Solve RD – ultra rare syndromes

We have the possibility to launch a trio genome for a certain number of “unique” patients (the essential condition being that we must be able to access these patients for fresh samples, and have a trio: patient + 2 parents). I wrote to you already about this but had few reactions. Can you identify such trios for January ? We will see how to submit the clinical description of each case to Solve-RD, and how to send our colleagues in Nijmegen the samples in trio. It is important to remember that any patient who is solved may be published, of which you will be co-authors, of course. To allow our entire network to benefit from this approach, 1 family can be proposed by each member (37 “unique” cases) The cases will be validated by the DITF group (a joint working group between Solve-RD and ITHACA)