Subsequent to being diagnosed with an IRD, the patient is told to take heart because medical science will soon come to the rescue. This assurance has been dispensed to patients for at least the last 20 years but the truth is that progress is slow and more so for orphan diseases. PRPH2 occurs at the rate of 1 in 80,000 people.
Clearly, enormous efforts within the research community are underway. The question (or should I say challenge) is whether the research will yield tangible remedies any time soon. Research directions are influenced by many factors. It seems the community affected by genetic defects may want some input into the direction research takes.
It is with this notion that we started the PRPH2 Interest Community. The goal is to understand the size and extent of the affected community. Then armed with that information, decide if there is a direction to be pursued and then decide how we should proceed.
It is telling that currently, there are no clinical trials specifically aimed at the PRPH2 gene. The goal of this community as of this writing, is to raise the awareness of PRPH2 and to lobby for research into remedies for PRPH2 caused disease.
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