Trainee Author: Janson White, PhD
Department of Pediatrics, University of Washington
(Photo courtesy White)
This study was selected for the Trainee Paper Spotlight because it uses extensive genetic and genomic studies to identify new pathogenic variants implicated in Robinow syndrome, a rare disease with genetic heterogeneity, characterized by short stature, limb shortening, and distinctive craniofacial features. Rare disease research is increasingly important in this genomic age, as studying causes of rare diseases can often lead to novel findings that inform fundamental questions of biomedical science. White et al. recruited 21 families with Robinow and Robinow-like phenotypes to identify additional pathogenic variants, all of which are involved in the Wnt signaling pathway. These results support Wnt signaling as a critical pathway whose perturbations lead to Robinow syndrome, and offers new clues into how Wnt signaling is involved in human embryonic development.
Training & Development Committee: Could you describe your research for us?
Dr. White: My research goals align with many in our field: I want to help identify the genetic basis of heritable conditions. I am particularly focused on the complex etiology of isolated birth defects such as congenital heart malformations. To understand the causes of birth defects, we use a combination of Mendelian variant prioritization as well as case-control rare-variant association tests.
TDC: What are your career goals?
Dr. White: I don't aspire for any particular position or title. I just want to be a part of a collaborative environment that has a positive impact of our field. To this end, I would like to teach and inspire younger students and scientists to actually enjoy research and the exciting field of genomics.
TDC: Why did you choose genetics as your field of study?
Dr. White: Since my first genetics courses in college I have wanted to be apart of the genetics community. It is a field that is growing so rapidly and invading nearly all other scientific disciplines; it’s hard not to get excited about discoveries that we can make and how quickly they can make an impact on people’s lives.
TDC: If you could pick three words that describe yourself, what would they be?
Dr. White: Curious, Conscientious, Geek
The Trainee Paper Spotlight is a quarterly feature highlighting outstanding papers written by trainee members of ASHG.