Genetics in Audiology

Basic knowledge of Biology.

– 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.

The student should have knowledge about terms related to the various segments of genetics and also possess the genetic basis for understanding the biological processes of the human organism and the transmission of characteristics amongst individuals.
Transmit to the student basic notions about genetics in order to facilitate the understanding of normal or pathological situations associated with alterations.
To contribute so that the student, in the light of the knowledge acquired, has the ability to observe and interpret concrete situations.

Genetics and hearing impairment

1 – Basic Genetics                           (7h)
– Mendell and the history of Genetics
– Gene Transcription
– Mutations
– Numerical and structural chromosomal abnormalities
– Genetic anomalies.
Human Karyotype.
Genetic Tests
Genetic Counseling.

2 – Genetics in Audiology                      (16h)
Genetic pathologies:
– Syndromic
– Alport Syndrome
– Branchio-oto-renal syndrome (BOR)
– Jervell and Lange-Nielson Syndrome (JLNS)
– Pendred syndrome
– Stickler syndrome
– Usher syndrome
– Waardenburg syndrome
– Treacher Collins syndrome
– Norrie syndrome
– Wildervank syndrome
– Neurofibromatosis type 2
– Non-syndromic
– Autosomal dominant hearing impairment (DFNA)
– Autosomal recessive hearing loss (DFNB)
– X-chromosome related hearing impairment (DFNX)
– Mitochondrial inheritance
– MELAS; MERRF and SSN
– Chromosomal defects
– Down Syndrome – Trisomy 21
– Edwards’ syndrome – Trisomy 18
– Patau’s syndrome – Trisomy 13
– Cat’s Meow syndrome – Chromosome 5p-.
– Wolf-Hirschhorn Syndrome – Chromosome 4p-.

3 – Genetic of Aging (2h)

4 – Gene Therapy (2h)

 The missing hours/classes are for presentation and evaluation.

NAO

Primary bibliography:

1. Strachan, T., Read, A. P., 2013. Genética Molecular Humana. 4ª Ed. Editora Artemed.

2. Lewis, R., “Human Genetics – concepts and applications” 10th Ed., Mc Graw-Hill. USA, 2012.

3. Vogel F. e Motulsky A.G. “Human Genetics Problems and Approaches”. 4th Ed. Springer Verlag, Berlim, 2010.

4. Griffiths, Anthony J. F. – Introdução à genética. 10ª ed. Guanabara/Koogan, 2013.

5. Regateiro F.J. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2003.

6. Alberts, B., 2010. Biologia Molecular da Célula. 5ª Ed. Editora Artes Médicas.

7. Junqueira, L. C.; Carneiro, J., 2013. Histologia Básica. 12ª Ed. Editora Guanabara Koongan, S.ª

8. Gomes, C.A. Genética e Audição. Audiologia em Revista, Porto. ISBN 1646-9070. 1:2 (Dezembro, 2008) 107-117.

9. Audiology Diagnosis, 2000. R. J. Roeser; M. Valente; H. Hosford-Dunn. Thieme New York, USA.

10. Roeser, R.J., Valente, M.; Hosford-Dunn, H. Audiology: Diagnosis 2nd Ed. New York. Thieme. 2007.

11. Martini, A., Read, A. Stephens, D. Genetics and hearing impairment. London. Whurr Publishers Ltd. 1999.

12. Monteiro L, et al. Audiologia, som e audição das bases à clínica. Círculo Médico. Lisboa 2018.

Netnography:

– http://hearing.harvard.edu/info/guides.htm

– Hereditary Hearing Loss Homepage.htm

– Human Genetics Laboratory – Kresge Hearing Research Institute.htm

– Connexins and deafness.htm

– http://www.deafgene.info/index.htm

– https://www.omim.org/

 
Secondary bibliography:

– Harper, P.S. Practical Genetic Counselling, 6ª Ed. London: Arnold 2004.