Pharmacogenomics of antithrombotic drugs

Jaakko Lähteenmäki and Mark van Gils (Teknologian tutkimuskeskus VTT Oy)

Antithrombotic drugs are used in the context of clinical conditions (e.g. atrial fibrillation) and procedures (e.g. valve operations) to prevent thrombosis. Based on earlier studies the antithrombotic drug response varies between individuals based on genotype.  This may lead to a higher risk of bleeding or thrombosis related to the drug therapy.

The objective of this study is to assess the relevance of using genotype data in the context of antithrombotic drug therapy. The study aims to provide evidence on the known genotype associations of drugs in the Finnish population and to investigate the benefit of using genotype data in guiding the drug therapy.

IndiviStatB1: Perinnöllisten tekijöiden vaikutus statiinien tehoon ja siedettävyyteen

Mikko Niemi (University of Helsinki and HUS)

The aim of the study is to evaluate how genetic variation affects the efficacy and tolerability of statins.



Päivi Lähteenmäki, Andreina Kero and Liisa Järvelä (Turku University Hospital)

The aim of the study is to investigate cardiovascular morbidity and mortality in patients diagnosed with cancer below the age of 35 in order to develop adequate guidelines for follow-up depending on individual treatments and individual risk factors. This could possibly prevent adverse outcomes and detect cardiac risk factors in the early stages when intervention can still be effective.


Juvenile arteriosclerosis

Ilkka Kaitila and Mikko Mäyränpää (University of Helsinki and HUSLAB)

The aim of our study is to describe the clinical picture, heritability, prevalence, histological and immunopathological findings, molecular genetic etiology and pathogenesis of juvenile arteriosclerosis (JAS). The results of the study enable molecular genetic testing and genetic counselling patients with JAS and their families, detect the pathogenetic mechanisms and potentially, help in developing effective treatment options for cardiovascular diseases. As a part of the study around 200 different tissue samples from healthy control subjects will be used.


WHO project: A comprehensive molecular characterization of hematologic malignancies

Sirpa Leppä (HUS) and Dave Sandeep  (Duke University, USA)

The aim is to comprehensively elucidate the molecular basis of the 91 distinct WHO-defined entities of lymphoid and myeloid malignancies. The tissue samples will be studied using molecular data combined with clinical information. The results of the study will help to identify biologically relevant genomic aberrations and signaling pathways in lymphoma entities, delineate underlying mechanisms for poor responses and/or resistance to therapies, contribute to prognosis,and may lead to more effective treatment strategies and novel therapeutic targets. This is a collaborative project that will include 20 institutions world-wide.


Molecular genetics of sporadic venous malformations and targeted therapy

Johanna Laakkonen (University of Eastern Finland)

The aim of the study is to identify causative genes and molecular pathways of venous malformations (VM) in order to develop novel therapy approaches for VMs by targeted small molecular drugs.


Cardiac manifestations in hereditary gelsolin amyloidosis (AGeI) – a retrospective autopsy study

Sari Atula, Sari Kiuru-Enari, Maarit Tanskanen and Eeva-Kaisa Schmidt (University of Helsinki and HUS)

The aim of the study is to get information on the histological changes, that possibly could cause cardiac symptoms, in the heart muscle tissue of hereditary gelsolin amyloidosis (AGeI) patients.

Novel diagnostic tools to improve diagnosis of primary hyperaldosteronism.

Niina Matikainen (HUS)

The long-term goal of this project is to improve the biochemical, radiological and histological diagnostic accuracy of primary hyperaldosteronism, the most prevalent and potentially curable cause of hypertension and cardiovascular morbidity. 


Aivojen pienten suonten tauti - RCT valmius

Susanna Melkas et al. (HUS)

Cerebral small vessel disease (SVD) is recognized as a major vascular contributor to dementia especially among elderly people. We have information on the expression of an advanced SVD. However, information is needed on the early signs and clinical identification of an SVD hazard and the progression of the disease.

Päivitetty  28.2.2019