Solve-RD partnership

Solve-RD – ultrarare

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)

RD Solve – insolvables

ITHACA and Solve-RD have identified 5 recurrent conditions that have not been resolved: Aicardi, Pai, Hallerman-Streiff, Gomez-Lopez-Hernandez, and OAFN (oculo-auriculo-fronto-nasal) syndrome. For each syndrome, a small number of trios can be analyzed using a “multi-omics” approach. We need to identify a small number of trios for a first-line multi-omics approach (including the possibility of obtaining a fibroblast culture), and for each syndrome a replication cohort, which can be investigated if we identify a causal genetic anomaly. As for the ultra-rares syndromes above, the observations will be validated at the DITF level.

We’ll come back to the practicalities of submission at the Düsseldorf meeting, but I would already encourage to go back to your files to identify the good patients to submit. Ideally, we should have renumbered the number of available cases for November 22.

1- Patient information Radboud Biobank Rare Diseases (Youths, 12-15 years)

2- Patient information Radboud Biobank Rare Diseases (Children / Legally incompetent)  

3 – Patient information Radboud Biobank Rare Diseases (Adult) 

Minutes DITF Ithaca Break Out Session Annual Meeting 2020 Barcelona

DITF present in Barcelona:

Lisenka Vissers (chair; RUMC),

Elke de Boer (minutes; RUMC),

Elisa Benetti (Siena),

Anne Sophie Denomme-Pichon (CHU Dijon),

Antonio Vitobello (CHU Dijon),

Alain Verloes (INSERM),

Olaf Riess (EKUT),

Marco Tartaglia (IRCCS),

Estrella Lopez Martin (UDP Spain),

Vincenzo Nigro (Telethon UDP)

Minutes DITF Ithaca Break Out Session Annual Meeting 2020 Barcelona