In the Laboratory of Genetics and Molecular Medicine, we focus on the human genetic dissection of rare childhood diseases of the immune system and liver upon primary infection with common pathogens or unknown causes. We test a general hypothesis that inborn monogenic errors may underlie susceptibility to such diseases in at least some children. Our research program combines genome-wide approaches and detailed mechanistic studies. Candidate disease-causing rare mutations in such patients are discovered by whole exome sequencing and the impact of mutant alleles are functionally investigated in patients’ cells and relevant cell lines by various biochemical and cellular assays. In parallel, in vitro/ex vivo disease models based on a relevant cellular phenotype are generated utilizing virus infections, co-culture systems or gene-editing technologies, in order to establish a causal bridge between the candidate genotype and the clinical phenotype.
In collaboration with Timucin Lab, we are also interested in discovery and development of novel agonists/antagonists targeting the interactions between human inflammatory mediators, such as cytokines and their receptors.
Collaborators
Timucin Lab
https://timucinlab.com
Funding
