Biopankkitutkimukset

Toward improved outcome in T-cell lymphomas by personalizing the diagnostics and treatment

(Outi Kuittinen, University of Eastern Finland)

Anaplastic large cell lymphoma is a rare T-cell lymphoma subtype. Currently most patients are treated with autologous stem cell transplantation (ASCT), although its exact value in disease control is not known. Optimal treatment as well as the prognostic value of chromosomal abnormalities is unknown. Aim of the present study is to evaluate prognostic value of chromosomal translocations and mutational profile in order to enable the choice of optimal treatment to patients. We also aim to find new potential therapeutic targets in this disease.

Artificial intelligence in predicting genetic changes and cancer prognosis in digital pathology

(Noora Neittaanmäki / Sahlgrenska University Hospital)

The increasing cancer incidence is causing a significant burden and diagnostic delays at pathology laboratories. This project aims to develop and validate artificial intelligence (AI) in computational pathology for enhanced cancer diagnostics. Several thousand unidentified whole slide images of primary tumors and metastases will be collected to develop and test AI algorithms. Integrating AI into digital pathology has the potential to reduce the workload on pathologists, minimize inter-observer variability, uncover novel histopathological features, and enhance diagnostic accuracy. The integration of AI in digital pathology holds the potential to alleviate the workload and shorten the diagnostic delays. The use of AI could reveal novel histopathological features not seen by the naked eye such as genetic changes and prognostic factors. Our hypothesis posits that AI could predict the likelihood of metastatic disease from primary tumors, which would revolutionize cancer diagnostics and enable early adjuvant treatment for patients even before metastases manifest. Due to the high costs of molecular genetic analyses, a large portion of patients are not routinely profiled. The development of alternative screening tools capable of detecting mutations quickly and cheaply on digitalised routine stained pathology slides could save costs and enable personalized cancer care for wider patient population.

Proteomic analysis of exosomes from healthy and Parkinson’s disease patient samples

(Eleanor Coffey / Åbo Akademi University/Turku Bioscience Centre)

Parkinson’s disease (PD) is a multisystem disorder, with 10 million worldwide. There is no cure and only symptomatic treatment exists. The motor symptoms are due to loss of brain neurons. However, PD also affects peripheral organs, gut and blood, where inflammatory signs occur years before motor symptoms. The disease may thus commence outside the brain e.g. in the gut. Here, we will investigate whether exosomes deliver inflammatory signals and pathogens to the brain using new technology that allows separation of exosomes based on light scattering and fluorescence. Using mass spectrometry, we will identify misfolded proteins, pathogens and immune signals that are carried in exosomes from blood to brain. This is enabled by new software developed by the Coffey lab with the Michael J Fox Foundation. The results will promise insight on the trajectory of inflammatory and pathogen signals from blood to brain in Parkinson’s and mechanistic insight on infectious and inflammatory mechanisms.

Investigating the role of EMILIN1 Loss-of-Function variant (rs756288970) in aortic aneurysms and arterial tortuosity using FinnGen imaging and clinical data

(Minna Kaikkonen-Määttä / University of Eastern Finland)

This project investigates the role of a rare genetic variants in the EMILIN1 gene in the development of aortic aneurysms and changes in arterial structure. EMILIN1 is important for maintaining the elasticity and stability of blood vessels. Using data from the FinnGen study, we will assess whether carriers of this variant show signs of vascular abnormalities, such as enlarged aorta or arterial tortuosity, based on imaging records and clinical data. The results could provide new insights into the genetic causes of aortic disease and help identify individuals at risk earlier.

