Research group

Gene diagnostics and research
Lysosomal storage disorders
2019-present

Lysosomal storage disorders are characterized by a chronic subclinical inflammation. We aim to uncover the mechanisms behind the chronic inflammation pathways via in vitro cell model systems. We develop two novell single cell methods: single-cell enzyme activity and therapy monitoring assay.

Depiction of T-cell mediated dysfunction in childhood long-COVID syndrome in a prospective study
2022-present

Investigation in a prospective study at single-cell level multiomics the established long-COVID syndrome following molecularly proven SARS-CoV-2 infection.

DiGeorge-syndrome prospective study
2021-present

DiGeorge-syndrome multidisciplinary, prospective study, comprehensive analysis of T-cell mediated dysfunction.

Genetic background of tumour predisposition
2021-present

Multiomic analysis of genotype-phenotype correlations of isolated lateral overgrowth, neurofibromatosis, and other genetics syndromes predispozing to malignant tumours.

Methods
3rd generation nanopore sequencing
Adaptive sampling, Cas9-assissted targeted sequencing

Targeted gene and gene panel almost real-time sequencing of DNA sequence and methylation pattern.

Multiple ligation-dependent probe amplification
P250

Analysis of copy number variations characteristic for DiGeorge syndrome.

Single-cell and spatial transcriptomics
10x-based

Analysis of single-cell based transcriptomics and immunomics.

Flow cytometry
primary cells and cell lines

Immunophenotyping, enzyme activity and substrate metabolization at single-cell level.

Transfection
CRISPR-Cas9-based

Cell line generation, clone selection and in vitro studies.

Scientometry > MTMT
International publications: 11
Hungarian publications: 4
Books, book chapters: 1
Dissemination: 4
Patient leaflets: 4
Cumulative impact factor: 93.147
Independent citation: 12 569
h-index: 11 researhgate.com 2025.03
+50
Conference presentations
+100
Scientific talks
+1000
Genetic counselling

Research group members

Diagnostics and research

Sándor Kovács [bioengineer]

Diagnostics and research

Júlia Erhardt [MD student]

Healthcare, diagnostics and research

Luca Kamilla Li [biologist]