RAUi001-B

Cellular dysfunction, the fundamental basis of all human diseases, underpins the pathophysiology of numerous disorders. This program presents a overview of research initiatives focused on advancing human health through the development of diagnostic, preventive, and therapeutic strategies. These projects are conducted in collaboration with multiple research institutions and are supported by diverse grant funding mechanisms.

In this project genetic engineering and functional genomics approaches will be used to describe molecular mechanisms of FMF. Using DNA/RNA samples obtained from FMF patients and healthy subjects MEFV nanopore gene sequencing will be performed to identify genetic variants and possibly find novel putative functional variants. The impact of genetic variants on transcriptome landscape will be studies by RNA-sequencing using nanopore sequencing device. Based on MEFV sequencing data and patients clinical ...

Patient-specific induced pluripotent stem cells (iPSCs) are reprogrammed somatic cells derived from individual patients through the expression of key transcription factors (e.g., OCT4, SOX2, KLF4, and c-MYC). These cells exhibit pluripotency, allowing them to differentiate into various cell types and serve as in vitro models for studying disease mechanisms, drug screening, and regenerative medicine.