William Kleber Martins Vieira

Contato: williamklebermartins[at]gmail.com, williamkmv[at]usp.br

Current Project

Correction of PolH gene mutated in human cells with CRISPR/Cas

Xeroderma pigmentosum (XP) is a rare, autosomal recessive syndrome related to sun hypersensitivity, skin abnormalities, premature aging and high incidence of tumors. Among XP patient groups, there is a syndrome known as Xeroderma Pigmentosum Variant or XP-V, which has a typical XP phenotype, but has generally milder symptoms. In addition, unlike the other XP groups, they are not deficient in nucleotide excision repair (NER). This group corresponds to approximately 20% of the total XP patients and is deficient in the mechanisms of tolerance to the damage, specifically in the translesion synthesis (TLS). This mechanism allows the bypass of DNA tape damage and replication fork release, collaborating for cell survival and preventing replicative stress and breakage generation. There is still no cure for XP, so the treatment involves removing the lesions that appear on the skin and, especially, preventing the appearance of new lesions. However, the present work aims at correcting mutations known in XPV, using recent genomic editing technology known as CRISPR / Cas. In this way, we will try to use this innovative methodology to develop a gene therapy tool aimed at this syndrome.

Publications

VIEIRA, W. K. M.; NETTO, M. C. M. G. . Avaliação da aplicação de atividades investigativas no processo de ensino de Biologia de uma turma da Educação de Jovens e Adultos - Ensino Médio. In: II Encontro de Iniciação Científica e Pós-Graduação do Campus São Paulo, 2017, São Paulo. Anais do 2º Encontro de Iniciação Científica e Pós-Graduação do Instituto Federal de Educação, Ciências e Tecnologia de São Paulo? Campus São Paulo 2017, 2017.