Teaching plan for the course unit

 

 

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General information

 

Course unit name: Genetic Diagnosis

Course unit code: 568779

Academic year: 2021-2022

Coordinator: Bru Cormand Rifa

Department: Department of Genetics, Microbiology and Statistics

Credits: 5

Single program: S

 

 

Estimated learning time

Total number of hours 125

 

Face-to-face and/or online activities

31

 

-  Lecture

Face-to-face

 

12

 

-  Lecture with practical component

Face-to-face

 

7

 

-  Problem-solving class

Face-to-face

 

2

 

-  Seminar

Face-to-face

 

10

Supervised project

10

Independent learning

84

 

 

Competences to be gained during study

 

BASIC COMPETENCES

  • To acquire knowledge that will provide a base or an opportunity to be original in the development or application of ideas, often in a research context.  
  • Capacity of applying the acquired knowledge and to solve problems in new or poorly known environments within broader contexts related to the study subject.
  • Capacity to integrate knowledge and face the complexity to emit judgment based on information that, despite being incomplete or limited, will include a reflection about the social ant ethical responsibilities linked to the application of this knowledge or judgement.
  • Ability to communicate conclusions, knowledge and reasoning behind them, to a specialized or unspecialized audience, in a clear an unambiguous manner.  
  • To acquire learning abilities that will allow them to continue studying in an autonomous and self-directed manner.


 

GENERAL COMPETENCES
  • To develop the ability of logical, critical and creative thinking, and analytical and synthetic abilities.
  • To develop the ability of interaction and knowledge transfer in their environment.
  • Ability of teamworking and collaborating with other researchers.  
  • In a more academic area, the master has the objective of providing the student with a habit and ability of critical reading and interpretation of scientific publications related to their study subject and to be able to design, write and defend a research project.


 

SPECIFIC COMPETENCES
  • To know how to gain access to different databases that integrate public information on the human genome; and how to retrieve information from them.
  • To be able to read specialized and state-of-the-art literature on any aspect of the human genome, to summarize it, and to provide critical views.
  • To be able to digest and interpret genomic data that result from the analysis of gene expression and high-throughput sequencing/genotyping of genomes. To become familiar with databases and bioinformatic tools that allow browsing genome annotations.
  • To know the different types of disease-causing mutations.
  • To know a wide range of diagnostic technologies and methodologies that are suitable for every specific type of mutation.
  • To know the advantages and limitations of every technique.
  • To know the current frontiers of genetic diagnosis: Mendelian diseases, complex diseases

 

 

 

 

Learning objectives

 

Referring to knowledge

Genetic diagnosis is a reality in the services of hospitals in the public health system, as well as in private laboratories.
Students in the master’s degree in Genetics and Genomics who wish to specialize in human genetics must be familiar with the basic characteristics and complexity of genetic diagnosis, ethical implications, technological details, different applications and modalities, and future projection.

 

GENERAL OBJECTIVES

The main objective of this subject is twofold: on the one hand, to know the different types of human mutations, both at structural and functional levels and, on the other hand, to master the fundamentals of the various techniques and analytical strategies that are currently available for diagnosis, the limitations and advantages of those, and their applicability, either separately or in combination. The student will become familiar with the different types of diagnoses and will become aware of the associated ethical aspects. He will also learn about the current state of diagnosis of the most prevalent genetic diseases and the future prospects of this field, driven by recent advances in high-throughput sequencing technologies and personalized medicine.

 

 

Teaching blocks

 

1. WEEK 1: LEVELING

*  Monogenic diseases. Pedigrees and types of inheritance patterns. Linkage. Mosaicism, penetrance and expressivity, imprinting, anticipation, and other complications to mendelian patterns. Complex diseases. Risk assessment in pedigrees. ROC curves.

2. WEEK 2: RARE DISORDERS. NEXT GENERATION SEQUENCING (NGS)

*  

  • Theoretical session: "Next-Generation sequencing in Diagnostics. Population Screening"
  • Invited speaker 1: Benjamin Rodríguez. "NGS setting for diagnosis at Hospital de Sant Pau, Barcelona"
  • Problem-Based Learning 1

3. WEEK 3: STRUCTURAL VARIATION (CYTOGENETICS, CNVs)

*  

  • Invited speaker 2: Raül Santamaria. "The molecular diagnostics laboratory: The example of Echevarne"
  • Invited speaker 3: Blanca Espinet. "Cytogenetics in the 21st century: Methodologies and applications at Hospital del Mar, Barcelona"
  • Problem-Based Learning 2

4. WEEK 4: COMPLEX DISORDERS. GWAS AND COMMON VARIATION.

*  

  • Theoretical session: "Genetic diagnosis in complex disorders: State of the art"
  • Invited speaker 4: Miquel Tusón. "Psychiatric pharmacogenetics: Selecting the right drug for the right patient"

5. WEEK 5: QUANTITATIVE GENETICS

*  

  • Theoretical session: "Direct-to-Consumer genetics (DTC)"
  • Theoretical session: "Phenotype inference from genetic data"
  • Problem-Based Learning 3

6. WEEK 6: PREIMPLANTATION DIAGNOSIS. PRECISION MEDICINE.

*  

  • Theoretical session: "Precision Medicine"
  • Invited speaker 5: Carles Giménez. "Reprogenetics: Preimplantation genetic diagnosis"
  • Wrap-up session

 

 

Teaching methods and general organization

 

FACE-TO FACE LEARNING ACTIVITIES: Face-to-face teaching consists of theoretical sessions, problem-based learning (PBL) and problem solving. Lectures by guest lecturers with professional expertise in the subject will be given in the form of seminars.


INDEPENDENT LEARNING ACTIVITIES: This work consists of reading and expanding the recommended bibliography to assimilate the different concepts taught in the theoretical sessions. The student must also solve, individually, a series of problems on disease risk assessment in pedigrees. In addition, students will work in small groups to develop topics related to specific case studies (problem-based learning, PBL).

TUTORIALS: Students can discuss with the teachers about doubts or problems related to the course both by email or through the forum of the virtual campus. Face-to-face meetings can also be used.

 

 

Official assessment of learning outcomes

 

 

• 30% Problem-Based Learning (PBL)

The students will work in small groups to prepare a digest on a topic based on a specific study case. This work will be presented and discussed with the rest of the students.


• 20% Multiple choice questions on the conferences given by the invited speakers

 

 • 50% Exam

It will include problem solving and questions related to the topics discussed in the theoretical sessions.