Biomarker study analysis of samples from Parkinson’s, autoimmune, and inflammatory skin diseases

(Novartis / The United States of America)

There is growing interest to identify non-invasive biomarkers for the purposes of (i) tracking disease progression, (ii) predicting likely onset of disease, and (iii) finding surrogates for specific gene activity. Discovery of these biomarkers is dramatically facilitated through the comparison of healthy individuals against those who carry genetic variants in genes that are strongly associated with disease risk and do or do not present with the gene of interest. This study uses elements of this approach in profiling biobanked specimens from several different and prevalent disease classes. The overarching goal of this study conducted by Novartis is to investigate and profile biomarkers that reflect the development of different diseases, namely Parkinson’s, autoimmune disorders of the intestines, and autoimmune disorders to the skin.

Multiplex pathogen serology on Finnish biobanks (FINBB) to study “non-communicable diseases”

(GlaxoSmithKline / United Kingdom)

Infektioilla voi olla pitkäaikaisia ja yllättäviäkin vaikutuksia terveyteen, kuten esimerkiksi non-communicable disease eli NCD-sairauksien kehittymiseen. Tutkimusten mukaan on arvioitu, että esimerkiksi 10% syövistä aiheutuu jonkun virusinfektion edesauttamana. NCD-sairauksien, genetiikan ja epidemiologian yhdistäminen tutkimuksissa on ollut kuitenkin haastavaa, sillä osa infektioista on hyvin lieväoireisia ja sairausten kehittyminen tai kohonnut riski voidaan havaita vasta vuosien saatossa. Suomalaiset biopankkiaineistot tarjoavat ainutlaatuisen mahdollisuuden tutkia näitä yhteyksiä. Tämän tutkimuksen tavoitteena on määrittää serologia-paneeli noin 9500 biopankkisuostumuksen antaneen tutkittavan verinäytteistä (seerumi). Serologia-paneelin tulokset yhdistetään biopankeissa olevaan genomidataan, kliinisen dataan sekä rekisteriaineistoihin. Rekisteriaineistojen luvitus haetaan Findatan kautta. Tutkimuksen avulla tullaan ymmärtämään paremmin aiempien virusinfektioiden yhteyttä NCD-sairauksien puhkeamiseen. Tutkimuksessa tutkitaan myös virusinfektioiden yhteisvaikutuksia. Projektin kokonaiskesto on arviolta noin 3 vuotta, vuoden 2027 loppuun. Serologiapaneelin analyysitulokset palautetaan biopankkeihin tutkimuksen päätyttyä.

iCAN Digital Precision Medicine Eastern Finland (iCANEAST)

(Arto Mannermaa / University of Eastern Finland)

iCANEAST focuses on digital precision cancer medicine integrating digital technology, data analysis, and personalized medical care to enhance cancer treatment and research. Molecular profiling of tumors identifying genetic mutations driving cancer progression, and liquid biopsies, providing a non-invasive method to monitor disease and response to treatment, are the key elements. Bioinformatics analyses and AI-driven approaches are leading to insights that can drive the development of precision medicine strategies. We develop processes to produce and analyze molecular alterations of tumors and related clinical data in a secure computing environment. ICANEAST will include altogether samples and data from 350 biobank consented patients.

Characterisation of myocardial fibrosis using near-infrared spectroscopy

(Annastiina Husso / Pohjois-Savon hyvinvointialue)

Tutkimuksen tavoitteena on kehittää lähi-infrapunaspektroskopiaa kliiniseen käyttöön sydänläppäpurjeiden kudosfibroosin arvioimiseen.

Molecular landscape of Lynch syndrome-associated tumor spectrum (FinMMR)

(Toni Seppälä / Tampere University)

Molecular landscape of Lynch syndrome-associated tumor spectrum (FinMMR) Lynch syndrome (LS) is common hereditary syndrome with an increased risk of colorectal, endometrial, and a dozen of other LS-related cancers, and caused by inherited defects in mismatch repair genes. Utilizing data from the Lynch Syndrome Research Registry, we have identified 800 LS associated tumors from 15 organs, to be obtained through Finnish Biobank requests. Our research aims to determine the mismatch repair deficiency and analyze the immune profiles of these tumors to identify the prevalent frameshift mutations allowing development of LS-specific ctDNA screening tests and validation of the vaccine developed for cancer prevention in LS.

