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Gene expression profiling in CdLS cell lines

Grant number: 23/15065-2
Support Opportunities:Scholarships abroad - Research Internship - Doctorate (Direct)
Effective date (Start): March 01, 2024
Effective date (End): September 30, 2024
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Maria Isabel de Souza Aranha Melaragno
Grantee:Thainá Vilella Rodrigues Maria
Supervisor: Valentina Massa
Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
Research place: Università degli Studi di Milano, Italy  
Associated to the scholarship:22/09582-1 - Assessment of mitotic and genomic stability of lymphoblastoid cells from patients with Cornelia de Lange Syndrome, BP.DD


Cornelia de Lange Syndrome (CdLS) is a rare multisystem genetic disease that has diverse physical, cognitive, and behavioral characteristics. CdLS is considered a cohesinopathy since is caused by genetic variations in genes that affect the regulation of cohesin, which is a protein complex that has regulatory factors for the cell cycle, being essential for cell survival and maintenance of genome stability. There are several genes coding for component of this complex that can be altered in individuals with CdLS, among them the NIPBL is the gene more frequently involved in the disease. This study aims to evaluate gene expression profiling in cell lines from patients Cornelia de Lange Syndrome with pathogenic variants in the NIPBL, SMC1A and HDAC8. Gene expression together with further downstream analyses will improve the understanding of the etiopathogenesis of the disease and its correlation with the clinical features of the patients.

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