Ligia Pereira Castro

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Revisão de 14:07, 16 Abril 2018
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-== Resumo do Projeto ==+== Current Project ==
-===Caracterização fenotípica e genotípica de pacientes xeroderma pigmentosum brasileiros no estado de Goias===+===Genotypic and phenotypic characterization of xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD) patients in Brazil ===
-Este projeto visa à caracterização genotípica e fenotípica das células de pacientes diagnosticados clinicamente com a doença xeroderma pigmentosum (XP), em uma comunidade no distrito de Araras, Município de Faina, em Goiás. Estudos têm demonstrado que os diferentes tipos de XP apresentam comportamentos específicos diante dos diferentes tratamentos das células com quimioterápicos, assim o presente estudo visa estudar como essas células comportam-se frente a diferentes estresses genotóxicos e ao tratamento com quimioterápicos, tais como Cisplatina, Nimustina (ACNU) e Doxorrubicina, o que contribuirá para o diagnóstico destes pacientes. Este projeto pretende identificar a mutação genética responsável por esta doença, o que permitirá desenvolver um teste molecular rápido e específico baseado em PCR, para identificação do haplótipo mutado. Esperamos que essa metodologia possa ser usada no futuro com o desenvolvimento de um teste de diagnóstico molecular, o qual identificará indivíduos afetados ao nascer, além dos indivíduos heterozigotos. Isto será determinante como um método de diagnóstico clínico e aconselhamento genético de famílias com histórico de XP daquela região do país.+Deficiencies 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.
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<center> <center>
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[[Image:ArvoreLigia.png|350px]] [[Image:ArvoreLigia.png|350px]]
<br> <br>
Parte da arvore genealógica da comunidade de Araras(GO) Parte da arvore genealógica da comunidade de Araras(GO)
<br> <br>
 +</center>
- +== Publications ==
-</center>+Munford V*, <b>Castro LP*</b>, 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. <br> <br>
 +Pedroso JL, Munford V, Bastos AU, <b>Castro LP</b>, Marussi VHR, Silva GS, Arita JH, Menck CFM, Barsottini OG
 +(2017). LMNB1 mutation causes cerebellar involvement and a genome instability defect. Journal of the
 +Neurological Sciences. 379:249-252. <br> <br>
 +Lerner LK, Francisco G, Soltys DT, Rocha CR, Quinet A, Vessoni AT, <b>Castro LP</b>, David TI, Bustos SO, Strauss
 +BE, Gottifredi V, Stary A, Sarasin A, Chammas R, Menck CF (2016). Predominant role of DNA polymerase eta
 +and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells. Nucleic Acids
 +Research. 45 (3), 1270-1280.<br><br>

Revisão de 14:07, 16 Abril 2018

Graduada em Ciências Biológicas pela Universidade Federal de São Paulo (UNIFESP). Atualmente desenvolve o projeto; Determinação de mutação genética de isolado genético de xeroderma pigmentosum em Goiás; no Instituto de Ciências Biológicas (ICB-II), Laboratório de Reparo de DNA - Prof. Dr. Carlos F.M. Menck.



Current Project

Genotypic and phenotypic characterization of xeroderma pigmentosum (XP), cockayne syndrome (CS) and trichothiodystrophy (TTD) patients in Brazil

Deficiencies 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)

Publications

Munford 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.

Pedroso JL, Munford V, Bastos AU, Castro LP, Marussi VHR, Silva GS, Arita JH, Menck CFM, Barsottini OG (2017). LMNB1 mutation causes cerebellar involvement and a genome instability defect. Journal of the Neurological Sciences. 379:249-252.

Lerner LK, Francisco G, Soltys DT, Rocha CR, Quinet A, Vessoni AT, Castro LP, David TI, Bustos SO, Strauss BE, Gottifredi V, Stary A, Sarasin A, Chammas R, Menck CF (2016). Predominant role of DNA polymerase eta and p53-dependent translesion synthesis in the survival of ultraviolet-irradiated human cells. Nucleic Acids Research. 45 (3), 1270-1280.

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