Course From Gene to Function - Molecular Analysis of Disease Genes

The course C104/23 From Gene to Function - Molecular Analysis of Disease Genes is being offered by the Graduate School of Health, Aarhus University, fall 2024.

Criteria for participation: University degree in medicine, dentistry, nursing, or master’s degree in other fields and/or postgraduate research fellows (PhD students and research-year medical students).

Aim: Getting familiar with the theoretical background, the experimental methods, and interpretation of results in studies investigating consequences of mutations and molecular disease mechanism.

Learning outcomes: 

• Protein folding, trafficking, and biogenesis and their disturbances in diseases
• Methods for experimental investigations of effects of gene variations
• Design and interpretation of cellular and in vitro experiments
• Design and interpretation of energy metabolism assays (Seahorse)

Workload: The full workload of the course is expected to be 38 hours

Content: The course consists of a theoretical part (approx. 60 %) including lectures and group work, and 'hands-on' experimental exercises (approx. 40 %). In the theoretical part we introduce to knowledge on gene expression and protein biogenesis (trafficking, folding and biogenesis), design and evaluation of expression experiments aimed to investigate the effects of disease-associated gene variations. In the practical part one experiment analyzes the biogenesis of mutant proteins and the other the effects of gene mutations on cellular energy metabolism using the Seahorse metabolic analyzer. The genetic disease examples for the analyses are taken from the lab’s focus on genetic deficiencies in mitochondrial functions.

Recommended knowledge for participation (if any): Basic knowledge of Genetics, Molecular Biology, Cellular metabolism, and interest in molecular disease mechanisms.

Instructors: 

Venue: Aarhus University (day 1 and 4) + Science Center Skejby (day 2 and 3)

Participation in the course is without cost for:

• PhD students, Health Research Year students from Aarhus University
• PhD students enrolled at partner universities of the Nordoc collaboration
• PhD students from other institutions in the open market agreement for PhD courses

Course dates:

• 07 October 2024 08:30 - 16:30
• 08 October 2024 08:30 - 16:30
• 09 October 2024 08:30 - 16:30
• 10 October 2024 08:30 - 16:30