Biobank research

The Blood Service Biobanks field of research is health promotion through studies that prevent diseases and identify disease mechanisms.The Biobank also specialises in transfusion medicine from both the donor’s and the patient’s perspective.

Biobank materials are only released to high-quality health promoting research purposes. The scientific, technological and ethical level of the research projects is carefully assessed before the release of biobank materials.

Biobank research projects

Thymus – T cell development in the thymus

(Kekäläinen Eliisa, 2024)

The aim of the project is to study how T-cells develop in the thymus. T-cells play a key role in the immune defence against cancer, but their dysfunction can lead to autoimmune disease or immunodeficiency. The research aims to understand how to better measure the function of the thymus and what factors may be causing autoimmune diseases or immune deficiencies.

The knowledge generated by this research will help to advance our understanding of the pathogenesis of autoimmune diseases. By studying the function of the thymus using different measures, the adverse effects of drugs used to treat autoimmune diseases can be better assessed and prevented, as medication can be more precisely adjusted to individual needs. A better understanding of T-cell development will help to get to the root causes of immunological disorders and contribute to their prediction and prevention.

Identifying resistance mechanisms and improving the patients’ response to immunotherapies in head and neck squamous cell carcinoma

(Al-Samadi Ahmed, 2024)

Immunotherapy has been recently approved for treating head and neck squamous cell carcinoma (HNSCC), however, it is primarily used for palliative treatment due to a low response rate. Therefore, there is an unmet need for a better understating of the mechanisms negatively interfering with immune effector cell function to improve the patient selection for immunotherapy.

This project aims to: (I) determine the underlying mechanisms negatively interfering with immune effector cell function and apply this knowledge for identifying biomarkers for patients’ response to immunotherapy; (II) optimize an in vitro microfluidic chip assay for personalized testing of immunotherapy; (III) Identify the mechanism used by IDO1 inhibitor to activate CD4+ T cells and enhance their migration towards cancer cells and IV) Investigate the gene expression profile of circulating neutrophils in HNSCC patients, compare them with healthy individual and validate differentially expressed molecules. The project will directly impact society through improved treatment and patient outcomes.

Returning genetic information to blood donors – evaluation of experience

(Clancy Jonna, 2024)

Around 70 000 blood donors have joined the Blood Service Biobank by providing a written consent. In addition to the biobank consent, the donors’ are also asked for their consent to be contacted by the biobank, if the biobanking process reveals some information relevant to the persons health. Almost all (99.5%) sample donors have expressed their wish to receive information on findings relevant to their health in the consent form.

Information on genetic susceptibility to the iron accumulation disease, haemochromatosis, with the homozygous HFE C282Y allele has been returned from the Blood Service Biobank to the biobank donors. The Blood Service is conducting a survey to explore (i) donors’ experience of receiving genetic information relevant to their health, and (ii) the effectiveness of returning the genetic information in promoting health.

Analysis of plasma glycoproteomics in healthy blood donors

(Renkonen Risto, 2024)

Blood (plasma) glycoproteomics is gradually gaining relevance as a disease biomarker and target for therapeutic intervention in various inflammatory and malignant diseases. One of the main obstacles so far has been the lack of good normal values for age- and sex-dependent expression of plasma glycoprotein glycosylation in healthy individuals. The research project apply a state-of art glycoproteomics analysis pipeline, that they have developed over the last 15 years to analyse the glycosylations of most abundant glycoproteins in plasma. The study will provide comprehensive information on age and sex differences in plasma glycoproteins and define age and sex-specific normal values for healthy individuals for use in future patients. This data set will be very valuable as a comparison to several other studies related to various patient cohorts.

SNP-HLA Reference Consortium (SHLARC)

(Vince Nicolas, 2023)

SHLARC illustrates the modern shift of precision medicine towards genomics and computationally intensive data analyses for applications in health care and research. Human leukocyte antigens (HLA) are the main contributors to many inflammatory and autoimmune diseases.

The project aims to accelerate HLA biomedical research on diseases by developing a bioinformatic solution to determine HLA alleles. Data provided by FRC Blood Service Biobank is used as a part of a large multi population reference panel, which will increase the amount of immunogenetic data available both in terms of quantity and diversity to better understand immune-related diseases.

