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2020/2021

Medical Genomics and Bioinformatics

Code: 44344 ECTS Credits: 6
Degree Type Year Semester
4313802 Advanced Genetics OT 0 1
The proposed teaching and assessment methodology that appear in the guide may be subject to changes as a result of the restrictions to face-to-face class attendance imposed by the health authorities.

Contact

Name:
Jordi Surrallés Calonge
Email:
Jordi.Surralles@uab.cat

Use of Languages

Principal working language:
english (eng)

Teachers

Massimo Bogliolo
Lidia Gonzalez Quereda
Jordi Minguillon Pedreño
Adriana Lasa Laborde
Benjamin Rodriguez Santiago

External teachers

Clara Serra

Prerequisites

A degree in the field of biosciences

Objectives and Contextualisation

Introduction to the applications of genomic medicine to the diagnosis, understanding and treatment of genetic diseases.

Introduction to the bioinformatic analysis of genetic variants, data bases, filtering of variants

Genetic councelling

Genetically based advanced therapies for the treatment of genetic disorders 

Medical genetics and dysmorphology

Competences

  • Demonstrate a mastery of genetic analysis as a transversal tool applicable to any field of genetics.
  • Demonstrate responsibility in management of information and knowledge.
  • Design and apply scientific methodology in resolving problems.
  • Identify and propose scientific solution for problems related to genetic research at both molecular and organism levels and demonstrate an understanding of the complexity of living beings.
  • Possess and understand knowledge that provides a basis or opportunity for originality in the development and/or application of ideas, often in a research context.
  • Student should possess an ability to learn that enables them to continue studying in a manner which is largely self-supervised or independent.
  • Students should know how to apply the knowledge they acquire and be capable of solving problems in new or little-known areas within broader contexts (or multidisciplinary contexts) related to their area of study.
  • Use and manage bibliographical information and other resources related to genetics and related fields.
  • Use scientific terminology to argue the results of the research and show how to communicate in spoken and written English in an international setting.

Learning Outcomes

  1. Apply bibliographical information about rules and legislation in risk assessment.
  2. Demonstrate responsibility in the management of information and knowledge and in the direction of groups and/or projects in multidisciplinary teams.
  3. Display knowledge of genetic analysis applied to the genomics of clinical cases.
  4. Identify and compare the different methodologies of molecular analysis of genetic variability and medical genomics.
  5. Identify suitable bioinformatic methodologies for genomic analysis applied to personalised medicine.
  6. Preparation and presentation of seminars.
  7. Solve practical problems in medical genomics by applying knowledge of bioinformatic analysis of the genoma.
  8. Student should possess an ability to learn that enables them to continue studying in a manner which is largely self-supervised or independent.
  9. Use scientific terminology to argue the results of the research and show how to communicate in spoken and written English in an international setting.
  10. Write a report that considers the use of the methodology used in the module to resolve a specific problem.
  11. Write critical summaries about the taught seminars.

Content

Introduction to the applications of genomic medicine to the diagnosis, understanding and treatment of genetic diseases. Introduction to the bioinformatic analysis of genetic variants, data bases, filtering of variants . Introcution to genetic councelling. Genetically based advanced therapies for the treatment of genetic  diseases. Medical genetics and dysmorphology

Methodology

 
 
theoretical classes
										
											
										
											
										
											Teaching based on problem solving
										
											
										
											
										
											Classes in the bioinformatics classroom

Activities

Title Hours ECTS Learning Outcomes
Type: Directed      
Bioinformatics in informatics classroom 25 1 1, 7, 2, 3, 11, 10, 4, 5, 6, 8, 9
Theoretica teaching 25 1 1, 7, 2, 3, 11, 10, 4, 5, 6, 8, 9
Type: Supervised      
Bioinformatic analysis 50 2 7, 5
Type: Autonomous      
Written report 40 1.6 7, 3, 11, 4

Assessment

Exam of the theorethical teaching, problem solving at the bioinformatica classroom and written report

Assessment Activities

Title Weighting Hours ECTS Learning Outcomes
Bioinformatics problem resolution at the informatics classroom 25% 3 0.12 7, 3, 4, 5
Written report 25% 3 0.12 3, 11, 10, 5, 9
exam 50% 4 0.16 1, 7, 2, 3, 11, 10, 4, 5, 6, 8, 9

Bibliography

to be showns during the teaching sessions