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Molecular Genetic Diagnostic

Code: 101973 ECTS Credits: 6
2025/2026
Degree Type Year
Genetics OB 3

Contact

Name:
Massimo Bogliolo
Email:
massimo.bogliolo@uab.cat

Teachers

Jordi Surralles Calonge
Massimo Bogliolo

Teaching groups languages

You can view this information at the end of this document.


Prerequisites

It would be appropriate to have passed and achieved the competences corresponding to the subjects: Molecular biology of eukaryotes, Cytogenetics and Human Genetics. A part of the seminars will be conducted in English and therefore it would be better for students to have a minimum level of knowledge of English in order to continue the course.


Objectives and Contextualisation

The main objectives of this subject are:

  • Understand and be able to describe the main molecular analysis techniques usually used in the genetic diagnosis.
  • Select with critical sense the most appropriate diagnostic techniques in each case.
  • Be able to propose a project for molecular genetic diagnosis in the field of health.

Competences

  • Act with ethical responsibility and respect for fundamental rights and duties, diversity and democratic values. 
  • Apply an entrepreneurial spirit in the area of genetics and genomics from an integrated vision of R+D+I processes.
  • Apply knowledge of theory to practice.
  • Appreciate the importance of quality and a job well done.
  • Assume ethical commitment
  • Be able to analyse and synthesise.
  • Be sensitive to environmental, health and social matters.
  • Describe epigenetic mechanisms.
  • Design and interpret studies associating genetic polymorphisms and phenotypical characters to identify genetic variants that affect the phenotype, including those associated to pathologies and those that confer susceptibility to human illnesses or those of other species of interest.
  • Develop creativity.
  • Make changes to methods and processes in the area of knowledge in order to provide innovative responses to society's needs and demands. 
  • Measure and interpret the genetic variation in and between populations from a clinical, conservational and evolutionary perspective, and from that of the genetic improvement of animals and plants.
  • Perform genetic diagnoses and assessments and consider the ethical and legal dilemmas.
  • Produce, direct, execute and assess projects where knowledge of genetics or genomics is necessary.
  • Take account of social, economic and environmental impacts when operating within one's own area of knowledge. 
  • Take sex- or gender-based inequalities into consideration when operating within one's own area of knowledge.
  • Take the initiative and demonstrate an entrepreneurial spirit.

Learning Outcomes

  1. Act with ethical responsibility and respect for fundamental rights and duties, diversity and democratic values. 
  2. Apply knowledge of theory to practice.
  3. Appreciate the importance of quality and a job well done.
  4. Assume ethical commitment
  5. Be able to analyse and synthesise.
  6. Be sensitive to environmental, health and social matters.
  7. Choose the most suitable techniques to estimate epigenetic changes in each clinical case.
  8. Critically select suitable techniques for genetic diagnosis
  9. Describe the clinical consequences derived from epigenetic control mechanisms.
  10. Describe the techniques to evaluate epigenetic changes to hereditary material.
  11. Develop creativity.
  12. Enumerate and describe the different techniques for analysing DNA polymorphisms that can be applied to studies of genetic variation associated to human pathologies.
  13. Explain how knowledge of human genetic variation is applied to personalised medicine, pharmacogenomics and nutrigenomics.
  14. Expose the ethical implications of genetic diagnosis.
  15. Integrate underlying theoretical knowledge in tests used in genetic diagnosis to resolve potential sources of error in results.
  16. Interpret the results obtained using techniques for the analysis of DNA polymorphisms to identify and evaluate factors of susceptibility and propensity to suffer illnesses.
  17. Make changes to methods and processes in the area of knowledge in order to provide innovative responses to society's needs and demands. 
  18. Propose entrepreneurial genetics and genomics projects in the field of health.
  19. Propose genetics or genomics projects that are applicable to the field of human health.
  20. Take account of social, economic and environmental impacts when operating within one's own area of knowledge. 
  21. Take sex- or gender-based inequalities into consideration when operating within one's own area of knowledge.
  22. Take the initiative and demonstrate an entrepreneurial spirit.

Content

Theory

  1. Causes of phenotypic changes
  2. Genetic variants interpretation
  3. Hybridizations of nucleic acids
  4. Blotting techniques
  5. Molecular cytogenetic techniques
  6. Analysis of PCR amplification products
  7. Quantitative PCR
  8. Liquid biopsy
  9. General techniques for SNP detection
  10. Use of microarrays
  11. New sequencing techniques applied to diagnostic

External seminars

It will consist of seminars given by specialists on the molecular genetic diagnosis of various genetic specific diseases or groups of diseases, which includes specific clinical cases.

Seminars given by the students

The content will be agreed with the responsible professor.

 

 


Activities and Methodology

Title Hours ECTS Learning Outcomes
Type: Directed      
External Seminars 5 0.2 4, 6, 11, 22, 3
Seminars by the students 8 0.32 2, 11, 22, 5, 3
Theory lessons 30 1.2 2, 5, 3
Type: Supervised      
Individual tutorials 4 0.16 4, 6, 11, 22, 3
Type: Autonomous      
Bibliografic Research 16 0.64 5
Study 72 2.88 2, 5
Work at Campus Virtual 10 0.4 4, 6

Theory classes: The student acquires their own scientific knowledge of the subject attending lectures: master classes with ICT support, which will complement with the personal study of the exposed topics. The material used in class can be found by the student in the "teaching material" tool of the Virtual Campus. These classes are conceived as a fundamentally unidirectional method of transmitting knowledge from the teacher to the student that forces them to develop autonomous learning strategies outside class.

