Supervisor: ZIMA, Judith
Co-supervisor: Dr. SZABÓ, András
Nowadays, hearing loss affects approximately 70 million people worldwide and 50% to 60% of the cases are due to genetic factors. In case of hearing impairment with genetic background, we can differentiate hearing damages not associated with other hereditary conditions, so-called non-syndromic types (60-70%) from the syndromic types (30-40%) involving other organs. Mutations in the GJB2 and MARVEL2 genes and A636G, A827G, T961C, T1005C, T1116G, C1494T, A1555G, A3243G, 7472insC, A7443G, G7444A, A7445C, T7510C, T7511C, T7512C mutations which are responsible for the development of the mitochondrial originated hearing loss are most often associated genetic factors with the development of the disease. In the Department of Medical Genetics traditional DNA sequencing method is available for the investigation of hearing-related genes. Within the Student Researchers’ Society topic, it is possible for the students to examine the genetic background of the disease and to carry out the genotype-phenotype correlation analysis based on the results.