Paris June 112013-06-11
CURRENT HOT TOPICS FROM THE EURO-HSP PATIENTS BoD TO THE HSP SCIENTISTS & NEUROLOGISTS
1) Molecular diagnosis for families with unknown culprit gene using NGS techniques done by genetic groups belonging to SPATAX network
a) Performing the exam itself
Does each national genetic referent center make the job?
Is there a common European project going between you all geneticists or not? A governance structure?
- What are the requirements for such a NGS program: 1,2,3 affected people per one family?
- How long does this exam take for a family? 1,2, 6 months?
- What is the price of this genetic exam?
- Is the specific genetic platform of each country helped by government or charity organisations?
b) Possibilities for individuals to ask assisted procreation from the exam result: sorting very early in vitro embryos
- situation in Spain, Italy, France, Denmark, Norway, Netherlands, Germany ?
2) Establishment of European common registry of HSP patients
- How is the MJ Sobrido project going on?
- Which means are required to reach this goal?