The Project
Disease gene mapping and functional genomics in the domestic dog
Winner
Dr. Kerstin Lindblad-Toh
Uppsala University
Uppsala Biomedicinska Centrum
Husargatan 3, C1, 4th floor
751 23 Uppsala
Sweden
http://www.imbim.uu.se/index.html
http://www.broad.mit.edu/
Kerstin Lindblad-Toh, 37 year-old dual Swedish-American citizen, is a guest professor at the Department of Medical Biochemistry and Microbiology at Uppsala University and co-director of the Genome sequencing and analysis programme at the Broad Institute of MIT and Harvard. She completed her PhD in medical genetics at the Karolinska Institute in 1998 following a Svenska Institutet scholarship for research abroad. She is a reviewer for a number of journals including Nature and Genome Research, and has led several animal genome sequencing consortia, most of which aim to understand the human genome.
Project Description
The domestic dog encompasses hundreds of genetically isolated breeds, many of which show an increased risk for certain diseases. With the availability of the canine genome sequence, understanding of the canine genome structure, and availability of disease gene mapping tools, we are now in a unique position to map canine disease genes to inform human biology and medicine.
Lindblad-Toh’s research program has four major components:
1) Characterization of disease phenotypes, breed predisposition and sample acquisition - Our main focus is on cancer, but the program also includes autoimmune disease, monogenic disorders, epilepsy, neurodegenerative disease, and behavior;
2) Generation of tools and strategies for canine disease gene mapping;
3) Identification and functional characterization of disease genes;
4) Characterization of disease genes in human patients - Many diseases have a correspondence in humans. When canine disease genes have been identified we will collaborate with clinicians and human geneticists to survey applicable human patient populations for mutations in the same genes or pathways.
