Eduardo Padilha Antonio
From Laboratório de Reparo de DNA
Revisão de 18:41, 24 Abril 2018
| Graduando em Farmácia-Bioquímica pela Universidade de São Paulo (FCF-USP) e violinista pela Academia Adventista de Arte (2014). Foi aluno do Programa de Pré-Iniciação Científica da FUSP (2013), bolsista de Iniciação Científica Júnior CNPq (2014) e Coordenador Regional da Associação Brasileira de Incentivo à Ciência (ABRIC). Hoje é bolsista de IC (FAPESP) sob orientação do Prof. Dr. Carlos Menck e Dra. Veridiana Munford. Para além do laboratório, se interessa pela interseção entre design, filosofia, ciência e arte, com projetos reconhecidos no Brasil (CampusParty/Hiperorganicos8), Chile (GOSH), Estados Unidos (MIT/FabLabHub/iGEM) e Grécia (TTT-Corfu). No mais, se esforça para não explodir o laboratório e manter as células vivas! Contato: ligia.pereiracastro[at]gmail.com |
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[editar] Current Project[editar] Genotypic 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.
[editar] 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. |
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