co-ordinator
professor LEENA PELTONEn-palotie
 | GenomEUtwin - project's co-ordinatig center is National Public Health Institute, Finland and the project is co-ordinated by Professor Leena Peltonen-Palotie (CV). She has studied gene defects in multiple human diseases for the past 25 years. Her group has positioned over 20 disease loci to restricted chromosomal regions and, via positional cloning strategy, successfully identified over 10 disease genes and characterized their function. In diseases such as aspartylglucosominuria (AGU), a lysosomal accumulation disease, and neuronal ceroid lipofuscinoses (NCL), a severe children’s brain disease, her group has carried on research bridging from novel methods of DNA-diagnostics for identified disease mutations to detailed analyses of the three-dimensional structure of affected protein, as well as consequences of mutations to cellular transport and processing and to tissue-specific symptoms in knock-out mice. Dr. Peltonen is a forerunner in the use of isolated populations in disease gene identification. Finland’s genetically isolated population has facilitated identification of genes of several dieases. Her group has mapped disease loci including predisposing loci in multiple sclerosis, schizophrenia, and familial combined hyperlipidemia and identified the causative variant in lactose intolerance. These genes are not unique to the Finnish population, since encouraging findings for the same loci have also been reported from more mixed populations -- these genes are simply easier to identify in population isolates. |
contact info
Co-Ordinating Center's mail address:
National Public Health Institute
Department of Molecular Medicine (KTL, MLO)
Po.Box 104 00251 Helsinki
Finland
Visiting address:
Biomedicum, Haartmaninkatu 8 (Meilahti area).
Instructions for visiting Biomedicum
fax: +358-9-47448480
Co-ordinating Staff
Scientific Secretary for the GenomEUtwin:
Dr. Markus Perola -reporting, EU contacts, meetings
e-mail: markus.perola@ktl.fi, phone +358-40-8612557
Economic Secretary for the GenomEUtwin:
Ms. Helena Knuuttila -financial matters
e-mail: helena.knuuttila@ktl.fi, phone +358-9-47448273
PA to Professor Peltonen:
Ms. Tuija Svahnbäck -Dr. Peltonen's calendar etc.
e-mail: tuija.svahnback@ktl.fi, phone +358-9-47448272