Thesis supervisor: Nikoletta Nagy
co-supervisor: Márta Széll
Location of studies (in Hungarian): Institut of Medical Genetic Albert Szent-Györgyi Medical School University of Szeged Abbreviation of location of studies: OGEN
Description of the research topic:
Regarding the rare monogenic diseases, the presence of a disease-causing genetic variant is usually cruicial in the development of the disease, however further genetic and non-genetic modifying factors also play a role in the observed phenotypic diversity of the patients. We aim to identify phenotype modifier factors, which contributes to the better understanding of the phenotypic diversity of the investigated patients, the mechanisms of the investigated rare diseases and to the elucidation of missing heritability. Our investigations focus ont he following rare monogenic diseases: CYLD cutaneous syndrome, oculocutaneous albinism and Papillon-Lefevre syndrome.
Required language skills: english Number of students who can be accepted: 1
Deadline for application: 2024-12-31
2024. IV. 17. ODT ülés Az ODT következő ülésére 2024. június 14-én, pénteken 10.00 órakor kerül sor a Semmelweis Egyetem Szenátusi termében (Bp. Üllői út 26. I. emelet).
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