Base Knowledge
Basic knowledge of Biology.
Teaching Methodologies
– Use of audiovisual media for interactive and expositive classes.
– Performing group work for presentation and discussion of related scientific articles.
– Individual or group resolution of proposed problems.
– Viewing and discussion of films related to the subject.
– Indication of a list of recommended bibliography for the subject at the beginning of the academic year and availability of attendance at the Institution at a time set every semester, or to be agreed with the student.
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.
Contribute to the student became able to observe and interpret concrete situations by applying the acquired
knowledge.
Program
Genetics and hearing impairment
1-Basic Genetics (10h)
-Mendell and the history of genetics
-Gene Transcription
-Mutations
-Numerical and structural chromosome abnormalities
-Gene abnormalities.
Human karyotype.
Genetic Testing
Genetic counseling.
2-Genetics in Audiology (15h)
Genetic disorders:
-syndromic
•Alport Syndrome
•Branchio-oto-renal syndrome
•Jervell and Lange-Nielsen syndrome
•Pendred syndrome
•Stickler Syndrome
•Usher syndrome
•Waardenburg Syndrome
•Treacher Collins Syndrome
•Norrie disease
•Wildervank syndrome
•Neurofibromatosis type II
-Non-syndromic
•Nonsyndromic deafness, autosomal dominant
•Nonsyndromic deafness, autosomal recessive
•nonsyndromic deafness, linked to X-chromosome
-Mitochondrial Inheritance
•MELAS; MERRF and SSN
-Chromosome abnormalities:
•Down Syndrome – Trisomy 21
•Edwards Syndrome – Trisomy 18
•Patau Syndrome – Trisomy 13
•Cri du chat syndrome – Chromosome 5p-
•Wolf–Hirschhorn syndrome – Chromosome 4p-.
3 – Gene Therapy(2h)
Curricular Unit Teachers
Internship(s)
NAO
Bibliography
Alberts, B.,1997.Biologia Molecular da Célula.3ª Ed.Editora Artes Médicas
Junqueira, L. C.;Carneiro, J., 1999.Histologia Básica.9ª Ed. Editora Guanabara Koongan, S.ª
Strachan, T.,Read, A. P., 2002.Genética Molecular Humana. 2ª Ed. Editora Artemed
Audiology Diagnosis, 2000. R. J. Roeser; M. Valente; H. Hosford-Dunn. Thieme New York, USA
Regateiro F.J. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2003
Lewis, R., “Human Genetics–concepts and applications” 6th Ed.,Mc Graw-Hill. USA, 2005
Vogel F. e Motulsky A.G.“Human Genetics Problems and Approaches”.3rd edition. Springer Verlag, Berlim, 1997
Gomes, C.A.Genética e Audição. Audiologia em Revista, Porto. ISBN 1646-9070.1:2 (Dezembro, 2008) 107-117
Harper, P.S. Practical Genetic Counselling,6ª Ed. London: Arnold 2004
Griffiths, Anthony J. F.-Introdução à genética. 9ª ed. Guanabara/Koogan, 2008. ISBN 9788527714976
Roeser, R.J., Valente, M.; Hosford-Dunn, H. Audiology: Diagnosis 2nd Ed. New York. Thieme. 2007.