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General information:
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BIOCENTRUM HELSINKI RESEARCH GROUPS
The current Biocentrum Helsinki groups carry out research in the Faculties of Medicine, Biological and Environmental Sciences, and at the Institute of Biotechnology. The main emphasis of the work performed in Biocentrum Helsinki is devoted to cell and molecular biology, cancer biology, molecular neurobiology, developmental biology, human molecular genetics, plant biotechnology, structural biology and biophysics, systems biology, and bioinformatics.
The current Biocentrum Helsinki groups appointed for 1.1.2011-31.12.2013 are:
Biotechnology and Bioinformatics
Sampsa Hautaniemi:
ComputationalSystemsBiology Group; Integration and analysis of large-scale biomedical data
short description and contact information
Liisa Holm:
Elucidating functional correlates from sequence and structure
short description and contact information
Olli Kallioniemi: home page: http://www.fimm.fi/en/research/research_groups/kallioniemi_group//
Cell and Molecular Biology
Eeva-Liisa Eskelinen:
Membrane dynamics in autophagy, functions of lysosomal membrane proteins
short description and contact information
Mikko Frilander:
Genome-wide functions of the U12-spliceosome
short description and contact information
Elina Ikonen:
Intracellular Cholesterol Transport; Development of New Imaging Techniques to Study Cholesterol Cell and Tissue Biology
short description and contact information
Olli A. Jänne:
Genome-wide Androgen Action and Biology of SUMOylation
short description and contact information
Pekka Lappalainen:
Regulation of actin and plasma membrane dynamics in cell migration and morphogenesis
short description and contact information
Tomi Mäkelä:
Cancer-relevant kinases
short description and contact information
Timo Otonkoski:
Biomedicum Stem Cell Center; Human pluripotent stem cells for biomedical research
short description and contact information
Jussi Taipale:
Growth control and cancer
short description and contact information
Developmental Biology
Jukka Jernvall:
Evolution and Development Research; Developmental phenomics of mammalian dentition
short description and contact information
Irma Thesleff:
Regulation of ectodermal organ development
short description and contact information
Macromolecular Structure and Biophysics
Dennis Bamford:
Virus Universe; from theoretical considerations to practical applications
short description and contact information
Sarah Butcher:
Macromolecular structure and assembly
short description and contact information
Mårten Wikström:
Structures and molecular mechanisms in primary biological energy transduction
short description and contact information
Molecular Cancer Biology
Kari Alitalo:
New biological functions and therapeutic potential of vascular endothelial growth factors
short description and contact information
Akseli Hemminki:
Oncolytic adenoviruses
short description and contact information
Molecular Genetics
Lauri A.Aaltonen:
Tumor Genomics Group
short description and contact information
Ilkka Hanski:
Genetics and genomics of natural populations
short description and contact information
Irma Järvelä:
Gene-culture co-evolution in music
short description and contact information
Juha Kere:
Immune-mediated complex disorders: From genetics to molecular biology
short description and contact information
Hannes Lohi:
Canine models of human inherited disorders
short description and contact information
Päivi Peltomäki:
Hereditary Cancer; Epigenetic mechanisms of predisposition to common human cancers
short description and contact information
Molecular Neuroscience
Kai Kaila:
Anion-regulatory proteins and GABAergic transmission in neuronal development, plasticity and disease
short description and contact information
Mart Saarma:
Signalling, Biology and Therapeutic Potential of Neurotrophic factors
short description and contact information
Anu Wartiovaara:
Mitochondrial dysfunction in neurodegeneration
short description and contact information
Plant Biotechnology and Molecular Biology
Yrjö Helariutta:
Functional genomics of organogenesis in plants
short description and contact information
Jaakko Kangasjärvi:
Plant Stress Research; Reactive Oxygen Species as signaling substances in plant stress acclimation
short description and contact information
Tumor Genomics Group
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Lauri Aaltonen
M.D., Ph.D.
Academy Professor
Genome Scale Biology Research Program & Department of Medical Genetics
Biomedicum Helsinki
P.O. Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel. 358-9-191 25595
Fax 358-9-191 25105
e-mail: lauri.aaltonen -at- helsinki.fi
home page: http://research.med.helsinki.fi/gsb/aaltonen/ |
The research of the group focuses on human tumor susceptibility. Particular focus of interest has been hereditary colorectal cancer, where the group has contributed to several key discoveries; see the link for selected publications. Molecular background events in microsatellite unstable colorectal cancer is one of our long term interests. We have also identified and characterized a novel cancer predisposition syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC), and with our collaborators identified the gene behind the condition as fumarase (see publications). More recently we have identified germline mutations in the AIP gene in pituitary adenoma predisposition, published in Science 2006, and subsequently developed molecular tools for diagnosis of the condition. The most recent gene discovery relates to the molecular basis of common colorectal cancer predisposition; we have contributed to identification of the respective genetic loci, as well as to mechanistic studies to unravel the biological basis of such predisposition.
