Cytogenomics and molecular genetic studies
Participants: Prof. Dr. György Fekete, Dr. Irén Haltrich, Dr. Krisztina Németh, Dr. Árpád Ferenc Kovács, Dr. Anna Lengyel, Dr. Éva Pinti, Dr. Fanni Szumutku, Krisztina Staub, Tünde Abonyi, Zaránd Némethi, Xénia Varga, Júlia Erhardt, Kamilla Li Luca
1./ Focusing on the depiction of single cells multiomics based genotype-phenotype correlations and development of new genome diagnostics assays
In our in vitro systems we use as a model the Fabry-disease, which is elicited by pathogenic variants in the GLA gene. We aim to uncover the pathomechanism of the subclinical inflammation. Based on our activities related to the detection and treatment of lysosomal storage diseases, our working group has been designated by the National Health Insurance Fund as one of the Budapest Centers for Fabry Disease.On the other hand we try to understand the immune-(epi)genetical factors, polygenic multiple variants impact in the development of long-COVID syndrome caused by SARS-CoV-2 infection. Another topic is related to the relevance of recognizing genetic predisposition to childhood cancer (detailed clinical history, genetic investigation, genetic counseling and long term follow up after cure).
2./ Understanding the background of neurodevelopmental disorders (NDDs)
These disorders include developmental delay/intellectual disability, autism spectrum disorder, ADHD, other behavioural disorders, epilepsy, developmental coordination disorder, speech and language disorders. One of the largest groups of genetic aetiologic factors are copy number variations (CNVs).We aim to constantly analyze and reevaluate variants of uncertain findings and to disseminate data regarding potentially pathogenic VUS to facilitate future classification efforts.
3./ The genetic mechanisms underlying congenital heart disease (CHD)
Our aim is to identify pathogenic gene variants in isolated congenital heart defects. We also try to reveal the genotype-phenotype correlations in 22q11.2 microdeletion syndrome related conotruncal heart defects.
4./Clarification the background and genotype-phenotype correlations of complex developmental disorders
Our aim is to follow-up complex developmental disorders and organize their multidisciplinary care in order to improve the length and quality of those patients’ life.
5./ Molecular genetic testing for several congenital inherited diseases
DNA analyses of patients and family members are carried out for diagnostic and research studies inFabry disease, Pompe disease,type I neurofibromatosis, Legius syndrome, congenital adrenal hyperplasia (CAH), familial hypercholesterolaemia, Friedreich ataxia, haemochromatosis, non-syndromatic congenital deafness. In cooperation with the Budapest Newborn Metabolic Screening Center, I. Department of Pediatrics, Semmelweis University, we perform DNA analyses of the following metabolic diseases: phenylketonuria, galactosemia, biotinidase deficiency.