Thesis supervisor: Tibor Kalmár
Location of studies (in Hungarian): SZTE SZAOK Gsermekgyógyászati Klinika Abbreviation of location of studies: GYERM
Description of the research topic:
Genetic abnormalities (primarily single gene and copy number variants and chromosomal abnormalities) are leading causes of infant morbidity and mortality. Many of these conditions are very rare (1:50,000-1:20,000 live births), while due to the large number of unique entities recognized so far, the total number of affected individuals is also significant in Hungary.
An accurate and early genetic diagnosis is invaluable for the clinical management of the patient and the promotion of positive family planning for the family. Some of the genetic syndromes with severe symptoms can be easily diagnosed in the neonatal period and/or infancy with the help of targeted tests, if the symptoms are characteristic of a specific disease or disorder. However, a targeted approach is difficult for many congenital conditions that are genetically heterogeneous or do not have a single defined cause. In the last few years, Next Generation Sequencing (NGS) technology, primarily clinical exome (CES), has been increasingly widely used for genetic analyzes in Children's Clinics as well. The topic of the dissertation is the genetic sequencing-based diagnostics of newborns, infants and children with congenital malformation syndromes treated and diagnosed at the Children's Clinic of University of Szeged, the identification of the individualized genetic causes of the disease and the determination of its clinical consequences.
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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