Archive Page: Professor Leena Peltonen

Professor Leena Peltonen

This page is being maintained as a historical record of research conducted at the Institute. It has not been updated since 2010.

Leena was the Board of Management representative for the area of Human Genetics. Sadly, Leena died on 11 March 2010. (Read obituary)

Leena graduated with an MD (1976) and PhD (1978) from the University of Oulu, Finland.

Following a postdoctoral fellowship at Rutgers Medical School, New Jersey, USA, she returned to Finland with posts at the University of Oulu (Associate Professor) and the University of Helsinki (Senior Scientist of the Academy of Finland). From 1987 she established molecular genetic research in the National Public Health Institute, Finland, where she was recruited as the Head of the Laboratory of Molecular Genetics followed by a professorship in Molecular Biology (1991-1995) and in Medical Genetics (1995-1998).

Leena was a founder and the Gordon and Virginia MacDonald Distinguished Chair of the Department of Human Genetics at University of California Los Angeles (1998-2002). In 2003 she obtained an Academy Professorship, the highest recognition of the excellence in research in Finland. She was the Director of the Center of Excellence in Disease Genetics of the Academy of Finland (2000-date) and the Coordinator of the (Nordic Center of Excellence in Disease Genetics (2004-date). From 2005 Leena was a visiting Professor at the Broad Institute, MIT, Harvard, Boston, USA. In 2007 she was recruited to lead the human genetics efforts of the Wellcome Trust Sanger Institute.

During her career she served on many national and international bodies, including as Chairman of the European Medical Research Council (1996-8), President of the Human Genome Organization (2005-7), on the Board of Directors of the American Society of Human Genetics (2001-4), President of the European Society of Human Genetics (2004-5) and as member of the Scientific Board of European Research Council (2005-date).

Selected Publications

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies. Komulainen K, Alanne M, Auro K, Kilpikari R, Pajukanta P, Saarela J, Ellonen P, Salminen K, Kulathinal S, Kuulasmaa K, Silander K,Salomaa V, Perola M and Peltonen L. PLoS genetics 2006;2;5;e69. PUBMED: 16699592; PMC: 1458962; DOI: 10.1371/journal.pgen.0020069

PRKCA and multiple sclerosis: association in two independent populations. Saarela J, Kallio SP, Chen D, Montpetit A, Jokiaho A, Choi E, Asselta R, Bronnikov D, Lincoln MR, Sadovnick AD, Tienari PJ, Koivisto K, Palotie A, Ebers GC, Hudson TJ and Peltonen L. PLoS genetics 2006;2;3;e42. PUBMED: 16596167; PMC: 1420678; DOI: 10.1371/journal.pgen.0020042

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L and Kestilä M. Nature genetics 2006;38;2;155-7. PUBMED: 16415886; DOI: 10.1038/ng1714

Classical twin studies and beyond. Boomsma D, Busjahn A and Peltonen L. Nature reviews. Genetics 2002;3;11;872-82. PUBMED: 12415317; DOI: 10.1038/nrg932

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y and Peltonen L. American journal of human genetics 2002;71;3;656-62. PUBMED: 12080485; PMC: 379202; DOI: 10.1086/342259

Identification of a variant associated with adult-type hypolactasia. Enattah NS, Sahi T, Savilahti E, Terwilliger JD, Peltonen L and Järvelä I. Nature genetics 2002;30;2;233-7. PUBMED: 11788828; DOI: 10.1038/ng826

Genomics and medicine. Dissecting human disease in the postgenomic era. Peltonen L and McKusick VA. Science (New York, N.Y.) 2001;291;5507;1224-9. PUBMED: 11233446

Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Paloneva J, Kestilä M, Wu J, Salminen A, Böhling T, Ruotsalainen V, Hakola P, Bakker AB, Phillips JH, Pekkarinen P, Lanier LL,Timonen T and Peltonen L. Nature genetics 2000;25;3;357-61. PUBMED: 10888890; DOI: 10.1038/77153

Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. Pajukanta P, Terwilliger JD, Perola M, Hiekkalinna T, Nuotio I, Ellonen P, Parkkonen M, Hartiala J, Ylitalo K, Pihlajamäki J, Porkka K,Laakso M, Viikari J, Ehnholm C, Taskinen MR and Peltonen L. American journal of human genetics 1999;64;5;1453-63. PUBMED: 10205279; PMC: 1377884; DOI: 10.1086/302365

Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Pajukanta P, Nuotio I, Terwilliger JD, Porkka KV, Ylitalo K, Pihlajamäki J, Suomalainen AJ, Syvänen AC, Lehtimäki T, Viikari JS,Laakso M, Taskinen MR, Ehnholm C and Peltonen L. Nature genetics 1998;18;4;369-73. PUBMED: 9537421; DOI: 10.1038/ng0498-369