Clinical Genetics


Modernity of hospital clinical practice is inseparable from knowledge in genetics and genomics, including a wide knowledge about genetic testing, pharmacogenomics, stratification of interventions according to the genetic profile, among other aspects.

This Unit has the following objectives:

  1. Develop the ability to use genetic knowledge in clinical practice
  2. Improve the capacity for using genetic tests
  3. Be able to identify the individual and familial genetic risk as means to perform genetic counseling
  4. Train the access to relevant scientific information on the Internet
  5. Evaluate the reproductive options on genetic risk
  6. Know the ethical, legal and social Medical Genetics.

It is expected that students acquire the ability to identify the potential of pathological mutations inheritance and predict the impact of genetic disease at different levels - for the patient, family, health care and community response - and develop a critical understanding in the application of the human genome knowledge in health strategies and accessibility to genetic testing and pharmacogenomics.

General characterization





Responsible teacher

Prof. Doutor Luís Nunes


Weekly - Available soon

Total - Available soon

Teaching language





The general bibliography will be distributed in the first class, and the specific to each class, by the respective teacher. It is suggested the following general literature:

·         Stevenson RE, Hall JG. Human malformations and related anomalies. Oxford University Press, 1th ed, 2006.

·         Jones KL (ed). Smith´s recognizable patterns of human malformations. Elsevier Saunders, 6th edition, 2006.

·         Harper PS. Pratical genetic counselling. Hodder Arnold, 7th ed, 2010.

·         Ionnidis JPA. Personalized genetic prediction: too limited, too expensive or too soon? Ann Intern Med 2009; 150:139.

·         Collins FS, Green ED, Guttmacher AE, and al. A vision for the future of genomics research. Nature 2003; 422:835-7.

·         Hastings R, de Wert G, Fowler B, and al. The changing landscape of genetic testing and his impact on clinical and laboratory services and research in Europe. Eur J Hum Genet 2012; 20: 911-6.

·         Pallet N, Thervet E. The genetics of kidney transplantation. Hum Genet 2011; DOT 1007//s00439-011 – 1092-8.

·         Hudson KL. Genomics, health care and society. N Engl J Med 2011; 365: 1033-41.

·         ORPHANET – plataforma sobre Doenças Raras –

·         OMIM – base de dados sobre doenças de transmissão mendeliana –

Teaching method

Theoretical and practical lectures

With expository and interactive features between students and teacher; use of multimedia, demonstration of scientific research;  access to web pages and use of specific software; presentation and discussion of clinical cases.

Dynamism of the lecture

At the beginning of the semester, each student will receive the Medical Genetics Theme to be developed until the final written report of the UC. Student may count on the teacher's support to clarify doubts and the best way to guide the final text.

The teacher can boost each lecture using the Faculty’s outside spaces (eg the Medical Genetics consultation at Hospital and Health Care Units’ visit), for exemplification of the presented subject (planning is conditioned to Faculty’s permission and institution’s availability).

Average class time

Each class will have an average duration of 3 hours, considering the first half of the time for theoretical presentation of the theme and the remaining time for presentation of cases and exemplification of the topic.

There are 15 lessons scheduled in the 2nd semester.

Evaluation method

The evaluation will consider three moments – evaluation in group, individual evaluation of a written work and individual oral presentation of the chosen topic.

The group work should consider one of the Medical Genetics topic; students are free to organize small groups of 3-4 persons each, propose the theme and perform the oral presentation in the “five minute talk” format (five minutes to present/five minutes to discuss).

The written work is based on a medical genetics topic assigned at the beginning of the semester. The individual oral presentation (10 minutes) will consider the same theme of the written work; If the student had the opportunity to observe the Medical Genetic Consultation, will have to prepare the report of the consultation and perform the oral presentation, instead.

Subject matter

To achieve the proposed objectives and develop the suggested skills and knowledge, the syllabus of this course are distributed in 3 groups:

a)      knowledge on essential genetics, which include topics as:

Introduction to clinical practice im Medical Genetics

Risk calculation in genetic diseases

Molecular mechanisms of genetic disease, clinical variability and genetic testing

b)      Diagnostic instruments in medical genetics, including:

Pharmacogenetics and orphan drugs

Neonatal screening and throughout life cycle: value in Public Health

Approach to the dysmorphic patient

Information, literacy and genetic counselling

Ethical, legal and social aspects

c)      Cases:

Congenital anomalies and rare diseases

Syndromes with craniofacial and/or limbs anomalies

Genetics of cardiovascular disease


Genetic diseases of late expression

Neurodevelopment genetic disorders


Programs where the course is taught: