Solve RD – unsolvables

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.