Implementation of pharmacogenetics in psychiatry – an EU project

(Jaakko Kaprio / University of Helsinki/PG ZORGHOLDING BV (PGB, Parnassia Groep))

PSY-PGx is an EU Horizon 2020 project (https://www.psy-pgx.org/PSY-PGx) that aims to develop a genotyping approach for individualized pharmacotherapy to improve treatment outcomes in patients with psychiatric disorders. In the project, we aim to use Finnish Biobank data and FINDATA register data to obtain prospective data on whether genetic variation in patients prescribed selected medications for anxiety, depression or psychotic disorders affects various outcomes (changes in medication, hospitalization for psychiatric and non-psychiatric conditions, and death (especially suicides).

FinnGen 3 Pulmonology Task Force access request for spirometry and DLCO data

(Aarno Palotie / FIMM/Helsingin Yliopisto)

FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. Asthma, COPD (Chronic obstructive pulmonary disease), and ILD (Interstitial lung disease) are common lung diseases and so-called umbrella diagnoses including several clinical phenotypes and molecular genetic endotypes. In all of these diseases, gene discovery has conclusively revealed tens of susceptibility variants across the genome. Most of the identified variants are non-coding which makes it more challenging to show their relevance in disease biology, not to mention progression, severity or therapeutic response. FinnGen aims to fill this gap by bringing a depth of disease and therapeutic history information over decades that is not readily available in other large-scale biobank efforts. To further supplement the genetic study, we will use protein markers of blood taken in different stages of the disease.

New technologies as part of better diagnosis and treatment of pancreatic cancer

(Heikki Huhta / Wellbeing services county of North Ostrobothnia, University of Oulu)

The aim of the project is to explore the potential of convolutional neural network technology in the detection of pancreatic cancer cells from fine needle aspirate and investigate the possibility of classifying pancreatic cancers into different prognostic groups and predicting treatment response based on cell morphology using Deep Learning.

FinnGen 3 Neurodegenerative Disease Task Force access request

(Aarno Palotie / FIMM/Helsingin Yliopisto)

FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. The aim is to study the progression of Alzheimer’s disease by analyzing existing brain MRI scans alongside novel, highly sensitive plasma biomarkers. Combining imaging data with genetic and biomarker information could improve the accuracy of staging the disease and predicting its course. In the future,this knowledge could be applied to identify high-risk individuals, supporting clinical diagnostics and prognostic evaluations.

Hantavirus seroprevalence in B-cell lymphoma patients

(Tomas Strandin / University of Helsinki)

This project is to study the potential association between B-cell neoplasms and Puumala orthohantavirus infections. Puumala orthohantavirus can cause Nephropathia Epidemica, which is a disease associated with an increased risk for the later development of B-cell malignancies. However, most Puumalavirus infections are asymptomatic (not causing the disease) and detectable by the presence of Puumala-specific antibodies. We will screen patients with B-cell neoplasms for the presence of Puumala-specific antibodies and compare that to age-and sex-matched controls without B-cell neoplasms.

FinnGen 3 Eye Disease Task Force, age-related macular degeneration (AMD)

(Aarno Palotie / FIMM/Helsingin Yliopisto)

FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. The aim is to study the progression of age related macular degeneration (AMD) by collecting and analyzing clinical and genetic data, OCT images and protein biomarkers. In combination, the data will improve the identification of patients with the highest risk of disease progression. This in turn could, in the future, reduce the duration of clinical trials.

Utilization of Brain Imaging Data and Quantification in FinnGen and Biobank Data – The ’IMAGEN-BRAIN’ Study

(Valtteri Julkunen / University of Eastern Finland)

In this study, we establish a protocol for the use and quantitative analysis of neuroradiological images of interest identified from biobank data as part of precise disease characterization and prognostic assessment. Additionally, we investigate the availability of neuroradiological imaging studies (brain CT and MRI scans) in the biobank data. We also investigate the effect of the APOE4 genotype on the values produced by structural analysis of the brain and examine the relationship between structural brain changes and blood biomarkers for a subset of the cohort.

