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EN
ČeštinaEnglish

Genetic factors of progressive hearing loss of cochlear implantation candidates: a potential for stratification of their therapy

Project goals

Hearing impairment (HI) affects 15% to 50% of population, depending on age, up to 75% having genetic origin. Yet, no studies have been carried out on genetic causes of progressive post-lingual HI (PPHI) in larger cohorts. In this study, we use the next generation sequencing (NGS) method to examine a unique cohort of at least 100 adult patients with PPHI with cochlear implant (CI). Inclusion criteria comprise no signs of syndrome or non-genetic aetiology of PPHI. Mutations in the most common HI gene (GJB2) will be excluded before NGS is performed. In a pilot study, 50 CI users have already been gathered. After analysis of the frequency and spectrum of mutations in known genes, familial cases will be analysed by bioinformatics methods in search for mutations in new genes. Newly found variants will be filtered and verified using databases, prediction programs and allelic segregation in the family. This shall widen our knowledge about genetic causes of HI in Czechia, and help to find new PPHI genes. Understanding of the genetic causes may allow us to choose the optimal approach to CI.

Keywords

NGSNGSprogresivní porucha sluchugenetika hluchotykochleární implantátprogresive hearing lossgenetics of deafnesscochlear implant

Public support

  • Provider

    Ministry of Health

  • Programme

    Programme to support medical applied research in 2015 to 2022

  • Call for proposals

    Zdravotnický AV 5 (SMZ0201900001)

  • Main participants

    Fakultní nemocnice v Motole

  • Contest type

    VS - Public tender

  • Contract ID

    NV19-06-00189

Alternative language

  • Project name in Czech

    Studie genetických faktorů progresivní poruchy sluchu kandidátů kochleární implantace: možnosti stratifikace jejich léčby

  • Annotation in Czech

    Poruchy sluchu (PS) postihují v závislosti na věku 15% až 50% populace a až v 75% jsou geneticky podmíněny. Přesto dosud nebyly podrobně zmapovány genetické příčiny nejtěžších postlingválních progresivních PS (PPPS) u většího souboru pacientů. Ve studii vyšetříme metodou sekvenování nové generace (NGS) unikátní soubor minimálně 100 dospělých pacientů s PPPS vedoucí ke kochleární implantaci (KI). Zařazeni budou pacienti bez známek syndromu či negenetické etiologie. Před provedením NGS budou vyloučeny mutace v nejčastějším genu pro PS (GJB2). V rámci pilotní studie bylo již shromážděno prvních 50 uživatelů KI. Po analýze frekvence a spektra mutací v již známých genech bude u familiárních případů pomocí bioinformatických metod pátráno po mutacích v nových genech. Nově nalezené varianty budou filtrovány a dále verifikovány pomocí databází a predikčních programů a segregací v rodině. Výsledkem bude rozšíření spektra znalostí o genetických příčinách PS v české populaci, přispění k možné identifikaci nových genů pro PPPS. Znalost genetické podstaty umožní zvolit optimální postup před KI.

Scientific branches

  • R&D category

    AP - Applied research

  • OECD FORD - main branch

    30101 - Human genetics

  • OECD FORD - secondary branch

    30206 - Otorhinolaryngology

  • OECD FORD - another secondary branch

    —

  • EB - Genetics and molecular biology
    FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry

Completed project evaluation

  • Provider evaluation

    U - Uspěl podle zadání (s publikovanými či patentovanými výsledky atd.)

  • Project results evaluation

    The project fully satisfied the planned subject theme and its scope. The researchers succeeded in working out the genetic etiology of hearing disorders in a relatively large cohort. The importance of the project for clinical practice lies mainly in the fact that, in addition to the classic mutation of Connexin 26, a number of other mutations have been identified in patients with hearing loss and who are also scheduled for neuroprosthesis implantation. This group of patients was previously referred to as a non-syndromic hearing loss. The publication reflects the results of the project in terms of content and topic. The research team published almost twice the planned number of articles in journals with IF. Due to the COVID pandemic, a total of 3 other publications are still in the review process. Except for minor shortcomings, the research team complied with the required documentation of the project.

Solution timeline

  • Realization period - beginning

    May 1, 2019

  • Realization period - end

    Dec 31, 2022

  • Project status

    U - Finished project

  • Latest support payment

    Apr 19, 2022

Data delivery to CEP

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

  • Data delivery code

    CEP23-MZ0-NV-U

  • Data delivery date

    Jun 22, 2023

Finance

  • Total approved costs

    10,064 thou. CZK

  • Public financial support

    10,064 thou. CZK

  • Other public sources

    0 thou. CZK

  • Non public and foreign sources

    0 thou. CZK

Basic information

Recognised costs

10 064 CZK thou.

Public support

10 064 CZK thou.

100%

Provider

Ministry of Health

OECD FORD

Human genetics

Solution period

01. 05. 2019 - 31. 12. 2022

Similar projects(10)

Molecular genetic analysis of SLC26A4 gene among Czech patients with nonsyndromic hearing loss and excluded GJB2 mutation. (NS9913) Massive parallel sequencing (MPS) for elucidation of causes of early hereditary hearing loss in Czech patients without GJB2 mutations (NV16-31173A) Analysis of the genetic etiology of progressive hearing loss using WGS and innovative bioinformatics approaches (NW24J-06-00119)