The Undiagnosed Diseases Network (a US organisation)

I don't recall anyone ever mentioning this, and thought I'd draw it to people's attention. You never know, it might be helpful to somebody, someday :

https://commonfund.nih.gov/diseases

I got the link from this article :

Title : When the Illness Is a Mystery, Patients Turn to These Detectives

Link : https://www.nytimes.com/2019/01/07/health/patients-medical-mysteries.html

 

Really interesting.

It shows that diseases that are well defined and known in childhood (rare/genetic) can under specific conditions -- not show up until later in life. An atypical expression that would not usually be acknowledged as the disease.

If enough of these people were screened then they could start to refine how Dr's might proceed when presented with patients with a range of mystery symptoms and avoid at least some of the useless testing that invariably comes back as normal. The problem remaining that I expect some of the testing done is not at all routine and very specialised so the system would have to catch up with that.

 

The Undiagnosed Disease Network has a call for gene function study proposals. Outside organizations can apply. Deadline is Feb. 28, 2019.

"The total amount of funds available for this award is approximately $900,000 for FY19 contingent upon receiving scientifically meritorious applications. Budgets should not exceed $150,000 total costs and must reflect the actual needs of the proposed project."

https://undiagnosed.hms.harvard.edu/research/funding-opportunities/

 

https://twitter.com/user/status/1082760098911539206