The current focus is in utilizing registry-based approaches to identify unique cancer family materials, for sequencing based analysis and disease gene identification. Finland provides excellent resources for this work, and an effort to systematically utilize the National Cancer Registry (operating since 1953) and Population Registry databases in cancer gene identification is in progress. We also contribute to characterization of colorectal cancer and uterine leiomyoma genomes by whole genome sequencing. Thus our work ranges from epidemiology and genealogy to molecular work, and meaningful analysis and interpretation of the massive amounts of data derived is a key interest area for us.
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New biological functions and therapeutic potential of vascular endothelial growth factors
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Kari Alitalo
M.D., Ph.D.,
Academy professor
Molecular Cancer Biology Research Program
Biomedicum Helsinki
University Of Helsinki
P.O.B. 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Phone: +358-9-191 25511
FAX: +358-9-191 25510
E-mail: Kari.Alitalo -at- Helsinki.FI
home page:
http://research.med.helsinki.fi/cancerbio/alitalo/ |
| Novel therapies are urgently needed for cancer and cardiovascular diseases that are the leading causes of morbidity and mortality in the western world. Inhibition of angiogenesis is already used in cancer treatment, with limited success. Stimulation of the growth of blood vessels, angiogenesis, and of (collateral) arteries, has been unsuccessfully tried for the treatment of cardiovascular diseases. Our aim is to reveal new disease-related functions of endothelial growth factors and their signal transduction in cancer and cardiovascular diseases and to establish preclinical models of effective therapy based on new knowledge of the biology of angiogenesis and lymphangiogenesis.
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Virus Universe; from theoretical considerations to practical applications
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Dennis Bamford
Professor
Institute of Biotechnology and Department of Biosciences
P.O. Box 56 (Viikinkaari 5)
FI-00014 University of Helsinki, Finland
tel +358-9-191 59100
E-mail: dennis.bamford -at- helsinki.fi
homepage: http:// www.helsinki.fi/virres |
We investigate viruses containing protein, nucleic acid and lipid
constituents that infect prokaryotic (bacterial and archaeal) hosts.
These viruses are used as model organisms in understanding structure,
assembly and function of biological macromolecular complexes. These
studies have also shed light on the evolution and origin of viruses.
We propose that seemingly unrelated viruses infecting hosts in all
three domains of life may have a common origin.
Furthermore, we have a keen interest in elucidating the structure and
function of RNA-dependent RNA polymerases originating from dsRNA
bacteriophages. Such polymerases, in addition to providing insight
into the mechanisms of initiation, elongation and termination of the
polymerization reaction, are valuable tools in biotechnology due to
their capacity to produce dsRNA of practically unlimited length or
amount for gene silencing.
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Macromolecular Structure and assembly
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Sarah Butcher
Professor
Academy of Finland Centre of Excellence in Virus Research (2006-2011)
Structural Biology and Biophysics Program
Institute of Biotechnology
P.O.Box 65 (Viikinkaari 1)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59563
Fax +358-9-191 59930
E-mail: sarah.butcher -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/butcher |
Our work aims to understand the structure, assembly and function of
biological macromolecule complexes using cryo-electron microscopy
integrated with other approaches such as X-ray crystallography,
biochemistry and genetics. Our major interests are the structural basis
of virus assembly, replication, host recognition and entry. Currently we
are studying: capsid structure and host cell recognition by
picornaviruses, archaeal and dsRNA viruses. The results may have
implications in the prevention of viral diseases.
