidence from exome and molecular inversion probe sequencing of more than 2,000 parent-child trios with sporadic autism and show how these data may be used to pinpoint novel genes underlying CNV burden as well as provide insight into new pathways. Dr. Eichler's lab finds that some of the same disease-causing mutations can manifest very differently and, in particular, be more severe if they occur on a background of other compounding mutations. They find that both de novo mutations and inherited single nucleotide variant and CNV mutations are contributing to simplex autism. Dr. Eichler predicts that the overall burden of rare and private disruptive mutations will correlate with different outcomes ranging from autism, to intellectual disability and epilepsy. He proposes that the early development of the brain is particularly sensitive to the timing and expression of many different genes and that multiple genetic perturbations within specific pathways can lead to disease with varying severity.

 

Dr. Eichler graduated with a B.Sc. in biology from the University of Saskatchewan and received his Ph.D. in 1995 from the department of molecular and human fenetics at Baylor College of Medicine. After a Hollaender postdoctoral fellowship at Lawrence Livermore National Laboratory, he joined the faculty of Case Western Reserve University in 1997 and later the University of Washington in 2004. He was a March of Dimes Basil O'Connor Scholar from 1998 to 2001, appointed as an HHMI Investigator in 2005, awarded an AAAS fellowship in 2006 and the American Society of Human Genetics Curt Stern Award in 2008, and was elected to the National Academy of Sciences in 2012. Dr. Eichler is an editor of Genome Research and has served on various scientific advisory boards for both NIH and NSF. His research group provided the first genome-wide view of segmental duplications within human and other primate genomes and he is a leader in an effort to identify and sequence normal and disease-causing structural variation in the human genome. The long-term goal of his research is to understand the evolution and mechanisms of recent gene duplication and its relationship to copy number variation and human disease.

Open to

Public

Host

Cori Bargmann

Reception

Refreshments, 3:15 p.m. - 3:45 p.m., Abby Lounge

Contact

Gloria Phipps

Phone

(212) 327-8967

Sponsor

Gloria Phipps
(212) 327-8967
phippsg@rockefeller.edu