Detection of clonal hematopoiesis in autoimmune diseases and in hematological malignancies

(Myllymäki Mikko, 2023)

Clonal hematopoiesis (CH) refers to detection of a mutated bone marrow hematopoietic stem cell clone without diagnosis of a hematological disease. CH is common in older individuals and is associated with shorter life expectancy as well as increased cardiovascular disease risk due to enhanced proinflammatory signaling. The convergent inflammatory phenotype warrants studies to understand the clinical connection between CH and human health. This study investigates the spectrum and prevalence of CH in patients with rheumatoid arthritis and diffuse large cell B-cell lymphoma compared to healthy blood donors.

Genetic profile of blood donor biobank

(Partanen Jukka, 2022)

Blood donors have been suggested to be an excellent option for large cohorts of healthy individuals as blood donors voluntary and frequently donate blood. Based on interviews blood donors are known to have a positive attitude towards scientific research and for use of their donated samples for research if not needed for patient care.

The blood donor population, however, is highly selected due to accumulation in the blood donor pool of individuals with a very good health. This healthy donor effect, an example of what is often referred to as a membership bias, may lead to confounding effects.

To understand better the actual usefulness of blood donor-based biobank in genetic studies we will evaluate occurrence and geographical distributions of common and rare genetic variants in the Blood Service Biobank. In addition, occurrence of variants putatively enriched or missing from blood donor population, such as hemochromatosis or thrombocytopenia related variants, will be evaluated.

Utilisation of HLA types imputed from genotypes in blood donation

(Linjama Tiina 2022)

Each year in Finland, an average of 20–25 new patients are admitted to hospital who require repeated platelet transfusions, but have poor responses to standard platelet products. This poor response may be the result of extensive HLA immunisation. These patients can be helped by individually selecting platelet donors against whose HLA-A and HLA-B antigens the patient does not have antibodies.

The aim of the study is to find out whether blood donors’ HLA data derived from the Blood Service’s biobank data can be utilised in the targeted recruitment of new HLA-typed blood donors. If this is successful, blood donors that are optimal with regard to HLA, such as HLA-A and/or HLA-B homozygous blood donors, could be recruited as platelet donors more efficiently.

The efficacy of  immunotherapy testing in HLA-matched immune-organoids

(Cerullo Vincenzo, 2022)

Cancer immunotherapy has evolved into a powerful cancer treatment modality during the past decade. The specificity and memory of the immune system can be harnessed against cancer cells to achieve durable treatment with minimal toxicity. The aim of the research is to develop complex immune organoids as platforms to validate the efficacy and specificity of immunotherapies, including therapies PeptiCRAd and PeptiVAC which are oncolytic viruses coated with tumor specific peptides.

Tumor organoids will be cultured from biopsies or resected tumor tissue with tumor stroma and HLA-matched immune cells. We analyse the ligandome/immunopeptidome of the tumors and based on this information, design personalized treatment platforms. These complex HLA-matched immune organoids can be utilized to predict ex vivo, a patient’s sensitivity to immunotherapies, and to design novel therapeutic strategies, which can be used to create both tumor-and patient-specific treatments.

Determination of blood group factors from the genomic data of the Blood Service’s Biobank blood donors

(Haimila Katri, 2022)

The objective of the study is to find blood donors who have a rare blood group or blood group combination by utilising the genomic data of donors who have joined the Blood Service’s Biobank. This genomic data allows us to identify donors with rare blood groups and blood group combinations more effectively than with routine blood group determination methods and thus to increase the number of donors with rare blood groups to the benefit of patients. Donors’ blood group factors are determined in blood donation to ensure safe blood transfusion treatment for patients.

Iron Levels and Health in Finnish blood donors and general population

(Arvas Mikko, 2021)

Every year, about 120,000 Finns donate blood. Blood donation is safe and carefully monitored, but as nearly half a litre of blood is donated each time, there are naturally effects on human physiology. Previous research on the effects of blood donation on health has produced some conflicting results, for example concerning the risk of heart disease. Our aim is to investigate the connection between iron levels and health among blood donors and the Finnish general population using currently available cohort material.

Evaluation of Gene Expression and Chromatin Accessiblity for PBMCs from Individuals with a Specific Genotype

(Pendergrass Sarah, 2021)

Genetic variation at single locations in the genome can have a functional impact, resulting in differences in how proteins are made, and how many proteins. We have identified a genetic variant that may be impactful in human health, however we need to perform experiements to determine whether or not this genetic variation has an actual functional impact.

By using peripheral blood cells, we will evaluate whether or not there is a difference in gene expression and genomic behavior when cells from individuals with this genotype are exposed to different stimuli. Understanding whether or not there is an impact, and what gene expression networks are impacted if the variant is functional, will provide important insights into further study of this genomic region.