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Membrane dynamics in autophagy, functions of lysosomal membrane proteins
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Eeva-Liisa Eskelinen
PhD, University Lecturer
Faculty of Biological and Environmental Sciences
Department of Biosciences
P.O.Box 56 (Viikinkaari 9)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59566
Fax +358-9-191 59068
E-mail: eeva-liisa.eskelinen-at-helsinki.fi
home page: http://www.helsinki.fi/biosciences/biochemistry/eskelinen
TUHAT home page: https://tuhat.halvi.helsinki.fi/portal/en/persons/eevaliisa-eskelinen%28f08cf28b-cbdb-4e20-913a-149ca6ab8906%29.html |
Our research concentrates on the lysosomal system in mammalian cells. We have two major interests: the membrane dynamics in mammalian macroautophagy and the functions of lysosomal membrane proteins. Macroautophagy is a pathway were cells deliver cytoplasmic material, including organelles, to lysosomes for degradation. This process provides nutrients during starvation and recycles non-functional organelles and aggregate-prone proteins. In particular I am interested in the biogenesis of autophagosomes, and in the role of the small GTP binding proteins during their maturation. The lysosomal membrane contains a specific set of proteins that were originally thought to serve a mere structural role. However, our findings have revealed that these proteins possess specific functions in vesicular traffic and lipid transport. We are investigating the roles of the lysosomal membrane protein LAMP-2 in autophagy and intracellular cholesterol traffic.
Microscopical techniques are a major tool in our research. I have extensive experience in electron microscopy, including immuno electron microscopy, quantitative electron microscopy, and electron tomography.
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Genome-wide functions of the U12-spliceosome
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Mikko Frilander
PhD, Group Leader
Institute of Biotechnology
Developmental Biology Research Program
P.O.Box 56 (Viikinkaari 9)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59509
Fax +358-9-191 59366
E-mail: mikko.frilander -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/SPLICING/ |
Our research focus on regulation of gene expression at the level of RNA
processing. Most of our research concentrates on the U12-dependent
spliceosome, in particularly the assembly and regulation of this
parallel spliceosome. We use various methods in RNA biology and
biochemistry, but various genome-wide methods, in particularly deep
sequencing and bioinformatics will be important for our future research.
Recently we have described an ultraconserved feedback mechanism that is
conserved from humans to plants, which will be one of the key interests
of our future research.
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Genetics and genomics of natural populations

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Ilkka Hanski
Research professor
Metapopulation Research Group
Department of Biosciences
P.O. Box 65 (Viikinkaari 1)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 57745
mobile: +358 40 734 2788
E-mail: ilkka.hanski -at- helsinki.fi
home pages: http://www.helsinki.fi/~ihanski
http://www.helsinki.fi/science/metapop |
The general aim of this research is to develop the well-studied metapopulation of the Glanville fritillary butterfly into a comprehensive model system for population and evolutionary biology research by developing molecular genetic and genomic tools and approaches. The aim is to integrate genetic and genomic studies with long-term ecological studies, and to address research questions spanning all the way from the molecular level to the organismal level and to natural populations. Because of the scale and the nature of the project, the current and near future efforts are focused on developing tools such as the genome sequence and structure, algorithms and programs for analyses, data bases and pipe-lines and platforms for DNA extraction and SNP genotyping. In 2-3 years time the focus will shift towards the analyses of genetic and genomic data in the relevant population biological context.
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ComputationalSystemsBiology Group; Integration and analysis of large-scale biomedical data

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Sampsa Hautaniemi
D.Tech., Docent
Academy Researcher
Genome Scale Biology Research Program
& Institute of Biomedicine
Biomedicum Helsinki
P.O. Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 25419
mobile: +358 40 734 2788
E-mail: sampsa.hautaniemi -at- helsinki.fi
home page: http://www.ltdk.helsinki.fi/sysbio/csb/ |
We develop and apply computational tools to translate biomedical data into knowledge. With the advance of novel measurement technologies, such as microarrays, quantitative mass spectrometry, deep-sequencing and automated microscopes, computational methods have become a crucial part of bioresearch. Indeed, a typical cancer research project can easily result in more than 100 million data points. Translation of such large amount of data into novel hypotheses and medical benefits require professional bioinformaticians and specialized software tools. Recently we integrated multidimensional molecular (SNP, exon, gene expression, array-CGH and microRNA platforms) and clinical data from 338 subjects having glioblastoma multiforme, one of the deadliest and most poorly understood cancers, and revealed novel glioblastoma multiforme associated genes and genetic loci that have significant survival effect. All methods and software implemented in our group are freely available.