FinnGen IBD Task Force access request

(Aarno Palotie / University of Helsinki)

FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. Gene discovery in IBD has been particularly successful, with hundreds of common and dozens of rare coding variants conclusively identified. Further, specific functional description of variant effects has also advanced more rapidly than in most complex diseases owing to the accessibility of relevant tissues and immune cells in patients and controls. However, next to no insight has been gained that would indicate the relevance of any of this biology to disease progression, severity or therapeutic response owing to a lack of well-powered studies of such questions. FinnGen aims to fill this gap by bringing a depth of disease and therapeutic history information over decades that is not readily available in other large-scale biobank efforts. For this, we will utilise both pathology diagnosis codes and preserved tissue biopsy samples from IBD patients.

FinnGen3 Whole exome sequencing for schizophrenia and schizoaffective disorder

(Aarno Palotie / Helsingin yliopisto)

Research Project FinnGen: Exome Sequencing of schizophrenia and schizoaffective disorder One of the key goals of the third phase of FinnGen is to better understand the genetic background of diseases. Exome sequencing provides new biological insights into disease mechanisms.

FinnGen 3 EDTA-Plasma sample request first batch

(Aarno Palotie / University of Helsinki)

FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. Proteins serve as vital biomarkers for diseases and drug responses, influenced by genetic, clinical, and environmental factors, and are essential for monitoring overall health. To enable proteomic analyses in FinnGen, we will produce proteomic data from selected EDTA plasma samples collected by the Finnish biobanks. We will test whether the Finnish-enriched disease-associated variants have an impact on the plasma protein profile. These analyses can help us to understand which genetically identified targets may be suitable for halting or slowing disease progression and further enhance novel drug development and precision medicine applications.

FinnGen 3 Bipolar and eating disorder DNA sample request

(Aarno Palotie / University of Helsinki)

FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. In this FinnGen sub-effort, we aim to identify rare variants that contribute to bipolar disorder and severe eating disorders by exome sequencing approximately 12,000 FinnGen participants. Current knowledge indicates that mental health disorders have a polygenic genetic background. In addition to a combined effect of many minor genetic risk factors (polygenic risk), sequencing studies have identified rare coding variants with a larger impact on disease risk. Despite their rarity, these variants are important for understanding the biological mechanisms that lead to disease susceptibility, potentially opening up new opportunities for functional studies and novel treatment options.

FinnGen 3 DNA sample request for Autosomal Dominant Polycystic Kidney Disease (ADPKD)

(Aarno Palotie / University of Helsinki)

FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. In this FinnGen sub-effort, we aim to better understand the genetic background of the most common form of polycystic kidney disease, ADPKD. It affects about 1 in 400 to 1,000 people and is primarily caused by mutations in the PKD1 and PKD2 genes. Patients are usually diagnosed in adulthood and face risks like kidney failure, hypertension, and pain. To identify the key factors in ADPKD progression, it is important to know what kind of highly penetrant risk variants contributing to disease susceptibility the patients have. For this, the GWAS-based genotype data currently available in FinnGen is insufficient and thus we will perform exome sequencing on ~800 potential ADPKD cases.

Development of deep learning algorithms in DLBCL

(F. Hoffmann-La / Roche Ltd)

The study will focus on developing and validating algorithms for lymphoma. The objective is to develop algorithm for predicting the progression of the disease. The study will utilize digitalized slides from diagnostic samples. Samples are accessed through Finnish Hospital Biobanks.

Genetic etiology of idiopathic normal pressure hydrocephalus

(Ville Leinonen / Kuopio University Hospital)

This study aims to decipher the genetic etiology of normal pressure hydrocephalus (NPH) and search for possible novel diagnostic and prognostic biomarkers and develop patient specific treatment of NPH.

