Base Knowledge
Basic knowledge of Biology.
Teaching Methodologies
– Use of audio-visual materials for expository and interactive lessons.
– Remote teaching may occur in some content (<15 hours).
– Group work for presentation and discussion of scientific articles; Individual and group resolution of proposed problems.
– Viewing and discussion of films related with the course.
– The recommended bibliography for the discipline is provided in beginning of the school year as well the professor’s weekly timetable to attend students. It is also possible for the student to schedule an individual assistance.
Learning Results
The student must have the knowledge about the terms related to the various segments of genetics and also know the basics of genetics necessary to understand the biological processes of the human body and the transfer characteristics between individuals.
To transmit to the student basic knowledge about genetics in order to facilitate the understanding of normal or pathological situations associated with changes.
Contribute to the student became able to observe and interpret concrete situations by applying the acquired knowledge.
Program
A. MOLECULAR BIOLOGY:
1. Nucleic acids – DNA and RNA.
2. DNA replication.
3. Information transfer – from DNA to protein: transcription and translation.
B. GENETICS AND DEAFNESS:
1. Basic Genetics:
Mendell and genetics.
Mutations:
– Gene abnormalities,
– Numerical and structural chromosome abnormalities.
Genetic Testing and Human karyotype.
Population Genetics.
Genetic counseling.
Gene Therapy.
2. Genetics in Audiology:
2.1 Genetic disorders:
– Syndromic:
Syndromes: Alport, Branchio-oto-renal (BOR), Jervell and Lange-Nielsen (JLNS), Pendred, Stickler, Usher, Waardenburg, Treacher Collins, Norrie, Wildervank and Neurofibromatosis type 2.
– Non-syndromic:
Autosomal nonsyndromic deafness: dominant, recessive and linked to X-chromosome.
– Mitochondrial Inheritance:
MELAS; MERRF and SSN.
Chromosome abnormalities:
Numeric: Trisomy 21, 18 and 13.
Structural: 5p- and 4p- chromosomal disease.
2.2 Genetics of aging.
2.3 Genetics and vestibulogy.
C. THEORETICAL-PRACTICAL:
Presentation and discussion of articles and works.
Evaluation.
Curricular Unit Teachers
Celia Margarida Alcobia GomesInternship(s)
NAO
Bibliography
Primary bibliography:
– Junqueira, L.C.; Carneiro, J. 2004. Histologia Básica 10ª Ed. Editora Guanabara Koogan, Rio de Janeiro.
– Wheater, P. R., et al. Histologia Funcional. Editora Guanabara Koogan, Rio de Janeiro.
– Azevedo C.; Sunkel, CE. 2012. Biologia Celular. 5ª Ed. Lidel, Edições Técnicas, Lisboa.
– Moore, K.L.; Persaud, T.V.N. 2000. Embriologia Básica. 5ª Ed. Editora Guanabara Koogan, Rio de Janeiro.
– Sadler, T.W. 2013. Langman – Embriologia Médica. 12ª Ed. NOVA GUANABARA. Brasil.
– Herdman, S.J. 2002. Reabilitação Vestibular. 2ª Ed. Editora Manole Ltda. São Paulo.
– Ruah, S.A.B. & Ruah, C.B. Manual de Otorrinolaringologia. Volume II. Editora Roche Farmacêutica Química, Lda. ISBN 972-8454-01-5.
– STEPHENS, Dafydd; JONES, Lesley, ed. lit. – The effects of genetic hearing impairment in the family. Chichester : John Wiley & Sons, cop. 2006. xiv, [2], 359 p. ISBN 978-0-470-02964-0 .
– Roeser, R.J., Valente, M.; Hosford-Dunn, H. Audiology: Diagnosis 2nd Ed. New York. Thieme. 2007. ISBN 978-1-58890-542-0. 100-121.
Secondary bibliography:
– Schoenwolf, G. & Bleyl, S. & Brauer, P. & Francis-West, P. 2014. Larsen’s Human Embryology, 5th Ed. Elsevier – Churchill Livingstone. USA.
– Romero, MEC; Salcedo, PGH; Dorado, AM; Tomazini Ortiz, PG. 2005. Embriologia: biologia do desenvolvimento. 1ª Ed. 2005. Iátria, São Paulo. ISBN: 85-7614-033-0 .