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Functional genomics of organogenesis in plants
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Yrjö Helariutta
PhD, Professor, Research Director
Department of Biological and Environmental Sciences,
Institute of Biotechnology
P.O.Box 65 (Viikinkaari 1)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59422
Fax +358-9-191 59366
E-mail:yhelariu -at- mappi.helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/Helariutta/
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| The aims of our research are to produce basic biological information on organogenesis of plants using effective model systems, and to apply the knowledge, in the long run, to develop forest trees superior in their properties. Goals are to understand the function of genes and gene networks in the process of vascular development in Arabidopsis, as well as floral development and phenolic secondary metabolism in Gerbera, and apply them to forest tree species (birch and spruce) in order to identify candidate key genes that are responsible for wood growth and quality.
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Oncolytic adenoviruses
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Akseli Hemminki
MD, PhD, K. Albin Johansson Research Professor (Finnish Cancer Institute)
Cancer Gene Therapy Group
Molecular Cancer Biology Program & Transplantation Laboratory
Biomedicum Helsinki
P.O.Box 63
FI-00014 University of Helsinki, Finland
(street address: Haartmaninkatu 8, 00290 Helsinki)
Tel: +358-9-191 25464.
Fax: +358-9-191 25465
e-mail: akseli.hemminki -at- helsinki.fi
Home page http://www.hi.helsinki.fi/cgtg |
Work in the Cancer Gene Therapy Group focuses on utilization of viruses for gene therapy of cancer and other disease that are currently difficult to treat curatively. Most of the work involves developing and improving oncolytic viruses as anticancer therapeutics. The emphasis is on translating the most promising preclinical approaches into treatments for patients. Immunotherapy and cancer stem cells are also priority areas in CGTG.
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Elucidating functional correlates from sequence and structure
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Liisa Holm
PhD, Professor
Institute of Biotechnology & Department of Bioscience
P.O. Box 65 (Viikinkaari 5)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59115
Fax +358-9-191 59366
E-mail: liisa.holm -at- helsinki.fi
home page: http://ekhidna.biocenter.helsinki.fi/ |
The complete genomic sequence of over a hundred organisms, including several higher eukaryotes, has been determined. We develop and use a wide range of computational tools to make sense of this book of life. The overall goal is to model evolutionary relationships in sequence and structure data and to elucidate their functional correlates. Genome annotation is a particular application.
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Intracellular Cholesterol Transport; Development of New Imaging Techniques to Study Cholesterol Cell and Tissue Biology
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Elina Ikonen
MD, PhD, Academy Professor
Institute of Biomedicine, Anatomy
Biomedicum Helsinki
P.O. Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 25277
Fax +358-9-191 25261
E-mail: elina.ikonen -at- helsinki.fi
home page: http://www.biomed.helsinki.fi/research/cholesterol |
The complete genomic sequence of over a hundred organisms, including several higher eukaryotes, has been determined. We develop and use a wide range of computational tools to make sense of this book of life. The overall goal is to model evolutionary relationships in sequence and structure data and to elucidate their functional correlates. Genome annotation is a particular application.
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Evolution and Development Research; Developmental phenomics of mammalian dentition
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Jukka Jernvall
PhD, Academy Professor
Institute of Biotechnology
P.O. Box 56 (Viikinkaari 9)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59352
E-mail: jukka.jernvall -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/evodevo/index.shtml |
The research of the group focuses on using mammalian dentition to link development and evolution. Methodologically we develop various systems biology approaches to link ‘vertically’ several organizational levels. These methods include quantitative developmental biology methods and bioinformatics tools to the problem of how changes in the process of developmental produce small changes in the phenotype. We develop computational models to study the properties of signaling networks and perform in silico predictions that can be tested using experimental studies. All these approaches can and have been applied to different model systems.
The future focus is to understand the cellular limits of patterning, how to incease phenotypic complexity, and how to quantitatively control the tooth phenotype. We are developing the MorphoBrowser database to allow many of the advances in phenoinformatics to be accessed remotely.back to top |
Genome-wide Androgen Action and Biology of SUMOylation
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Olli A. Jänne
M.D., Ph.D.
Director, Biomedicum Helsinki
Professor of Medical Sciences
University of Helsinki
P. O. Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel. +358-9-191 25040
GSM +358-50-554 4610
Fax. +358-9-191 25047
E-mail: olli.janne -at- helsinki.fi
home page: http://www.helsinki.fi/science/arlab/ |
High androgen receptor (AR) level in primary tumor predicts increased prostate cancer-specific mortality, but the mechanisms that regulate AR function in prostate cancer are poorly known. We address various aspects of AR signaling in prostate cancer cells by using genome-wide approaches. In particular, we characterize the importance of other DNA-binding transcription factors for localization of AR-binding sites on chromatin and androgen-dependent transcription programs. In addition, we address genome-wide cross-talk between AR and other nuclear receptors, such as the glucocorticoid and vitamin D receptors. The results are anticipated to offer new opportunities for therapeutic intervention in prostate cancer.