APOLLO 2 Study: blood AD diagnosis multicentric retrospective study extension AgenT

(AgenT / Evry, France)

The surge in Alzheimer’s disease (AD) blood biomarker research, especially following Leqembi’s FDA approval, underscores the urgent need for more specific diagnostic tools. Traditional biomarkers like amyloid PET scans and CSF Aβ42 or pTau assays effectively predict cerebral amyloid plaques but lack specificity in forecasting which Mild Cognitive Impairment (MCI) patients will develop AD dementia symptoms (Ritchie et al., 2014). Developing biomarkers beyond those that predict high amyloid plaque levels remains challenging. Consequently, AD diagnostic companies focus on incremental innovations, striving for less invasive methods than amyloid PET or CSF testing, yet still encountering specificity limitations in predicting which MCI patients will develop AD dementia symptoms in the coming years (Souchet et al., 2023).

Current approaches measure biomarkers such as Aβ42, Aβ40, pTau181, or pTau217 in plasma, but these do not outperform more invasive methods like CSF assays (Ashton et al., 2024). A recent study on the pTau217 biomarker revealed that 53.7% of (pTau217)-positive MCI patients did not develop AD dementia symptoms within three years, underscoring this specificity problem (Lehmann et al., 2024).

AgenT has pioneered an innovative approach using AAV-AD rats (Audrain et al., 2018) to discover blood biomarkers that predict the conversion to AD dementia symptoms, rather than the presence of cerebral amyloid plaques. After extensive research and a multicentric retrospective study on 632 individuals, AgenT identified a panel of highly specific biomarkers and validated two blood tests, B-HEALED (Souchet et al., 2024) and B-AHEAD. These tests are designed to select individuals who will develop AD dementia symptoms from MCI patients and cognitively normal individuals, respectively. The novelty of this methodology lies in combining these biomarkers through machine learning to capture the AD biological complexity. This approach offers a more specific diagnostic tool, potentially transforming early AD detection and intervention.

The primary objective of this collaboration between AgenT and Finnish Biobanks is to quantify multiomics biomarkers in biobanked plasma samples. The analysis and quantifications are part of a larger effort to validate the version II of B-HEALED and B-AHEAD blood tests. Finnish Biobanks will provide the plasma samples and associated clinical data for the study.

Aivosairauksien geneettisen testauksen kehittäminen ja hyödyntäminen aivotutkimusyksikön yksilöllistetyn lääketieteen sovellutuksissa

(Mikko Hiltunen / Itä-Suomen yliopisto)

Alzheimerin tauti ja otsaohimolohkorappeumat on kansantaloudellisesti merkittäviä dementiaan johtavia hermostoa rappeuttavia sairauksia. Hankkeessa pyritään ymmärtämään mikrogliasolujen solutason mekanismeja hermoston rappeutumisessa. Hankkeessa keskitytään tiettyihin muutoksiin C9ORF72- sekä TYROBP-geeneissä, jotka säätelevät sairastumisriskiä Alzheimerin taudissa ja otsaohimolohkorappeumissa, ja niiden toistaiseksi tuntemattomaan mekanistiseen rooliin mikrogliasoluissa hyödyntäen genomisia tutkimusmenetelmiä. Saatua tietoa mikrogliasolujen solutason mekanismeista hyödynnetään jatkossa yksilöllistetyn lääketieteen sovellutuksissa ennakoivien biomarkkereiden löytämiseksi sekä uusien hoitojen kehittämiseksi.