The nature of nurture: the interplay between genetic and the social environment in impacting health

(Andrea Ganna, 2021)

Health outcomes are determined by a complex interplay between genetic (nature) and environmental (nurture) factors. Socio-economics factors are among the most well-established health-related environmental risk factors. It is therefore important to understand how both nature and nurture impact health.

In this project we will explore the interplay between genetic endowments and socio-economic conditions in shaping health outcomes in life. In particular, we focus on three thematic areas: Education and health outcomes; income and health inequality; employment/labor market and health. This project will provide novel information on how genetic endowment towards health conditions is balanced by socio-economic factors and will improve our knowledge of which social interventions can help reducing the disease burden in Finland.

Identification of novel immune mechanism by Single cell RNA sequencing using primary immune cells

(Virtakoivu Reetta, 2021)

This project aims to identify gene signatures and changes in gene expression which might regulate the immune cell response to a new or known therapeutic treatments. Different immune cell populations will be isolated from collected blood samples and cultured in laboratory conditions with different treatments. These cells will serve as an important research material helping us to unravel essential research questions and potentially quides us for design of future studies.

The effects of rare Finnish gene variants on the function of blood cells

(FinnGen, 2021)

The FinnGen study has identified a number of potentially interesting gene variants that are particularly prevalent in Finland. Their prevalence in Finland is partly the result of the country’s settlement history and they are therefore very rare elsewhere. This means they can only be properly investigated in Finland.

The FinnGen study will receive samples collected by the Blood Service Biobank from 2,500 blood donors. These are plasma and serum samples as well as cell samples from a white blood cell component separated from whole blood. The samples will be used to investigate the effects of gene variants on the function of blood cells.

The aim of the study is to increase understanding of the significance of gene variants that are particularly prevalent in Finland in relation to disease prevention and susceptibility.

The significance of genetic background for the function of Natural Killer cells

(Kerkelä Erja, 2020)

Novel treatment strategies are still required for the treatment of malignant haematological conditions such as various types of leukaemia. This research project seeks to develop a new therapeutic approach that uses the intrinsic ability of so-called Natural Killer (NK) cells to destroy abnormal cells in the body, such as cancer cells or cells infected by a virus.

This novel cell therapy is being developed jointly by Helsinki University Hospital and the Finnish Red Cross Blood Service. The project will assess how donors’ genetic makeup (genes) influences the activity, and thus the effectiveness, of NK cells. The results will allow us to find out whether there are interpersonal differences in NK cell activity that could be used in cell therapy, for example by selecting the NK cells best suited for a specific patient.

The following specimens and information will be collected during the project: Cell specimens isolated from excess products will be investigated to assess their genetic makeup, the expression of some genes and proteins related to the function of NK cells and other cells participating in the body’s immune defence, and the cells’ immunological properties under laboratory conditions.

Subjects’ blood samples will also be analysed for antibodies against cytomegalovirus (CMV). The majority of Finns experience an asymptomatic CMV infection during their lifetime. This infection is known to influence the function of NK cells. The subjects’ genetic background information will be retrieved from the Blood Service Biobank.

Blood donor genome data as a Finnish reference cohort in genetic studies

(Partanen Jukka, 2020)

The project uses genome data from healthy blood donor as a population control in studies where results from patients are compared with those from healthy individuals. The project includes many patient cohorts from Finland. For example two studies focusing on the kidney disease research led by Helsinki University Hospital have utilized this genome data as a population control.

Serum-based early diagnostics in head and neck cancer

(Silén Suvi, 2020)

Head and neck squamous cell carcinomas (HNSCC) account for more than half a million cases annually worldwide. Almost half of these patients will succumb to their disease in the first 5 years – despite the given treatment. Most HNSCCs leading to death are diagnosed in a clinically advanced stage and thus early detection of these tumours would be critical in trying to improve the prognosis and survival.

Although both surgical and oncological treatments for HNSCC have developed during the past decades, their associated morbidity is high. Earlier detection of the tumors would thus diminish not only mortality but also morbidity of these cancers. At the moment, no blood biomarkers for the detection of early HNSCCs without clinical signs exist.

By applying the detailed analyses of serum proteins as well as glycosylated proteins followed by novel in silico tools for data interpretation, we aim to learn more of head and neck cancers pathogenesis as well as to find potential future diagnostic biomarkers to identify tumours at their early stage.