Another line of research addresses the importance of protein SUMOylation in the control of inflammation, metabolism and cell growth. SUMOylation is a dynamic process involving the covalent attachment of SUMO to target proteins, such as nuclear receptors. The SUMO family consists of three related paralogues, but their distinct physiological roles are currently unknown.
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Gene-culture co-evolution in music
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Irma Järvelä
M.D., Ph.D.
Professor of Molecular Genetics
Department of Medical Genetics
Biomedicum Helsinki
University Of Helsinki
P.O.B. 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel. +358-50 544 7030
Email: irma.jarvela -at- helsinki.fi
home page: http://www.helsinki.fi/haartman/lgo/tutkimus/music/index/ |
The major goal of our interdiscplinary research project is to promote innovation and cooperation between art and science. We aim to understand the biological underpinnings of music in human behavior by utilizing the modern methods of molecular and statistical genetics and bioinformatics to identify molecules associated with music perception and practice. The strengths of the study are the unique Finnish family resource and details about their musical aptitude and life-time practices in music.
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Anion-regulatory proteins and GABAergic transmission in neuronal development, plasticity and disease
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Kai Kaila
Professor
Department of Biological and Environmental Sciences & Neuroscience Center
P.O.Box 65 (Viikinkaari 1)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59860
Fax +358-9-191 59810
E-mail: kai.kaila -at- helsinki.fi
home page: http://www.helsinki.fi/neurobiology/ |
Our research has focused on the role of ion-regulatory proteins in the control of neuronal excitability at the molecular, single-cell, network and in vivo levels. Our recent findings include the following:
The neuronal chloride extruder KCC2, a key molecule in GABAergic inhibition and dendritic spine formation, is upregulated following neonatal seizures, which is opposite to seizure effects in the mature brain. Our data point to striking age-dependent differences in molecular mechanisms controlling the trafficking and functionality of KCC2.
The neuronal carbonic anhydrase isoform 7 (CA7) has turned out to be a key molecule in seizure generation and a putative anticonvulsant drug target. We have previously shown that experimental febrile seizures (FS) are caused by respiratory alkalosis. Consistent with this, FS cannot be evoked in a novel CA7 KO mouse.
In a novel rodent model of birth asphyxia, in vivo pH recordings have revealed a prolonged post-asphyxic rise in both intra- and extracellular brain pH. The birth-asphyxia seizures can be suppressed by preventing the alkalosis. A retrospective clinical study on post-asphyxic babies is in progress.
We have shown that 5% CO2 is a potent anticonvulsant in adult animal models and human epilepsy patients, with potential for clinical use.
Our novel EEG techniques permit long-term monitoring of full-band EEG (Fb-EEG) activity in the neonatal intensive care unit, enabling a comparison of animal models and human neonates.
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Plant Stress Research; Reactive Oxygen Species as signaling substances in plant stress acclimation

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Jaakko Kangasjärvi
PhD, Professor of Plant Biology
Division of Plant Biology, Department of Biosciences
Viikki Biocenter
P.O.Box 65 (Viikinkaari 1)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59444
Fax +358-9-191 59552
E-mail: jaakko.kangasjarvi -at- helsinki.fi
home page:
http://www.helsinki.fi/biosci/plantstress/research
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Our work combines plant physiology with genetics and molecular biology and concentrates on finding out how plants sense and transmit stress signals at the cellular level.
The primary focus is on understanding the signaling networks involving reactive oxygen species (ROS) such as hydrogen peroxide, superoxide, singlet oxygen and hydroxyl radical. ROS are produced by plant cells in a variety of situations: An active burst of ROS production is a common link between nearly all biotic and abiotic stresses including ozone and pathogens but ROS also play important roles during development. Previously thought to be merely damaging agents, ROS are now understood for their roles as signaling molecules.
We utilize a variety of genetic strategies with the model plant Arabidopsis thaliana. We use forward genetics screens as a strategy to dissect ROS signalling pathways at the genetic level. To this end, we have isolated a collection of ROS sensitive mutants. This has resulted in the isolation and cloning of novel regulators of ozone, ROS, and stomatal responses.
