Trainee Author: Gaia Andreoletti, PhD
Postdoctoral Research Fellow (Brenner Lab)
University of California, Berkeley
(Photo courtesy Andreoletti)
This study provides important insights into the pathogenesis of inflammatory bowel disease (IBD). Takahashi, Andreoletti et al. use whole exome sequencing (WES) to identify six de novo and rare HSPA1L mutations that may cause IBD. They found that these mutations caused loss of function in the heat shock protein HSPA1L, demonstrating a potential functional role for this protein in IBD. Not only does this study contribute to the understanding of the genetics of IBD, but it also outlines WES methods that could be broadly applied to genomic investigations of other complex conditions.
ASHG: Could you describe your research for us?
Dr. Andreoletti: After working on one of the largest exome data cohorts of pediatric IBD patients at the University of Southampton, I am currently a postdoctoral fellow for Professor Steven E. Brenner’s scientific group at the University of California, Berkeley as the sole leader of the Critical Assessment of Genome Interpretation (CAGI). CAGI is a community experiment to objectively assess computational methods for predicting the phenotypic impacts of genomic variation.
Interpretation of genetic variants plays an essential role in cancer, in monogenic disease, and increasingly in complex trait disease. Needs for variant interpretation span from basic research labs to informing profound clinical decisions. CAGI establishes objective reference standards on how well current computational methods do—and do not—meet clinical and research requirements. As such, CAGI enables appropriate use of methods and promotes the development of improved approaches.
ASHG: What are your career goals?
Dr. Andreoletti: My long-term career goal is to set up an independent laboratory in Italy. Currently, whole-exome and -genome sequencing is not widely used in Italy as a clinical tool and I would like to establish a clinical laboratory to provide such service. Moreover, I aspire to organize outreach activities to promote genomics education.
ASHG: Why did you choose genetics as your field of study?
Dr. Andreoletti: I have been interested in biology and genetics since high school. Therefore, I decided to study biology for my undergraduate degree. Since I wanted to work at the forefront of this cutting-edge field, I learned how to program and honed my interest in genomics. I enjoy working in this field because it allows me to interact and collaborate with a diverse community of skilled individuals (e.g., clinicians, laboratory scientists, and patient advocates). The field of “big data” is now evolving rapidly, providing insights into the genetic basis of many monogenic diseases, complex trait diseases, and cancer.
ASHG: Describe yourself in three words.
Dr. Andreoletti: Effervescent, Italian, and Ambitious.