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GENETIC RESEARCH OF
COMPLEX DISEASES
Identifying susceptibility genes for complex diseases
Our group has for ten years been focusing on the genetic mapping and positional
cloning of susceptibility genes for common, complex disorders.
There is very strong research strategic and methodological synergy between such
genetics projects, even though the diseases under study represent different
physiological disturbances and organ systems. Starting with collaboration with
competent clinical scientists, we ascertain data and
samples from families with disease cases. We combine genotyping, DNA sequencing,
bioinformatics, genomics, biochemistry and epidemiology to identify genes,
proteins and biochemical pathways that are causally involved
in disease pathogenesis.
We work on two campuses in tight collaboration. The group at Karolinska
Institutet, Huddinge, Sweden, was established in 2001 and belongs to the
Department of Biosciences and Nutrition, with a genotyping Core Facility at
Clinical Research Centre. The group at University of Helsinki, Finland,
exists since 1993 and is part of the Center of Excellence for Disease Genetics
at University of Helsinki and Biocentrum Helsinki.
During the past five years, we have made important progress in the following
fields:
- 2001: we identified chromosome 7 as a susceptibility region in human asthma
(Laitinen et al. Nature Genetics 28:87-91, 2001).
- 2003: we presented the first candidate gene for dyslexia (specific reading
disability), DYX1C1 on chromosome 15 (Taipale et al. PNAS 100:11553-8,
2003).
- 2004: we discovered GPRA (GPR154) as a susceptibility for asthma on the
chromosome 7 region mapped earlier (Laitinen et al. Science 304:300-304, 2004).
- 2005: we discovered that ROBO1, an axon guidance receptor gene, is a candidate
gene for dyslexia on chromosome 3 (Hannula-Jouppi et al. PLoS Genetics 1:e50,
2005). This paper was cited among the Breakthroughs of the year by Science
(310:1881-2, 2005). |
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Representative papers 2001-2006:
Laitinen T, Daly MJ, Rioux JD, Kauppi P, Laprise C, Petäys T, Green T,
Cargill M, Haahtela T, Lander ES, Laitinen LA, Hudson TJ, Kere J. A
susceptibility locus for asthma-related traits on chromosome 7 revealed
by genome-wide scan in a founder population. Nature Genet 28:87-91, 2001
Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen
H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J. A
candidate gene for developmental dyslexia encodes a nuclear
tetratricopeptide repeat domain protein dynamically regulated in brain.
Proc Natl Acad Sci USA 100:11553-11558, 2003
Laitinen T, Polvi A, Rydman P, Vendelin J, Pulkkinen V, Salmikangas P,
Mäkelä S, Rehn M, Pirskanen A, Rautanen A, Zucchelli M, Gullstén H,
Leino M, Alenius H, Petäys T, Haahtela T, Laitinen A, Laprise C, Hudson
TJ, Laitinen LA, Kere J. Characterization of a common susceptibility
locus for asthma-related traits. Science 304:300-304, 2004
Hannula-Jouppi K, Ahola N, Taipale M, Eklund R, Nopola-Hemmi J,
Kääriäinen H, Kere J. The axon guidance receptor gene ROBO1 is a
candidate gene for developmental dyslexia. PLoS Genetics 1:e50, 2005
Schumacher J, Anthoni H, Dahdouh F, König IR, Hillmer AM, Kluck N,
Manthey M, Plume E, Warnke A, Remschmidt H, Hülsmann J, Cichon S,
Lindgren CM, Propping P, Zucchelli M, Ziegler A, Peyrard-Janvid M,
Schulte-Körne G, Nöthen MM, Kere J. Strong genetic evidence of DCDC2 as
a susceptibility gene for dyslexia. Am J Hum Genet 78:52-62, 2006 |
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