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Susceptibility Genes in Immune-Related Disorders
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Juha Kere
MD, PhD
Professor of Molecular Genetics
Department of Medical Genetics,
University of Helsinki and
Department of biosciences and Nutrition,
Karolinska Institutet, Stockholm
Email: juha.kere -at- biosci.ki.se,
juha.kere -at- helsinki.fi
home pages: http://www.ktl.fi/diseasegenetics/Group_Kere
_Eng.htm http://research.med.helsinki.fi/molmed/Groups/
Kere/kere_main.htm |
| We aim at breakthroughs in understanding the biological basis of complex immune-mediated disorders, in particular asthma, celiac disease, inflammatory bowel disease (IBD), systemic lupus erythematosus (SLE) and psoriasis. We continue our efforts to identify susceptiblity genes relevant for the development of celiac disease, psoriasis and SLE. The combined groups of Kere and Saavalainen benefit from strong experience in genetics and immunology as well as good clinical collaborations and sample resources.
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Regulation of actin and plasma membrane dynamics in cell migration and morphogenesis
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Pekka Lappalainen
Ph.D.
Professor , research director
Institute of Biotechnology
P.O. Box 56 (Viikinkaari 9)
FI-00014 University of Helsinki, Finland
Tel. 358-9-191 59499
Fax 358-9-191 59366
e-mail: pekka.lappalainen -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/lappalainen/ |
Coordinated polymerization of actin filaments against cellular membranes provides force for a number of biological processes, including cell morphogenesis, motility, endocytosis, and phagocytosis. In addition, actin filaments together with myosin filaments form contractile structures in muscle and non-muscle cells. Recent studies have revealed that abnormalities in actin-dependent processes, including cell motility and cytokinesis, often occur in cancer cells, and that many pathogens exploit the actin polymerization machinery of the host cell during the infection process. Thus, elucidating the mechanisms of actin dynamics will also be valuable for understanding these actin-dependent pathological states.
Our laboratory uses a wide range of biochemical, cell biological, and genetic methods to reveal how the structure and dynamics of the actin cytoskeleton are regulated during various cellular and developmental processes. We also aim to elucidate how membrane phospholipids regulate actin dynamics, and how the I-BAR domain family proteins deform PI(4,5)P2-rich membranes to coordinate actin and plasma membrane dynamics during cell motility and morphogenesis. back to top |
Canine models of human inherited disorders

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Hannes Lohi
PhD, Professor in Veterinary Molecular Genetics, Director of the Program for Molecular Medicine
Department of Veterinary Biosciences
Faculty of Veterinary Medicine
Program for Molecular Medicine
Research Programs Unit, Faculty of Medicine
Folkhälsan Institute of Genetics
Biomedicum 1, Room C323b
P.O.Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
phone +358-9-191 25085
fax +358-9-191 25073
Email: hannes.lohi -at- helsinki.fi
Homepage:
http://www.koirangeenit.fi |
My research focuses on the canine models of human complex diseases. This novel approach takes advantage of an experiment initiated by man 15,000 years ago, taming of the wolf and, more recently, generating 400 strictly inbred pure dog breeds. Canine purebreeding has resulted in highly uniform genomes within each breed, in which the “noise” of background genetic variation is reduced making it easier to detect genetic “signals” that contribute to disease. As a result 10 to 100-fold fewer individuals are needed in canine studies than in human studies to map genes for the same polygenic trait. That information alone would not be very helpful without the fact that several of the essential components of morphological, behavioral and disease phenotypes can be found and measured in dogs. Dogs develop biologically analogous, if not homologous in some cases, conditions to human disorders including idiopathic epilepsies, ataxias, various anxieties such as fears/phobias and obsessive-compulsive disorder (OCD), eye disorders and many developmental problems which are all actively being investigated in my laboratory.
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Cancer-relevant kinases
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Tomi Mäkelä
MD, PhD
Director, Professor
Co-Director, Genome-Scale Biology Program
P.O.Box 56, Institute of Biotechnology
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59359
Fax +358-9-191 59366
E-mail:tomi.makela -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/makela/ |
Signaling in pathways and in larger networks typically involves sequential activation of kinases phosphorylating substrates and thus relaying and amplifying signals, which ultimately modulate transcriptional responses in target gene sets. Our longstanding interest is to characterize such pathways and to understand the mechanisms involved in mediating the transcriptional responses and how these are deregulated in human cancer - with a current focus on LKB1 and CDK7 kinases implicated in cancer and aging.
