Jean´s paper

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?

 

 

 

 

 

 

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