Emma Center for Personalised Medicine

Question 1

What is a rare disease?

Answer 1

• monogenic (yet interaction)
• low prevalence (1 / 2000), (1 in 1200)
• 8% of humans effected by a rare disease

Question 2

P4-medicine

Answer 2

• predictive
• preventive
• participatory
• personalized
• 5th: palliative

Question 3

the 5th P

Answer 3

palliative

Question 4

What is the scope of translational research?

Answer 4

• from lab research to patient case to clinical application - all the way
• in the wheel one can start anywhere

Question 5

Why is a diagnosis important?

Answer 5

• provide information
  ◦ family want to have more information
  ◦ what does my future look like? Is this progressive?
• otherwise off-label prescription

Question 6

Which diagnostic genetic techniques are available?

Answer 6

• Episign first - tier, WES triage
  ◦ choose a panel that fits the symptoms
  ‣ eg- eye diseases
• “multidisciplinary Diagnostic Day” (for selected cases)
• Gene Discovery Club: for all phenotypes
• Deep phenotyping, -omics, model systems (iPSCs, organisms)
• Disease mechanisms and therapy targets

Question 7

Pre-clinical vs clinal research. What are the differences?

Answer 7

preclinical study …
… is to test a drug or a device, a procedure, or another medical treatment in animals. The aim of a preclinical study is to collect data in support of the safety of the new treatment

Clinical trial …
… refers to studies that are done in people after collecting the data from the preclinical stage

Question 8

What are the opportunities/ solutions to issues in PM?

Answer 8

– incomplete ? –
◦ acting with patients and families as partners
‣ chose their own outcome (patient reported outcome) - what symptoms are most important for them to treat?
◦ how are they doing psychologically throughout life?

Question 9

What are the obstacles in PM?

Answer 9

– incomplete ? –
◦ low numbers
◦ spread out geographically

Question 10

How many genes do we have? How many are known to be disease causing?

Answer 10

• 22 000 genes –> 3% in exons
• 7000 genes - known to cause human disease

Question 11

For whom was the Emma Center established?

Answer 11

For paediatric patients with (suspected) complex genetic conditions

Question 12

Why was the Emma Center established?

Answer 12

Due to fragmented care and translational research

Question 13

What is the goal/ vision of the Emma Centre?

Answer 13

• put the patient front and center
• collaboration with the family
• spin the wheel faster
• multidisciplinary and inter-departmental care
• translational and bidirectional research
  Endproduct: Personaled (holistic) care

Question 14

There wheel

Answer 14

• patient can enter at any point

Question 15

What is the difference between symptomatic disease interventions and disease-modifying interventions?

Answer 15

symptomatic disease interventions:
eases the symptoms without addressing the basic cause of the disease

Disease-modifying intervention:
treatments or interventions that affect the underlying pathophysiology of the disease and have a beneficial outcome on the course