We received our first R01 from NIDCR to study the causes of Van der Woude syndrome, the most common syndromic form of orofacial clefts. In the next 5 years, we hope to identify the genes that when mutated cause VWS in the 25% of VWS families that currently have no known cause. We also hope to identify genetic modifiers that explain the highly variable phenotypes within VWS families.
We teamed up with colleagues Seth Weinberg (University of Pittsburgh) and Rob Cornell (University of Iowa) to curate a special craniofacial genetics collection for PLOS Genetics. We selected published papers in PLOS journals reflecting our particular areas of interest: craniofacial morphogenesis, dysmorphology and syndromes, and normal human facial variation. We highlighted papers that made substantial contributions to the craniofacial field and looked to the future in high-throughput functional studies, phenotyping, and genomics.
We’ll be presenting at the Consortium for Orthodontic Advances in Science and Technology (COAST) conference in Scottsdale, AZ in September. We’ll also be presenting a poster at the American Society of Human Genetics (ASHG) in San Diego, CA in October.
We have two new preprints out on different aspects of heterogeneity in clefting.
We'll be at the 75th Annual American Cleft Palate-Craniofacial Association meeting in Pittsburgh, PA. Elizabeth will be presenting a talk, "A Systematic Analysis Of Orofacial Clefts Reveals Subtype-Specific Genetic Effects" at the Genetics Concurrent Session on Friday, April 13 at 11am. It looks to be a great session with a focus on a the genetic risk factors for subtle and not-so-subtle craniofacial phenotypes.
Our abstract "Identification of 16q21 as a modifier locus for orofacial cleft phenotypes" is one of the Reviewer's Choice Abstracts. Catch Elizabeth at Poster 2186 on Thursday, October 19 from 3-4pm.
The lab officially relocated to Emory University from the University of Pittsburgh. We are part of the Center for Computational and Quantitative Genetics in the Department of Human Genetics. We can't wait to get started!