I am a graduate student researcher at the Center for Craniofacial and Dental Genetics, which is housed in the School of Dental Medicine at Pitt. The main goal at CCDG is to identify genetic modifiers for complex craniofacial and dental disorders in humans. I am fortunate enough to work with Dr. Seth Weinberg on trying to identify genetic factors that contribute to certain facial features. Changes in facial features related to the distance between the eyes, for example, are seen in a number of genetic disorders. We are attempting to identify common genetic variants that may contribute to eye-spacing in an unaffected control group called 3D Facial Norms. The 3D Facial Norms Database was created to provide a high-quality control group focusing on craniofacial anthropometry, or facial measurements.
Earlier in 2016, the team at CCDG published a paper about the results of their genome-wide association study on the 3D Facial Norms Repository. This study showed that multiple genome-wide significant loci found in genes related to craniofacial development contribute to normal human facial features. One of the facial features found to be involved is inter-canthal distance, or the distance between the eyes. This research led to my thesis project. I selected forty candidate genes that are thought to be involved in craniofacial development and conducting an analysis to determine if inter-canthal distance (distance between the inside of the eyes) or outer-canthal distance (distance between the outside of the eyes) is associated with the selected genes.
|An example pedigree|
Besides my thesis work, I am also involved in two major projects within CCDG. I, along with another second year genetic counseling student, am working to review pedigrees from research participants, which involves over 5,000 families, and identify potential Mendelian patterns of inheritance of cleft lip and palate. We are in charge of classifying each family as autosomal dominant, recessive, X-linked, reduced penetrance, etc. This has been helpful for our future roles as clinical genetic counselors because it has sharpened our pedigree analysis skills.
The other project is the Syndromes Project. When we have a participant in our orofacial clinic study, an extensive demographic, medical, developmental and dental history is taken. We are trying to identify individuals with medical conditions suggestive of a genetic syndrome based on the answers they provided in the above history forms. Since CCDG is ascertaining individuals who have isolated cleft lip and palate (not a part of a genetic syndrome) it is important that it also identify the families that may, in fact, have a genetic syndrome in these two projects.
I think that working at CCDG has helped me gain a new appreciation for the research process as a whole and I am very grateful for having the opportunity to work with a great team of scientists every day!
- Samantha Wesoly, Class of 2017