Ligia Pereira Castro
From Laboratório de Reparo de DNA
Graduada em Ciências Biológicas pela Universidade Federal de São Paulo (UNIFESP). PhD em Biotecnologia pela Universidade de São Paulo (USP). Tem experiência na área de sequenciamento de nova geração para identificação de mutações responsáveis por Síndromes Genéticas relacionadas à deficiências em reparo de DNA. Atualmente é pós doutoranda no Laboratório de Reparo de DNA, Universidade de São Paulo (ICB-USP). Atua na área de Câncer, Quimioterápicos e Síndromes Genéticas raras. | |
Current ProjectGenotypic and phenotypic characterization of xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD) patients in BrazilDeficiencies in nucleotide excision repair lead to human disorders where patients
display photosensitivity and/or neurological problems, such as xeroderma pigmentosum
(XP), cockayne syndrome (CS) and trichothiodystrophy (TTD). Case reports and
genotypic descriptions of patients have been published worldwide, mainly in North
America, Europe, Africa and Japan. The follow up of these patients for decades and the study with these
cells led to the understanding of what is currently known about the molecular pathways and genetic
defects involved in the phenotypes of these syndromes. In Brazil, a few case-reports describe some patients
with these phenotypes, and genetic and molecular characterizations are scarce. With the possibility to
identify mutations directly by Next Generation Sequencing (NGS) technique, we initiated a project to
diagnose the mutations involved in these NER syndromes, mainly XP. Therefore, we also plan to investigate
the origins of these mutations and ancestries by the analysis of haplotypes with SNP-array assays.
Parte da arvore genealógica da comunidade de Araras(GO) 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. |