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Biomedicum Stem Cell Center; Human pluripotent stem cells for biomedical research
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Timo Otonkoski
M.D., Ph.D.
Professor
Molecular Neurology Research Program & Children’s Hospital
Biomedicum Helsinki
P.O.Box 63 (Haartmaninkatu 8)
FI-00014, University of Helsinki, Finland
Tel. 358-9-191 25692
e-mail: timo.otonkoski -at- helsinki.fi
home page http://research.med.helsinki.fi/neuro/Otonkoski/ |
The group focuses on human pluripotent stem cells. One major aim is to develop approaches for disease modelling based on induced pluripotent stem cell (iPSC) technology. The group has shown that current methods of nuclear reprorramming are associated with frequent DNA copy number changes (published in Nature, 2011). Research associated with the human iPS cell Core Facility aims at more efficient methods of reprogramming, while allowing the maintenance of genetic integrity. The group specializes on endodermal differentiation of the stem cells. Major focus is on pancreatic endocrine cells, while also other endodermal lineages, such as hepatocyte and gut specification are studied. The group collaborates with many clinical investigators, aiming to reveal disease mechanisms through stem cell differentiation.
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Hereditary Cancer; Epigenetic mechanisms of predisposition to common human cancers
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Päivi Peltomäki
MD, PhD, Professor in Biomedical Cancer Research
Department of Medical Genetics, Haartman Institute
P. O. Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel. +358-9-191 25092
FAX +358-9-191 25105
E-mail: paivi.peltomaki -at- helsinki.fi
Home page: http://www.helsinki.fi/haartman/lgo |
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We focus on the interplay between genetic and epigenetic factors in familial and sporadic forms of common human cancers. Somatic inactivation of tumor suppressor genes frequently occurs by promoter methylation and in familial cancers follows tissue-specific patterns similar to sporadic cancers. Analysis of serial specimens of histologically normal tissue, premalignant lesions, and cancer for promoter methylation shows patterns that can be used to predict malignant transformation. Supported by the European Research Council, studies are in progress to dissect the critical steps in colorectal tumorigenesis taking advantage of human and mouse models. Occasionally, promoter methylation underlies constitutional silencing of tumor suppressor genes (e.g., the DNA mismatch repair gene MLH1), which predisposes the affected individuals to early-onset colorectal and endometrial cancer. A majority of familial colorectal and endometrial cancers still remain without a known predisposition, and studies are underway to identify the predisposing defects, genetic or epigenetic, in such families.
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Signalling, Biology and Therapeutic Potential of Neurotrophic factors
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Mart Saarma
PhD, Academy Professor
Centre of Excellence in Molecular and Integrated Neuroscience Research
Laboratory of Molecular Neuroscience
Institute of Biotechnology
P.O.Box 56 (Viikinkaari 9)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59378
Fax +358-9-191 59366
E-mail: mart.saarma -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/saarma/
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The group is investigating signaling, biology and therapeutic potential of the new neurotrophic factor CDNF that they discovered. Main focus is to find the receptor for CDNF, elucidate its mode of action and develop CDNF-based drug for the treatment of PD. The group is also investigating signaling and biology of GDNF family ligands. They discovered a novel receptor for GDNF and developed GDNF and its receptor GFRa1 conditional knockout mice.
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Growth control and cancer
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Jussi Taipale
Ph.D.
Academy Professor
Director, High Throughput Center
Genome-Scale Biology Program
Institute of Biomedicine, University of Helsinki
Department of Molecular Medicine
National Public Health Institute (KTL)
Biomedicum, Rm B526b
P.O. Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
p. +358-9-191 25556
fax +358-9-191 25554
Email: Jussi.Taipale -at- Helsinki.Fi
home page: http://research.med.helsinki.fi/gsb/taipale |
| Systems biology is a new approach to studying complex biological phenomena. It seeks to integrate high-throughput biological studies to understand how biological systems function. The ultimate goal is to develop a model of the system by studying the relationships and interactions between components of the system. A system can be defined as a disease state and genes involved in the development of that state. Systems biology will increase the power of genetic studies aimed at identification of genes causing multigenic diseases, and pave the way towards application of targeted and personalized medicine. Our main disease model is cancer, and the current lines of work in the laboratory aim to determine the mechanisms by which oncogenes and growth factors control cell proliferation.
