The research is a close collaboration between the ENT department and the departments of Human Genetics. Furthermore, it will provide handles for the development of future therapy. Identification of deafness genes facilitates adequate counseling of patients and their families and provides knowledge on inner ear function. The function of novel deafness genes is unraveled by studying the encoded protein with several techniques including the search for interaction partners. Clinical characterization of the hearing loss in families enables us to establish genotype-phenotype correlations for hearing loss. Linkage analysis, homozygosity mapping, and whole exome sequencing are performed and combined by using state-of-the-art techniques. Therefore, we study hearing impairment in families and in single cases. Hearing impairment often has a genetic cause also when there is only one hearing impaired individual in a family. To reach this goal, we include families from Pakistan and Turkey via collaborations with researchers in these countries. The aim of our studies is to identify genetic defects that underlie hereditary hearing impairment in the Netherlands and to unravel the molecular pathogenesis. Although more than 60 deafness genes are known already, it is estimated that more than hundred additional genes await identification. Dominant, recessive, X-linked, Y-linked and mitochondrial inheritance patterns can be seen. We largely concentrate on the genetics of nonsyndromic deafness. Clinical and genetic heterogeneity of hearing impairment is enormous. Hereditary hearing impairment (or deafness) is among the most common monogenic disorders but can also be multifactorial as is the case for age-related hearing loss. Hereditary hearing impairment (or deafness) Netherlands Institute for Neuroscience (NIN).Western University Ontario, Brain & Mind Institute.Monash Institute of Cognitive and Clinical Neurosciences.Brain Mind Institute of the Ecole Polytechnique Fédérale de Lausanne (EPFL) Brain Mind Institute of the Ecole Polytechnique Fédérale de Lausanne (EPFL).Preferred Institutional Partners Preferred Institutional Partners.DSS Best Practices for Conference Organization.Diversity and Sustainable Science Diversity and Sustainable Science.Diversity and Sustainable Science Committee.Summer School Stress & Cognition Summer School Stress & Cognition.Former Donders Lectures Former Donders Lectures.Postdoctoral researchers Postdoctoral researchers.Donders Institute-Turner Institute Exchange Trainee Programme.Overview Donders- and centre-wide meetings.Monitoring programme Monitoring programme.Graduate School Certificate Graduate School Certificate.Graduate School Training Graduate School Training.Support and Supervision Support and Supervision.Donders Teaching Kit Donders Teaching Kit.Donders in the media Donders in the media.Research facilities Research facilities.Cognomics conference 2019 Cognomics conference 2019.Adaptive Language for Healthy Brain and Society Adaptive Language for Healthy Brain and Society.About animal research About animal research.Examples of techniques available at TNU.Techniques, animals and facilities Techniques, animals and facilities.Research Facilities and Projects Research Facilities and Projects.Theme 4: Natural Computing & Neurotechnology Theme 4: Natural Computing & Neurotechnology.Theme 3: Development and Lifelong Plasticity.Usher syndrome: Genetics and Functional Genomics.Theme 2: Perception, Action and Decision-making.
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