Codex4SMEs – Companion Diagnostics expedited for SMEs

(Mediagnost / Reutlingen, Germany)

In the context of the INTERREG Program, the Codex4SMEs consortium aims at improving healthcare by enhancing the adoption of Personalized Medicine (PM) in the North West Europe (NWE) territories and beyond. Numerous gap analyses have in fact shown that NWE countries are falling behind in the worldwide implementation of both personalized medicine and companion diagnostics (Cdx). The consortium is composed by nine members and two sub-partners, each with different backgrounds, experiences and competences. The role of the LIH-IBBL Translational Biomarker Group, TBG for short, is to deliver a service of biomarker (BM) validation aimed at increasing the chances for a putative BM to ‘progess’ from bench to bedside. Codex4SMEs has launched two calls for proposal, back in 2018 and 2019, to invite NWE SMEs developing Cdx, to submit an application for their biomarker to be validated at IBBL. Eventually, five SMEs have been awarded. The German-based SME Mediagnost, one of the five SMEs awarded by the consortium scientific committee, had then submitted a proposal for the validation of a diagnostic and prognostic BM for sepsis. Mediagnost key qualifications‘ lie in the research and development of serological test methods in the indication areas of infectiology and endocrinology’. Mediagnost is the manufacturer of a sandwich assay ELISA kit for the immunoenzymatic quantification of Progranulin. Progranulin (PGRN) is a pleiotropic growth factor with a central role in macrophage recruitment and in the control of innate immunity and inflammation during the early the stages of sepsis. The 68.5 kDa protein is glycosylated and contains 12 disulfid bridges (P28799 Uniprot). The mature secreted protein is cleaved in 6-25kDa fragments called granulins. PGRN is involved in inflammation, wound healing and cell proliferation. Sepsis is a complex, systemic and inflammatory host reaction to an infection and, with a worldwide 1.5 million cases per year, poses a health challenge. The mortality from sepsis is approximately 40% in adults and 25% in children. An early intervention is essential for successful reduction of mortality: each hour delay in antibiotic therapy results in an increase of 7.5% in mortality. Currently diagnosis is mainly based on clinical parameters (e.g., body temperature, circulation parameters, and leucocyte number). Mediagnost is developing a new method to improve diagnosis and for this Finnish Hospital Biobanks samples are utilized.

Halkiotutkimus (orofacial clefts)

(David Rice / Helsingin yliopisto)

Projektin tavoitteena on laajentaa ymmärrystä kasvojen alueen kehityksen geenisäätelystä. Aikaisempi tutkimus on paljastanut erilaisia geneettisiä tekijöitä, jotka liittyvät suun halkioihin, yleisimpiin kasvojen alueen kehityshäiriöihin. Suomessa käynnissä oleva laaja väestötutkimus, FinnGen, on nyt paljastanut IRF6-geenin säätelyalueessa sekvenssimuutoksen, joka on yhteydessä suulakihalkion muodostumiseen. Tarkoituksemme on varmistaa tämä havainto ja selvittää tarkemmin millainen ilmiasu sekvenssimuutoksen kantajilla on. Käytämme biopankkinäytteitä myös muiden FinnGen-tutkimuksen osoittamien halkioihin liittyvien geenialueiden sekä muiden tunnettujen halkiota aiheuttavien geenien tutkimiseen.

FinnGen EA3 study for data mining electronic health records for age-related macular degeneration subtyping

(Aarno Palotie / Helsingin Yliopisto / FIMM)

FinnGen3 yhdistää geenidatan kliinisten parametrien kanssa tähdäten parempaan ymmärrykseen AMD:n etiologiasta, progressiosta, kliinisen kuvan vaihtelevuudesta ja yksilöllisestä hoidosta.

HSFs are critical for the maintenance of cardiovascular health (HSF-CARD)

(Lea Sistonen / Åbo Akademi)

HSF-molekyylit ovat solujen stressivastetta sääteleviä tekijöitä ja niiden tärkein tehtävä on suojella solua proteiineja vahingoittavalta stressiltä. Ihmisen soluissa ilmenee viisi erilaista HSF-molekyyliä, joista HSF1 on välttämätön solun selviytymiselle akuutista stressistä. Tässä tutkimuksessa tarkastellaan, miten HSF1 ja HSF2 ilmenevät ihmisen verenkiertoelimistön soluissa. Tutkimuksen tavoite on tunnistaa ne molekyylitason mekanismit, joilla HSF-molekyylit suojelevat sydän- ja verenkiertoelimistön kudoksia erilaisilta stressitekijöiltä.

