From genetic disease to functional genomics

Vakbeschrijving From genetic disease to functional genomics
Collegejaar: 2018-2019
Studiegidsnummer: 3125FOS09Y
Docent(en):
  • Prof.Dr. D.J.M. Peters
  • Prof.dr. A.M.J.M. v.d. Maagdenberg
  • Dr. W. van Roon-Mom
Voertaal: Engels
Blackboard: Ja
EC: 6
Niveau: 500
Periode: Semester 1
  • Geen Keuzevak
  • Geen Contractonderwijs
  • Geen Exchange
  • Geen Study Abroad
  • Geen Avondonderwijs
  • Geen A-la-Carte en Aanschuifonderwijs
  • Geen Honours Class

Admission requerements

  • Successful completion of 3120321PPY (How To Write A Research Proposal) is strongly recommended.
  • Student is assumed to be familiar with knowledge described in: Human Molecular Genetics (Strachan & Read): Chapters 4, 13, 14, 15, 16, 20, 21.

Description

This four-week course will take you through the successive steps in the identification and characterization of the gene defect(s) in various Mendelian and multifactorial disorders. Both fields are main research lines at the Department of Human Genetics, covering neurological and neuromuscular disorders, colon, breast and skin cancer, cardiovascular and kidney disease, and hemoglobinopathies.
Much emphasis is given to the functional consequences of the mutations in the DNA – RNA, protein and metabolites. Thus, subsequent to gene and mutation identification, the functional consequences need to be studied in various in vitro and in vivo model systems. Our main emphasis lays on iPSCells/organoids as well as transgenic and (conditional) knock-out mouse models, but also other organisms like Drosophila and C. elegans will be discussed.

The ultimate goal of the functional studies is the identification of targets for the development of treatment and prevention strategies. Different therapeutic (genetic) intervention strategies are under investigation and/or being tested in clinical trials.

The flow of the course is as follows:
In the first part of the course, a thorough theoretical overview of the various steps in gene discovery and functional characterization is given. Important issues like: collection and diagnosis of families and populations with a genetic disease, modern (genome-wide) gene identification strategies (Next Generation Sequencing), genome editing (CRIPR/Cas), functional assays, bioinformatics, model systems and therapeutic strategies will be discussed in lectures, demonstrations and self-study assignments.

In the second part of the course, students participate, in couples, in ongoing disease-oriented projects at the Department of Human Genetics to get the flavor of the modern medical genetics and functional genomics work. In addition, students will be informed on how methodology discussed in the first weeks has resulted in state-of-the-art knowledge on various important human diseases.
The experience gained will be used to design research proposals to be presented at the end of the week in a mini-symposium.

This course will particularly work on:

Research competences:
Defining a research question, writing a research proposal, choosing appropriate techniques

Professional competences:
Collaborating with peers, commitment, motivation and drive, digesting other people’s opinions

Course objectives

The student:

  • has an overall understanding of the theoretical and practical features of family studies in (genetic) diseases
  • has an overview and knowledge of strategies to identify genes
  • has an overview and knowledge of functional assays and models for the development of treatment and prevention strategies of genetic diseases
  • can convey this knowledge and views to the other students
  • can implement this knowledge in the design of a written research proposal and an oral presentation about a chosen subject.

Timetable

All course and group schedules are published on our LUMC scheduling website or on the LUMC scheduling app.

Mode of Instruction

  • Lectures
  • Working classes
  • Self-study assignments

Course load

Total course load is the amount of EC’s multiplied with 28 hours.

Assessment method

  • Student behaviour (motivation, independency, oral reporting, participation in discussion)
  • The research proposal
  • The student’s oral presentation of his assignment during a plenary session with all course participants

Blackboard

Blackboard will be used during this course.

Reading list

Will follow.

Registration

Registration for FOS courses, H2W, Scientific Conduct, How to start, Course on Animal Science , and CRiP and Adv concepts courses takes place in lottery rounds in the beginning of July. After the lottery rounds: if you want to register for a course you are kindly asked to contact the student administration at masterbw-courses@lumc.nl.

Contact

masterbms-courses@lumc.nl

Remarks

This course will be given in parallel with the course: ‘Translational Neurogenetics’. A substantial number of lectures will be given for the combined group.

Talen