Submitted by Steven E. Brenner on
Genome sequencing technologies are beginning to assist clinicians in the detection and diagnosis of various human diseases as part of the larger personalized medicine paradigm. In our lab, we analyze genomic data from newborns screened for severe combined immunodeficiency (SCID), a rare but life-threatening disorder in which infants appear healthy at birth, yet lack the adaptive immunity provided by T and B lymphocytes. In several cases, the SCID screening is inconclusive, leaving newborns without a proper diagnosis.
This project involves analyzing whole exome/genome sequencing data from these newborns to identify the causative genetic mutations and precisely diagnose their disorders. Starting from millions of distinct mutations found in an individual’s DNA, the challenge is to develop methods to cull a handful of genes and mutations that can explain the individual newborn’s clinical features. Strategies exist for narrowing the list using existing information such as the mutations’ rarity, effect on protein function, inheritance pattern, and predicted pathogenicity. However, an accurate, generalizable, and automated framework for prioritizing genes and mutations for a given phenotype is an active area of research. The undergraduate researcher will work with existing members in the Brenner Lab to implement and refine a generalizable framework for diagnosis of newborn immunodeficiencies using genomic data.
You will work closely with Brenner Lab PhD candidate Andrew Sharo to implement and refine a generalizable framework for diagnosis of newborn immunodeficiencies using genomic data.
Qualifications: The student should have a keen interest in bioinformatics and should be familiar with at least one programming language. Applicants with a GPA less than 3.6 will be considered only in exceptional circumstances. The student must be able to attend 3-hour lab meeting every week, attend a subgroup meeting every week, adhere to other lab policy (including weekly notebooks to track research, semester reports) and register for credits, regardless of their program-specific requirements. Our lab is interdisciplinary, and we want to get a holistic picture of your background, so please include your unofficial transcript with your application.