Giuseppe Merla

University of Naples Federico II (UNINA)

Biosketch

My group is devoted to biomedical research in the field of human genetic rare diseases and cancer, ranging from clinical to basic research and therapy. Since its establishment in 2004, I have combined classical molecular and cell biology approaches with omics technologies in the study of Chromatinopathies. Specifically, by combining expertise of bioinformaticians and molecule biologists, we have developed skills and expertise in omics techniques such as RNAseq (bulk and and scRNAseq), ChiPSeq, ATAC-seq, and Hi-C. More recently, we set up and applied genome wide DNA methylation workflow as tool for diagnostics and research on Chromatinopathies. Finally, since 2021 I lead the NGS Facility at the Department of Molecular Medicine and Molecular Biotechnologies (University of Naples) fully equipped with the state of art instruments.

Five most recent and project-relevant publications:

1. Kerkhof, et al. (2022) DNA methylation episignature testing improves molecular diagnosis of
   Mendelian chromatinopathies. Genet Med, 24:51-60. [corr. author]
2. Foroutan, et al. (2022) Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. Int J Mol Sci. 23(3):1815.
3. Squeo, et al. (2020) Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. J Med Genet, 57:760-768 [corr. author]
4. Pacelli, et al. (2020) Loss of Function of the Gene Encoding the Histone Methyltransferase KMT2D Leads to Deregulation of Mitochondrial Respiration. Cells, 9:1685 [corr. author]
5. Cocciadiferro, et al. (2018) Dissecting KMT2D missense mutations in Kabuki syndrome patients. Hum Mol Genet, 27:3651-3668 [corr. author]

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