Cancer is a multigenic disease which can be caused by mutations in > 300 genes. These mutations cause cancer cells to escape from the mechanisms normally regulating proliferation and differentiation. Despite this genetic heterogeneity, all cancers share common phenotypes (e.g. uncontrolled cell division). To understand cancer, we must identify both the genes causing cancer and the genes controlling the common phenotypes, and subsequently understand how the cancer genes control the activity of the cell cycle genes.
For this purpose, we have in collaboration with Kimmo Palin and Esko Ukkonen (UH Dept. of Computer Science) developed computational methods which can identify genes whose expression is controlled by transcription factors linked to cancer. These computational methods allow determination of expression patterns of genes from genomic sequences. We are currently in the process of developing this technology further to predict which variations of sequence (e.g. SNPs) between individuals result in changes in gene expression, and are therefore more likely to cause disease states, including cancer.
To determine which of the predicted target genes affect cell proliferation, we are combining the computational analyses with experimental results from genome-wide RNA-interference analyses identifying genes regulating cell proliferation and cell size. We are currently extending these studies to systematically analyze the genetic and biochemical interactions between the identified genes and proteins.
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Regulation of ectodermal organ development
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Irma Thesleff
DDS, PhD
Professor, Research Director
Research Program in Developmental Biology
Institute of Biotechnology
P.O.Box 56 (Viikinkaari 9)
FI-00014 University of Helsinki, Finland
Tel.+358-9-191 59401
Fax +358-9-191 59366
E-mail: irma.thesleff -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/thesleff/ |
We explore the mechanisms that regulate the formation of ectodermal organs, including teeth, hairs and glands. We focus on signalling networks mediating intercellular communication, and examine how they regulate the patterns, numbers, sizes, and shapes of organs. We use mouse models and organ culture techniques to analyse the functions of conserved signal pathways including FGF, TGF, Hedgehog, Wnt and Ectodysplasin (Eda). Some of the mice are models for human syndromes such as ectodermal dysplasias and tooth agenesis. Our particular interest is the formation of placodes initiating the development of all ectodermal appendages. We have shown that Wnt signal activation in the ectoderm induces the formation of extra placodes resulting in continuous tooth formation, and extra whiskers and hairs. Several mouse models are currently used to examine the modulation of Wnt signaling and the integration of Wnt, Eda and the other conserved pathways. We are also focusing increasingly in the mechanisms of tooth regeneration and continue studies on epithelial stem cell regulation in a stem cell niche which we discovered in teeth. The results may have clinical implications in the diagnosis, prevention and treatment of congenital defects as well as in the design of regenerative therapies. back to top |
Molecular basis of mitochondrial dysfunction in human diseases
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Anu
Suomalainen Wartiovaara
MD PhD
Sigrid Juselius Professor of Clinical Molecular Medicine
Research Program of Molecular Neurology
r. c523B P.O.Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel. +358 9 471 71965
Fax +358 9 471 71964
E-mail anu.wartiovaara -at- helsinki.fi
Home page: http://research.med.helsinki.fi/neuro/
Wartiovaara/default.htm |
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Mitochondrial dysfunction has shown out to be a common cause on human inherited disease, with amazing clinical variability, from neonatal fatal multisystem disorders to diabetes, neurodegeneration, dysfertility or tumorigenesis of adult age. Mitochondrial disorders are typically progressive with little means of effective treatment. Our research group focuses in clarifying the molecular basis of mitochondrial disorders, with a special emphasis on neurodegeneration. We search for disease genes in human sample materials, characterize disease phenotypes, create disease models based on identified gene defects and utilize these models to study molecular pathogenesis and to test potential treatments.
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Structures and molecular mechanisms in primary biological energy transduction
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Mårten Wikström,
MD, PhD
Professor, Research Director
Institute of Biotechnology
Structural Biology and Biophysics Research Program
PO Box 65 (Viikinkaari 1)
FI-00014 University of Helsinki, Finland
Tel. +358-9-191 58000
Fax +358-9-191 58001
E-mail: marten.wikstrom -at- helsinki.fi
home page: http://www.biocenter.helsinki.fi/bi/hbg/wikstrom/wikstrom_home.html |
| We elucidate the mechanisms of electron and proton transfer in the mitochondrial respiratory chain at the atomic level, using time-resolved biophysical technology and bacterial homologues of respiratory complexes that are amenable to site-directed mutagenesis. Complex I (NADH- ubiquinone reductase) and Complex IV (cytochrome c oxidase) are currently our main targets of research. Malfunction of these complexes cause so-called mitochondrial diseases, and Complex I is the main producer of reactive oxygen species in cells.
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