Levinneen suonikalvoston melanooman hoitotulokset

(Tero Kivelä, Elina Rantala / HUS, Silmäpatologian laboratorio)

Suonikalvoston melanooma on aikuisten yleisin silmänsisäinen pahanlaatuinen kasvain, johon Suomessa sairastuu vuosittain 65 potilasta. Sairastuneista 50 %:lle kehittyy etäpesäkkeitä 25 vuoden seurannassa. Keskimääräinen eloonjäämisaika on valikoitumattomassa potilasaineistossa noin 8 kk. Tällä hetkellä levinneestä suonikalvoston melanoomasta ei ole kansainvälisesti yhtenevää seurantaohjelmaa tai konsensusta hoidosta. Kyseessä on potilasasiakirjoihin pohjautuva takautuva tutkimus. Aineisto koostuu HYKS:n silmäklinikassa 1999-2016 hoidetuista potilaista, joita on noin 1100 ja levinnyt tauti on todettu noin 500 potilaalla. Tutkimuksessa selvitetään ylävatsan kaikukuvauksen ja tietokone- tai magneettikuvauksen yhtäpitävyyttä etäpesäkkeiden toteamishetkellä. Lisäksi selvitetään hoitopolkuja ja hoitotuloksia ja ilman aktiivihoitoa seurattujen potilaiden elinaikaa.

Vitamin D status and dynamics of Kuopio University Hospital patients

(Carsten Carlberg / Itä-Suomen Yliopisto, Lääketieteen laitos, Biolääketieteen yksikkö)

D-vitamiini suojaa kiistattomasti tuki- ja liikuntaelinten sairauksilta, ja sen vastaavaa merkitystä tartuntataudeissa, autoimmuunisairauksissa ja syövässä sekä useissa muissa sairauksissa tutkitaan. Tutkimuksen ensimmäisessä osassa pyritään kuvaamaan Itä-Suomen Biopankin materiaalista Kuopion yliopistollisen sairaalan potilaiden D-vitamiinistatus vähintään kerran tehdyn 25(OH)D-mittauksen perusteella (noin 10 000 henkilöä). Analysoimme potilaiden D-vitamiinitason ja eri sairauksien välisen yhteyden. Tämä tukee tai kumoaa oletuksen D-vitamiinin suojaavasta roolista sairauksissa. Tutkimuksen toisessa osassa materiaali koostuu potilaista, joille 25(OH)D on mitattu vähintään kahdesti. D-vitamiinin taso ja sen dynaaminen alue ovat ennusteellisia arvoja. Niillä voi olla merkitystä sairauksien ennaltaehkäisyssä etenkin pohjoismaisissa väestöryhmissä, kuten Itä-Suomessa.

HSP – Henoch-Schönleinin purppura -glomerulonefriitti lapsilla

(Timo Jahnukainen / HUS Lastenklinikka)

Henoch-Schönlein purppura (HSP) on pääasiassa lapsilla esiintyvä sairaus, jonka tyypillisiä oireita ovat eriasteiset iho-, vatsa-, nivel-, munuaisoireet. Pitkäaikaisennuste on riippuvainen munuaisoireiden vaikeusasteesta ja kestosta. Pahimmillaan HSP voi aiheuttaa vaikean munuaisten vajaatoiminnan, joka voi johtaa dialyysiin ja munuaisensiirtoon. Tutkimuksessa selvitetään munuaiskoepalojen ennusteellista merkitystä HSP-potilailla. Tavoitteena on parantaa HSP-potilaiden diagnostiikkaa ja pystyä tunnistamaan huonon loppu tuleman suhteen riskissä olevat potilaat nykyistä paremmin, jolloin tautia pystytään hoitamaan näillä potilailla aktiivisemmin.