Projects funded by the NCN


Information on the principal investigator and host institution

Information of the project and the call

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Mutational load in children with prelingual deafness - searching for a novel predictive factor to assess the outcome of cochlear implantation

2017/27/N/NZ5/02369

Keywords:

mutational load next-generation sequencing deafness cochlear implant

Descriptors:

  • NZ5_3: Pathogenesis of human diseases
  • NZ5_5: Diagnostics in human diseases

Panel:

NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)

Host institution :

Instytut Fizjologii i Patologii Słuchu

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Dominika Oziębło 

Number of co-investigators in the project: 3

Call: PRELUDIUM 14 - announced on 2017-09-15

Amount awarded: 209 520 PLN

Project start date (Y-m-d): 2018-08-10

Project end date (Y-m-d): 2023-08-09

Project duration:: 60 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Information in the final report

  • Publication in academic press/journals (2)
  • Articles in post-conference publications (6)
  1. Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants
    Authors:
    Oziębło D., Obrycka A., Lorens A., Skarżyński H., Ołdak M.
    Academic press:
    Journal of Clinical Medicine (rok: 2020, tom: 9(1), strony: nie dotyczy), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/jcm9010228 - link to the publication
  2. Searching for the Molecular Basis of Partial Deafness
    Authors:
    Ozieblo D., Bałdyga N., Leja M.L., Skarzynski H., Oldak M.
    Academic press:
    International Journal of Molecular Sciences (rok: 2022, tom: 23(11), strony: nie dotyczy), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms23116029 - link to the publication
  1. Cochlear implantation outcome in patients with DFNB1 locus pathogenic variants
    Authors:
    Oziębło D., Obrycka A., Lorens A., Skarżyński H., Ołdak M.
    Conference:
    32nd Politzer Society Meeting and 2nd World Congress of Otology (rok: 2019, ), Wydawca: Institute of Sensory Organs, 1 Mokra Street Kajetany, 05-830 Nadarzyn
    Data:
    konferencja 43613
    Status:
    Published
  2. Niedosłuch syndromiczny u dzieci z implantem ślimakowym.
    Authors:
    Oziębło D., Ołdak M.
    Conference:
    XV Konferencja Naukowo-Szkoleniowa Sekcji Audiologicznej i Sekcji Foniatrycznej Polskiego Towarzystwa Otorynolaryngologów Chirurgów Głowy i Szyi (rok: 2022, ), Wydawca: Instytut Narządów Zmysłów, ul. Mokra 1, Kajetany 05-830 Nadarzyn
    Data:
    konferencja 10-11.04.2022
    Status:
    Published
  3. Cochlear implantation outcome in patients with DFNB1 locus pathogenic variants - implications for precision medicine
    Authors:
    D. Ozieblo, A. Obrycka, A. Lorens, H. Skarzynski, M. Oldak
    Conference:
    52nd European Society of Human Genetics (ESHG) Conference (rok: 2019, ), Wydawca: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England
    Data:
    konferencja 43631
    Status:
    Published
  4. Częściowa głuchota i jej uwarunkowania genetyczne.
    Authors:
    Oziębło D., Bałdyga N., Leja M.L., Skarżyński H., Ołdak M.
    Conference:
    XLV Krajowa Konferencja Naukowo-Szkoleniowa "Problemy otorynolaryngologii dziecięcej w codziennej praktyce" (rok: 2022, ), Wydawca: Instytut Narządów Zmysłów ul. Mokra 1, Kajetany 05-830 Nadarzyn
    Data:
    konferencja 17–19.11.2022
    Status:
    Published
  5. Wide spectrum of genetic hearing loss causes and large number of novel variants in cochlea implanted children
    Authors:
    Ozieblo D., Leja M., Skarzynski H., Oldak M.
    Conference:
    53rd European Society of Human Genetics (ESHG) Conference (rok: 2020, ), Wydawca: Nature Publishing Group, Macmillan Building, 4 Crinan St., London N1 9XW, England
    Data:
    konferencja 43988
    Status:
    Published
  6. Genetic heterogeneity of hearing loss causes in cochlear-implanted children.
    Authors:
    Oziębło D., Skarżyński H., Ołdak M.
    Conference:
    XXXV World Conges of Audiology (rok: 2022, ), Wydawca: Institute of Sensory Organs, 1 Mokra Street Kajetany, 05-830 Nadarzyn
    Data:
    konferencja 10-13.04.2022
    Status:
    Published