I suspect this is where a new way of doing things, which is already happening in oncology and other areas, called precision medicine could come into play.
So rather than defining disease by its phenotypic/syndromic features, it is defined by its molecular features. What this would mean, is that instead of having to do a separate trial for each of 100+ syndromes, you just do one trial incorporating any patient who has a genetic alteration resulting in IGF-1 and pERK dysregulation for example, or whatever the molecular target of 2591 is deemed to be.
Now this is all more easily said than done and is a nascent field, but it is already happening and with the exponential advances in the field of genomics I think provides a way forward for phenotypically heterogeneous disease.
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