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Search for founder effects and cellular characterization of cells from brazilian patients with the DNA repair-deficient Xeroderma Pigmentosum disease

Grant number: 18/24923-4
Support type:Scholarships abroad - Research Internship - Post-doctor
Effective date (Start): April 01, 2019
Effective date (End): June 30, 2019
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Carlos Frederico Martins Menck
Grantee:Ligia Pereira Castro
Supervisor abroad: Alain Rene Sarasin
Home Institution: Instituto de Ciências Biomédicas (ICB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Research place: Institut Gustave Roussy, France  
Associated to the scholarship:18/05216-5 - Genotypic characterization of Brazilian xeroderma pigmentosum patients and search for founder effects, BP.PD


Human genetic syndromes deficient in the Nucleotide Excision Repair (NER) pathway are known to display photosensitivity and neurological problems, such as xeroderma pigmentosum (XP). In Brazil, a few case-reports had described patients with these phenotypes, but genetic and molecular characterization data are scarce. In the current post-doc project, we are identifying mutations from Brazilian XP patients. We observed a high frequency of patients from different states with the same mutation, as well as patients with mutations already reported abroad. We plan to investigate the origins of three mutations and their ancestrality by the haplotype analysis from an SNP-array assay that we already performed. In this 3-month period (April to June 2019), we are proposing a collaboration to analyze the haplotypes with a group from France. This connection will provide us training and the tools to analyze the data on the origins of these variants. We expect to gain knowledge of the history of some of these mutations, identifying founder effects and, consequently, some of the migration histories of these XP patients and our population. We also propose to perform cellular characterization of cells from four Brazilian patients under the supervision of Dr. Alain Sarasin. This 3-month period in France will be enough for me to learn the bioinformatics pipeline for the SNP-array analysis, as well as to provide an excellent flux of knowledge from the Centre d'Etudes du Polymorphisme Humain (CEPH) and Institut Gustave Roussy (IGR) groups. (AU)

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