- PhD student; MSc
- +47 93969183
Chiara Cappelletti has a Master of Science degree in Biology Applied to Research in Biomedicine from the Department of Biosciences, Università degli Studi di Milano 26.02.2018. She did her master thesis in the PD research group at Oslo University Hospital. The title of her thesis was “The SNCA gene in familial and sporadic Parkinson’s disease. Differences in SNCA 5’-UTR transcript expression levels between blood and brain and association of rs35 6182 with a specific SNCA 5’-UTR transcript. Overexpression of p.K58N alpha-synuclein in SH-SY5Y cell line and cell viability assessment”.
Cappelletti worked as research assistant in the PD research group (September-December 2017, May-December 2018) focusing on the generation of stable transfected cell lines and the isolation of CD4, CD8, CD14 and CD19 cells from blood.
Cappelletti is currently working on her PhD entitled “An advanced study of Multiple Sclerosis and Parkinson’s Disease big-data to identify molecular mechanisms for disease risk”.
This project makes use of state-of-art technologies such as chromatin immunoprecipitation sequencing and RNA sequencing to address two main hypotheses:
- MS associated risk variants in vitamin D receptor (VDR) binding sites are affecting binding of VDR and thereby gene expression of the corresponding genes.
- PD associated risk variants in SNCA are affecting binding of defined transcription factors and thereby gene expression of genes in the SNCA region.
Main supervisor: Tone Berge (MSc, PhD)
Co-supervisor: Mathias Toft (MD, PhD)
- Gene expression
- Molecular biology
- Chromatin Immunoprecipitation Sequencing
- RNA sequencing data
- Isolation and cultivation of primary, human T cells
- Cultivation, transfection and differentiation of cells (SH-SY5Y, HEK293T, HeLa, LUHMES)
- RNA and DNA isolation
- Quantitative real-time PCR
- Western Blotting
Iqbal, J. Koht, L. Pihlstrøm, S. P. Henriksen, C. Cappelletti, M. B. Russel, O. N. De Souza, I. M. Skogseid, and M. Toft. Missense mutations in DYT-TOR1A dystonia. Neurology Genetics 2019;5(4), e343.
DOI: 10.1212/NXG.0000000000000343 PubMed 31321303
Pihlstrøm, C. Blauwendraat, C. Cappelletti, V. Berge-Seidl, M. Langmyhr, S. P. Henriksen, W. D. J. van de Berg, J. R. Gibbs, M. R. Cookson, the International Parkinson Disease Genomics Consortium (IPDGC), the North American Brain Expression Consortium (NABEC), A. B. Singleton, M. A. Nalls, and M. Toft. A comprehensive analysis of SNCA-related genetic risk in Parkinson's disease. Annals of Neurology 2018;84(1):117–29.
DOI: 10.1002/ana.25274 PubMed 30146727
Allele-specific expression of Parkinson's disease susceptibility genes in human brain
Sci Rep, 11 (1), 504
Missense mutations in DYT-TOR1A dystonia
Neurol Genet, 5 (4), e343
A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease
Ann Neurol, 84 (1), 117-129