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.
– The assessment will be done through group work (30% weight in the final evaluation of the course), a mini-test (5%) and a written test, frequency (65%), which can dispense with examination (without consultation).
Each evaulation element requires minimum score of 8.5/20.
Final exam.
In exceptional situations the teacher reserves the right to use complementary evaluation tools.
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
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
Internship(s)
NAO
Bibliography
– Lewis, R., “Human Genetics – concepts and applications” 10th Ed., Mc Graw-Hill. USA, 2012.
– Vogel F. e Motulsky A.G. “Human Genetics Problems and Approaches”. 4th Ed. Springer Verlag, 2010.
– Griffiths, Anthony J. F. – Introdução à genética. 10ª ed. Guanabara/Koogan, 2013.
– Regateiro F.J. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2003.
– Alberts, B., 2010. Biologia Molecular da Célula. 5ª Ed. Editora Artes Médicas.
– Gomes, C.A. Genética e Audição. Audiologia em Revista, Porto. ISBN 1646-9070. 1:2 (Dez. 2008) 107-117.
– Harper, P.S. Practical Genetic Counselling, 6ª Ed. London: Arnold 2004.
– Audiology Diagnosis. R. J. Roeser; M. Valente; H. Hosford-Dunn. Thieme, USA. 2000.
– Roeser, R.J., Valente, M.; Hosford-Dunn, H. Audiology: Diagnosis 2nd Ed. Thieme, USA. 2007.
– Martini, A., Read, A. Stephens, D. Genetics and hearing impairment. Whurr Publishers Ltd. 1999.