Studies of 2024

FinnGen 3 EDTA-Plasma sample request

Aarno Palotie, FIMM

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.

Owkin IBD project

Owkin France

Inflammatory bowel disease (IBD) is a term that includes two debilitating diseases characterized by chronic inflammation of the intestines: Crohn’s disease and ulcerative colitis. Currently, no cause has been identified, and most treatment options only relieve symptoms, without curing the disease. This project aims at better understanding the disease and its causes, in order to better assess patients' response to the current treatments available, which would allow us to better tailor treatment options for patients.

FinnGen IBD Task Force access request

Aarno Palotie, FIMM

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.

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

Aarno Palotie, FIMM

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.

Towards more personalized and more effective fracture treatment: Role of genetics and molecular biology in fracture healing and clinical decision making

Aleksi Reito, Tays

Genomic information and other molecular biological aspects have not been investigated thoroughly in human fracture healing. The aim is to investigate the role of genomics in fracture healing and develop a robust tool for clinical decision-making and risk stratification.

Genetics of sudden deafness, vestibular neuritis and age-related hearing loss

Argyro Bizaki-Vallaskangas, Tampere University

Idiopathic sudden hearing loss is an otologic emergency with an obscure cause. Vestibular neuritis is idiopathic inflammation of vestibular nerve, characterized clinically by an acute or subacute  onset of vertigo ; nausea and imbalance. Hearing loss and tinnitus do not usually occur. There are considered two different entities, and their pathophysiologic mechanisms remains unknown.GWAS analyses in Finnish population for either sudden deafness or vestibular neuritis patients, revealed two shared variants in chromosome 12 close to TUBA1c and DIP2B genes. Genetics studies in patients with age-related hearing loss revealed a strong association with SYNJ2 gene especially in female patients. Those shared variants imply a shared genetic association. Studying the shared separate genetic background of the various phenotypes provides a valuable tool for revealing their unknown pathophysiology.

Panvalent enterovirus vaccine

Minna Hankaniemi, Tampere University

Enteroviruses (EVs) impose a significant disease burden on humans, causing conditions such as acute flaccid paralysis, meningitis, and myocarditis. Out of the 286 known EV types, there is no vaccine available for 282. Despite the global use of traditional inactivated and attenuated polio vaccines, cases of polio-induced paralysis persist. In this project, we are analyzing plasma/serum samples collected from patients experienced enterovirus infection or disease. The level and prevalence of antibodies specific to EV will be determined and compared between patients. The EV parts targeted by the antibodies will not be included in the vaccine developed in this project.

Implemention of pharmacogenetics in psychiatry - a EU project

Jaakko Kaprio, FIMM, Helsingin Yliopisto

Mental disorders are noncommunicable diseases that are a major health challenge in Europe in the 21st century. In the PSY-PGx project overall, today, medication selection in psychiatry relies on a trial-and-error approach that combines physicians’ experience with clinical indicators. Pharmacogenetic (PGx) testing can help reduce uncertainty in this process by determining the person-specific genetic factors that predict clinical response and side effects associated with genetic variants that impact drug-metabolizing enzymes, drug transporters or drug targets, where differences in metabolism are by far most important. As part of the project, we aim to use data on genetic variants in two genes involved in the metabolism of medications commonly used in psychiatry to study their impact on medication choices and outcomes in a real-life setting using biobank and register data.