Genetics and Molecular Biology in Craniofacial Malformations and Other Disorders • HRB4093



Lucimara Teixeira das Neves





(per week)
(per week)
(per week)
Duration Total
8h 1h 1h 6 weeks


Discuss concepts of genetics, molecular biology, Mendelism and the evolution of concepts in genetics from the limitations of the Mendelian pattern. To present the methodological possibilities in molecular biology so that it’s possible distinguish, discuss or even apply these different modern methodologies in the diagnosis of congenital disorders. 

In this context, it will also be proposed to discuss the various syndromes and other complex diseases and their etiologies. In addition, to stimulate research in the field of genetics and molecular biology. 



The discussion on the evolution of concepts in genetics and molecular biology and its application in normal and defective human development, provides elements for understanding the biological, molecular and heredity mechanisms applied to the diagnosis of monogenic diseases and complex diseases.

In this context, it provides students with a reflection and better understanding of various malformations involving craniofacial anomalies syndromes of different etiologies. It also makes it possible to update knowledge, in view of the progress of research in the field of genetics and molecular biology. 



Introduction to genetics
Dogma of Molecular Biology
Structure of genes and genomes 
Gene expression 
Gene and mutations  
Monogenic diseases and complex diseases 

Genetic etiology in craniofacial development disorders 
Teratogenic agents 

Genetic aspects of syndromic clefts 
Genetic aspects of non-syndromic clefts 
Modern methods of diagnosis using technologies in Molecular Biology 



Thompson & Thompson. Genética Médica. Elsevier, 2016.

Griffiths. Introdução a Genética, 9ª. Ed., 2009.

GORLIN et al. Syndromes of the heard and Nick. 3 ed. New York, Oxford University Press; 1990.

He M, Bian Z. Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population. PLoS One. 2016 Jul 26;11(7).

Gowans LJ, Adeyemo WL, Eshete M, et al. Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.J Dent Res. 2016.

Klug, WS, Cummings, MR, Palladino, MA, Spencer, CA. Conceitos de Genética. Artmed, 9ª ed., 2010.

Merks JHM, Van Karnebeek CDM, Caron HN, Hennekam RCM. Phenotypic abnormalities: terminology and classification. Am J Med Genet 2003; 123:211-30.

Nussbaum RL, McInnes RR, Willard HF. Genética médica. Rio de Janeiro: Guanabara Koogan; 2002.

Pengelly RJ, Arias L, Martínez J, et al. Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes. Sci Rep. 2016 Jul 26;6:30457.



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Seção de Pós-Graduação HRAC-USP

Horário de atendimento: de segunda a sexta-feira, das 8h às 18h (exceto feriados) | e-mail: