Presenter: Joris A. Veltman, Ph.D., Director, Institute of Genetic Medicine, Newcastle University, UK
Title: “De novo mutations in genetic disease”
Abstract and Bio: How is it possible that severe early-onset disorders are mostly genetic in origin, even though the disorders are not inherited because of their effect on fitness? Genomic studies in patient-parent trios have recently indicated that most of these disorders are caused by de novo germline mutations, arising mostly in the paternal lineage.
In this presentation, I will discuss our research on the causes and consequences of de novo mutations using novel genomic approaches. I will illustrate all of this using severe intellectual disability as a model, for which we are making rapid progress and now have the opportunity to provide medically relevant information to the majority of patients and families involved. Also, I will discuss risk factors increasing the number of de novo mutations in the offspring, the timing of de novo mutations and our more recent work on the role of de novo mutations in male infertility
1:00 pm
The Jackson Laboratory for Genomic Medicine Leo Holt Conference Room
Host: Dr. Peter Robinson
For more information, contact: Eileen King at eileen.king@jax.org