Neuroscience Center and Folkhälsan Institute of Genetics
P.O. Box 63, FI-00014
University of Helsinki
Fax: +358-9-191 25073
The research of Anna-Elina Lehesjoki Group aims at understanding the molecular basis of specific human inherited disorders through mapping and cloning of the underlying defective genes, followed by functional analyses of the gene products utilizing cellular and animal models. This will form the basis for the development of rational methods for prevention and treatment of these disorders.
Our past achievements include identification of the genes underlying Progressive myoclonus epilepsy (EPM1), Northern epilepsy (CLN8), Mulibrey nanism (MUL), Cohen syndrome, Marinesco-Sjögren syndrome, and variant late-infantile NCL (CLN7). Of these, we have proceeded to functional analyses in EPM1, CLN8, and MUL.
As another important line of research, the group aims to identify genes underlying more common forms of idiopathic epilepsy, including susceptibility genes for epilepsy phenotypes with complex inheritance. New epilepsy genes will be identified through linkage analysis of rare, dominantly inherited variants of these epilepsies, followed by positional candidate gene analysis through sequencing of functional candidates and through association-based analyses. We participate in the EU-funded EPICURE consortium.
The laboratory is situated in the Folkhälsan Research Center in Biomedicum Helsinki. The group belongs to the Center of Excellence in Complex Disease Genetics of the Academy of Finland, the Research Program for Molecular Medicine and Biocentrum Helsinki, University of Helsinki.