The Functional Genomics Research Unit is dedicated to biomedical research on rare human genetic diseases, encompassing clinical research, basic science, and therapeutic development. Since its inception, the unit has integrated molecular and cellular biology approaches, including patient-derived induced pluripotent stem cells (iPSCs) and organoids, with state-of-the-art omics technologies. The team has cultivated expertise in advanced techniques such as transcriptomics (bulk RNAseq and scRNAseq), ChiP-Seq, and multiomics approaches like ATAC-Seq, providing robust support for projects in medical genetics and oncology. More recently, through epigenetic studies, the unit has developed a molecular diagnostic method to complement traditional analyses for a wide range of neurodevelopmental genetic disorders.
The primary research areas include:
- Investigating the pathogenetic mechanisms of Kabuki Syndrome and related conditions: Known as chromatinopathies, these disorders are studied using cellular models (hiPSCs), organoids, advanced omics technologies, and mathematical models (machine learning) to analyze complex data.
- Studying IDDCA Syndrome: This congenital disorder, characterized by psychomotor developmental delay, severe intellectual disability, marked bradycardia, visual abnormalities, and epilepsy, is being explored to uncover the molecular mechanism caused by GNB5 gene mutations. The project integrates electrophysiological, biochemical, and omics studies on cardiac and neuronal cells derived from iPSCs generated from patient fibroblasts.
- Understanding FSGSNEDS Syndrome: A neuro-renal syndrome caused by mutations in the TRIM8 gene, which encodes a novel ciliary protein. By developing renal organoids and employing single-cell transcriptomics (scRNAseq), the team is characterizing the dysregulated pathways involved in the disease.