Classes of external seminars: The knowledge acquired in the theory classes and the personal study is complemented in the seminars where specialists in the field of Clinical Genetics present the cases in which they work in which the techniques studied in the theory classes. Some of thesewill include the analysis ofspecific clinical cases. A part of the external seminars will be given in English.

Seminars given by students: Students will have to make a seminar in an oral presentation format with ICT support. These seminars will be held in groups of two students that will present cases of applications of molecular techniques in the diagnosis of genetic diseases following the model of external seminars and applying the knowledge acquired to the theory classes. The subject of the seminar will be agreed with the teacher in sufficient time. It will be valued positively that the seminars are in English.

Activities in the Virtual Campus: The student will be able to continue working with the contents of the subject through different proposals of activities that will find in the educational space of the subject in the Virtual Campus.

 

Annotation: Within the schedule set by the centre or degree programme, 15 minutes of one class will be reserved for students to evaluate their lecturers and their courses or modules through questionnaires.


Assessment

Continous Assessment Activities

Title Weighting Hours ECTS Learning Outcomes
Exam of seminars 22,5% 1.75 0.07 1, 21, 20, 2, 4, 6, 9, 10, 11, 12, 7, 13, 14, 15, 16, 17, 22, 19, 18, 8, 5, 3
Exam of Theory 50% 1.75 0.07 1, 21, 20, 2, 4, 6, 9, 10, 11, 12, 7, 13, 14, 15, 16, 17, 22, 19, 18, 8, 5, 3
Participation in Campus Virtual 5% 0.7 0.03 2, 4, 6, 11, 14, 22, 19, 18, 5
Seminar byt the student 22,5% 0.8 0.03 2, 4, 6, 11, 22

  1. The content of the theoretical part will be evaluated through an objective exam. The grade for this part corresponds to 50% of the final grade.

  2. Students must complete a mandatory seminar in groups of two. The evaluation of the seminars will be conducted through an exam that will include both external seminars and those given by the students. Additionally, the professor will also evaluate the presentation made by each student in the seminars and will positively value students who give their presentation in English. The grade for this evaluation will correspond to 45% of the final grade, of which 50% corresponds to the seminar exam and 50% to the evaluation of the seminars given by the students.

  3. Finally, students' active participation in the various activities proposed in the course's space on the Virtual Campus will also be evaluated (a 5% of the final grade).

  4. Presenting the internal seminar in English will increase the final overall grade by 0.5 out of 10.

  5. At the end of the presentations, students will vote for the best one. The winning group will be awarded an additional 0.5 points on their seminar evaluation grade. Only students who have attended 100% of the seminars in person will be able to vote and be eligible for the award.

Students interested in improving their final grade have the option to take a re-examination for both the theory and seminar component. Opting for the re-examination waives any previously obtained grade.

To pass, a weighted final grade of at least 4.9 must be achieved. A student who fails to obtain this grade will be marked as "failed" or "non-evaluable" if no exams were taken.

To be eligible for the retake process, the student should have been previously evaluated in a set of activities equaling at least two thirds of the final score of the course or module.Thus, the student will be graded as "No Avaluable" if the weighthin of all conducted evaluation activities is less than 67% of the final score

 

Single assessment

The single assessment consists of a single exam in which the contents of the entire theory and seminars program of the course will be evaluated in the form of a theoretical-practical test. The test will consist of multiple-choice questions and written answers. The grade obtained in this synthesis test will account for 72.5% of the final grade for the subject (50% for the theory part and 22.5% for the seminars part). To pass this test it is necessary to achieve a minimum score of 4,9.

Students who take advantage of the single assessment must compulsorily present the seminars in face-to-face sessions and under the same conditions as in the conventional assessment (22.5% of the final grade).

The single evaluation test will be carried out coinciding with the last partial evaluation test and the same recuperation system will be applied as for the conventional evaluation.

Use of AI

For this course, the use of Artificial Intelligence (AI) technologies is permitted exclusively for support tasks, such as bibliographic or information searches, text correction, or translations.

For submissions on the Virtual Campus (CV) and in seminars, the student must clearly identify which parts have been generated with this technology, specify the tools used, and include a critical reflection on how they have influenced the process and the final outcome of the activity.

The non-transparent use of AI in this assessable activity will be considered a lack of academic honesty and may lead to a partial or total penalty in the activity's grade, or more significant sanctions in serious cases.

 

 


Bibliography

Ginsburg, G.S. and H.F. Willard (2010) Essentials of Genomic and Personalized Medicine. Elsevier (http://www.sciencedirect.com/science/book/9780123749345)
Mülhardt, C. and E.W. Beese (2007) Molecular Biology and Genomics. Elsevier (http://www.sciencedirect.com/science/book/9780120885466)
Patrinos, G.P., P.B. Danielson and W.J. Ansorg (2017) Molecular Diagnostics. Third Edition. Elsevier (http://www.sciencedirect.com/science/book/9780128029718)
Tollefsbol, T. (2011) Handbook of Epigenetics. The New Molecular and Medical Genetics. Elsevier (http://www.sciencedirect.com/science/book/9780123757098)


Software

No aplica


Groups and Languages

Please note that this information is provisional until 30 November 2025. You can check it through this link. To consult the language you will need to enter the CODE of the subject.

Name Group Language Semester Turn
(SEM) Seminars 631 English second semester morning-mixed
(SEM) Seminars 632 English second semester morning-mixed
(TE) Theory 63 Catalan/Spanish second semester morning-mixed