Professor Kerstin Lindblad-Toh is the Uppsala Director of Science for Life Laboratory (SciLifeLab) and the Scientific Director of Vertebrate Genome Biology at the Broad Institute, a collaborative academic research institute at Massachusetts Institute of Technology (MIT) and Harvard University. With experience from one of the world’s largest multidisciplinary research platforms, Lindblad-Toh continues to develop new collaborative projects in SciLifeLab.
Kerstin Lindblad-Toh explains that her vision for future research projects in Uppsala is largely formed and shaped by her experience from her previous work at the Broad Institute. “The Broad Institute has access to outstanding technology platforms that offer opportunities to conduct large-scale analysis in several areas. This is combined with a multidisciplinary research programs with scientists from different fields and countries. SciLifeLab has the same ambition, in a way”.
Just like Broad Institute, the success of SciLifeLab is based on having access to advanced technology platforms as well as a good environment for interdisciplinary collaboration. “Our platforms at SciLifeLab Uppsala have performed over 1,000 projects since its inception. Here in Uppsala alone, we are 800 scientists divided on roughly 165 research groups with connections to SciLifeLab. And we are continuously expanding. This is something unique, something extremely valuable to the Swedish life science sector”.
Looking at mutations of relevance to human disease
In her own research, Kerstin Lindblad-Toh uses comparative genetic models to identify disease genes in both animals and humans. “Domestic animals, and especially domestic dogs, are of particular interest as they live in the same environment as us and have roughly the same gene content. It is not too surprising that they get the same kind of diseases as we do. In addition, the breed structure makes it easier to find disease genes. My research group has developed the tools that we need in order to find disease genes and mutations of relevance to human disease”.
The research group has during the last years been able to map genes for both monogenic and complex diseases such as Amyotrophic Lateral Sclerosis (ALS), Obsessive Compulsive Disorder, and Cardiomyopathy”. The research has identified novel genes and pathways that are important for the disease in dogs, but which also may play a role in the corresponding human disease.
“After finding canine genes in breast cancer, thyroiditis and Systemic Lupus Erythematous (SLE), we are now examining the same genes in human patients, and hope to gain an increased understanding of which genes drive the development of the disease in different patient groups ”.
SciLifeLab and Broad Institute in ongoing collaboration
Lindblad-Toh’s research group in Uppsala has developed advanced targeted sequencing technologies, which they apply in collaboration with the genomics platform at SciLifeLab. The comparative genomics work is part of an ongoing collaboration with the Broad Institute in order to find functional elements in the human genome and that of model organisms. This includes analysis of 29 mammalian genomes to identify common constraint elements, of which two-thirds fall outside coding genes. These elements regulate when and where proteins are turned on in our body and are likely to contain most mutations relevant to common diseases.
“If we can understand the human genome better, and find the genes and pathways that contain mutations for specific disease, we may well be able to develop better diagnostics and treatment for disease in the future. This is why we conduct this type of research”, Kerstin Lindblad-Toh explains.