Chris Carr ‘12 recently presented a paper entitled Autism Candidate Genes via Mouse Phenomics at the 2011 AMIA Summit on Translational Bioinformatics (TBI 2011) in San Francisco, California. The summit involved a range of lectures and panels that highlighted the latest developments in biomedical informatics research and clinical care. Carr’s submission was selected as one of the top for TBI 2011, and is eligible for inclusion as an open-access publication in the Journal of Biomedical Informatics.
Chris Carr ‘12 with his research mentors (from left to right) Dr. Judith Blake, Dr. Terry Meehan, and Dr. Alexander Diehl at The Jackson Laboratory in Maine.
The paper is the result of Carr’s experience with a research program at The Jackson Laboratory in Bar Harbor, Maine. The lab is involved in genetics research to prevent, treat, and cure human diseases. The Jackson Laboratory uses mice as a primary research tool, since mice and human beings share 95% of their genes.
Recognizing that autism spectrum disorders (ASD) are the fastest growing group of serious developmental disabilities in the United States, Carr focused his work on enhancing the Mouse Genome Informatics (MGI) coverage of mouse models relating to ASD. MGI, the primary community model organism database for the laboratory mouse, is tasked with capturing mouse models of human disease.
“Despite intensive work to represent all disease alleles known in the laboratory mouse, many of these models are not included in the MGI database,” says Carr. “By using genes currently associated with ASD as input into bioinformatics tools such as Phenologs, Mousenet, and the Ontological Discovery Environment, I was able to create a list of candidate genes to conduct an in-depth review on and double the number of genes associated with ASD in MGI’s database.”
Carr’s research may also serve to predict novel candidate genes as the list generated has significant overlap with a large set of genes recently implicated in ASD due to small, rare copy number variations. Ultimately, by identifying the pathways that genes associated with ASD are involved in, he will be able to predict potential mouse models of these disorders for future experimentation.
Carr, a native of Greenville, North Carolina, is majoring in biological sciences with a concentration in integrated physiology and neurobiology, along with a second major in psychology. He is the co-founder of the North Carolina State University chapter of Health Occupations Students of America, and serves as a College of Agricultural and Life Sciences ambassador and a Park Scholarships Civic Engagement Initiatives mentor.
“As a Park Scholar, there have been numerous opportunities that have allowed me to grow and develop into a leader,” says Carr. “The greatest thing that I have gained as a Park Scholar has been the will to give my absolute best in everything that I do. This quality has been instilled in me from the many wonderful people that I have met through the Park program.”
After graduation, Carr plans on attending medical school to complete a M.D./Ph.D. program. He intends to carry with him a quote by Park Faculty Scholar Dr. Clifford Griffin, an associate professor in the Department of Political Science: “Don’t let victory be stolen by the joys of defeat.”