Ligia Pereira Castro
From Laboratório de Reparo de DNA
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- | |Graduada em <b>Ciências Biológicas</b> pela <b>Universidade Federal de São Paulo (UNIFESP)</b>.<br>PhD em <b>Biotecnologia</b> pela <b>Universidade de São Paulo (USP)</b>.<br><br> Tem experiência na área de sequenciamento de nova geração para identificação de mutações responsáveis<br> por Síndromes Genéticas relacionadas à deficiências em reparo de DNA. <br><br> Atualmente é <b>pós doutoranda</b> no Laboratório de Reparo de DNA, <b>Universidade de São Paulo (ICB-USP)</b>.<br>Atua na área de Câncer, Quimioterápicos e Síndromes Genéticas raras. | + | |BSc,<b>Biological Sciences</b>, <b>Universidade Federal de São Paulo (UNIFESP)</b>.<br>PhD <b>Biotechnology</b>,<b>Universidade de São Paulo (USP)</b>.<br><br> Has experience in Cell Biology, Molecular Biology and Next Generation Sequencing (NGS) on the identification of causative mutations for Mendelian diseases related to DNA repair deficiencies. <br><br> Ligia is a post doctoral researcher in the DNA Repair Lab - <b>Institute of Biological Sciences at University of Sao Paulo</b> since 2016. .<br> Research keywords: Cancer, Chemotherapy and Rare Mendelian Disorders. |
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Revisão de 14:43, 16 Abril 2018
BSc,Biological Sciences, Universidade Federal de São Paulo (UNIFESP). PhD Biotechnology,Universidade de São Paulo (USP). Has experience in Cell Biology, Molecular Biology and Next Generation Sequencing (NGS) on the identification of causative mutations for Mendelian diseases related to DNA repair deficiencies. Ligia is a post doctoral researcher in the DNA Repair Lab - Institute of Biological Sciences at University of Sao Paulo since 2016. . Research keywords: Cancer, Chemotherapy and Rare Mendelian Disorders. | |
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. |