William Kleber Martins Vieira
From Laboratório de Reparo de DNA
Lic, Biological Sciences, Instituto Federal de Educação, Ciência e Tecnologia de São Paulo (IFSP). Has experience in Cell Biology, Molecular Biology, Atmospheric Pollution, Research teaching and DNA repair deficiencies. Will is a master´s degree student in the DNA Repair Lab – Biomedical Sciences Institute at University of Sao Paulo since 2018. Research keywords: XPV, CRISPR and Gene Therapy Lattes. Contato: williamklebermartins[at]gmail.com, williamkmv[at]usp.br | |
Current ProjectCorrection of PolH gene mutated in human cells with CRISPR/CasXeroderma 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.
PublicationsMunford V*, Castro LP*, Souto R, Lerner LK, Vilar JB, Quayle C, Asif H, Schuch AP, de Souza TA, Ienne S,
Alves FIA, Moura LMS, Galante PAF, Camargo AA, Liboredo R, Pena SDJ, Sarasin A, Chaibub SC, Menck CFM
(2017). A genetic cluster of patients with variant xeroderma pigmentosum with two different founder
mutations. British Journal of Dermatology. 176 (5), 1270-1278. |