Studies of 2024

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.