Emma Center for Personalized Medicine

Question 1

What is a rare disease?

Answer 1

A health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.

Question 2

• How many genes do we have?
• How many are known to cause human diseases?

Answer 2

• Between 20.000 and 25.000 genes
• There are over 10.000 human (monogenic) disorders caused by a muation in a single gene.

Question 3

What is P4-medicine?

Answer 3

Medicine that is predictive, preventive, personalized and participatory.

Question 4

What is the scope of translational research?

Answer 4

It encompasses everything between non-clinical and developmental research and aims to establish the results obtainted in basic research in the academe as new medical technology/medicine that can be used clinically.

Question 5

Why is a diagnosis important?

Answer 5

So that a treatment can be started. Without a diagnosis, this can not be done.

Question 6

Which diagnostic genetic technologies are available?

Answer 6

• Sequencing techniques (whole exome or genome sequencing) → -omics
• Model systems (iPSCs, organisms)

Question 7

What is the difference between pre-clinical and clinical research?

Answer 7

• Pre-clinical → answering basic questions about a drug’s safety with the use of animal studies.
• Clinical → evaluating the effect of a certain treatment or drug on health-related biomedical or behavioural outcomes.

Question 8

Which types of therapy are available?

Answer 8

• Symptomatic therapies → treat the symptoms of the disease but do not adress the underlying cause.
• Disease-modifying → target the underlying cause of the disease.