After identifying candidates in our high-end mass spectrometry work, we plan to develop more robust methods for larger validation series in patients, aiming to verify these candidate markers. Finally, we aim to launch clinically useful and validated diagnostic methods to be used at University Hospital Laboratory HUS Diagnostics Center (HUS Diagnostiikkakeskus).

FRCBS Blood donation research project: Genetics of Blood Donation

(Arvas Mikko, 2020)

The Blood Service recruits volunteers to donate blood. It is responsible for ensuring safe blood transfusions and minimising any adverse effects on donors due to blood donation. By investigating the effects of regular blood donations on blood donors, the Blood Service produces scientific data on the health effects of blood donation and aims to minimise its adverse effects on donors.

In this project, the Blood Service combines blood donors’ genomic data with their blood donation data, such as haemoglobin levels, blood donation rejections and any adverse effects of the donation, to investigate their potential genetic background.

The prevalence of hepatitis E among Finnish blood donors and assessment of blood-borne transmission risk

(Ekblom-Kullberg Susanne, 2020)

The aim of the study is to produce information about the prevalence of hepatitis E among Finnish blood donors and to assess the blood-borne risk of transmission of the virus in Finland. A quantitative HEV RNA nucleic acid amplification test using the Procleix HEV method will be performed on 23,000 plasma samples obtained from blood donors via the Blood Service Biobank.

Later, VIDAS HEV IgG and IgM antibody tests will be performed on the RNA-positive samples. In addition, hepatitis E antibodies will be examined from 1,000 samples. The level of viremia and the HEV genotype will be determined from the RNA-positive samples.

The results of prevalence and incidence studies will be utilised to assess the risk of hepatitis E transmission via blood products in Finland. The results will be used in risk-based decision-making on the need for HEV RNA testing among blood donors.

Functional genomics approaches and biomarker discovery to enhance cancer immunotherapy

(Mustjoki Satu, 2019)

New molecules are needed to improve the efficiency of cancer therapies. This study aims at finding new immune resistance mechanisms in cancer and thus to identify new target molecules for medicinal agents with which to further improve anticancer immunotherapy.

The study utilises modern, extensive functional genomics screening methods. It is also intended to screen new biomarkers which can be used to target therapies at those patient groups that benefit from immunotherapies.

The role of systemic mechanisms resulting in oxidation-reduction state imbalance in metabolic and neurodegenerative conditions

(Wartiovaara Anu, 2019)

Vitamin B3 balance is a target of great international interest and drug development, as its tissue form NAD has been associated with longevity and prevention of illness. Illnesses consume NAD inside tissues, but the resulting deficiency can be treated with so-called NAD boosters. If there is no deficiency, treatment can even be harmful, so a test is needed to measure subjects’ vitamin B3 levels.

There are currently no methods available to determine vitamin B3 and NAD types from easily accessible sample sources such as blood. NAD types regulate tissue-related repair, energy production and growth, so they are vital for our well-being. Based on clinical and pre-clinical information, NAD deficiency and/or imbalance are associated with energy metabolism disorders, ageing and tissue loss due to cancer.

The aim of this project is to present a new approach that will measure NAD types from blood and thus facilitate the identification of those patients who need booster treatment.

Using genomic data in the Blood Service: determining blood cell antigens from genomic data

(Ritari Jarmo, 2018)

Certain molecules (blood cell antigens) present on the surface of blood cells may cause a harmful immune response in the body, for example following a blood transfusion. Patients with rare blood groups need suitable donors in order to avoid complications. Blood cell antigens are genetically determined and can thus be deduced on the basis of genomic data.

This project aims to apply mathematical methods to determine blood cell antigens using genomic data. The genomic data used will be retrieved from the Blood Service Biobank material to be analysed in the FinnGen project.

Using existing genomic data to pre-screen for donors with rare blood groups will make it easier to identify suitable donors, and the project will generate new information on the hereditary aspects of blood group antigens in the Finnish population.

The FinnGen study

(FinnGen, 2017)

The FinnGen study is an extensive research project with both public and private sector involvement and with participants from Finnish universities, hospital districts, the Finnish Institute for Health and Welfare (THL), several international pharmaceutical companies and Finnish biobanks.

The Blood Service Biobank also participates in the FinnGen study. The main aim of the FinnGen study is to combine genomic, health and blood donation data in order to improve understanding of pathological mechanisms.

Person handling Blood Service Biobank samples in a laboratory.

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