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Comment by atdrummond | Hacker News Reader

If you or someone you love has a disorder you believe is unexplained, reach out to Alabama-Birmingham’s Precision Medicine arm. (https://www.uab.edu/medicine/pmi/)

It was founded and is run by Matt Might, a computer scientist and former Obama-admin CTO for the US. He wanted to solve his own son’s medical issues and now is helping others. A family member works there as a pathologist and while treatments are expensive, they’re also bespoke. And sometimes it’s better to have answers, and a sliver of hope, than nothing at all.

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There also is the Undiagnosed Disease Network which is NIH funded.

https://undiagnosed.hms.harvard.edu/about-us/

I heard a talk from Hugo Bellen which was interesting about this research. And using model organisms to in a sense verify that they're going in the right direction. https://flypush.research.bcm.edu/lab/about-mosc-udn.htm I haven't had personal experience, but what I remember from the talk it was clear some mutations where causing over expression which was hard to figure out in the patient.

Is this for people who have symptoms but have not received a clear diagnosis from anyone? Or for people who already have a clear diagnosis of a rare condition?

my understanding is it’s for people with symptoms but no known diagnosis. Often because the condition is so rare it’s unknown.

“At the Clinical Sites, doctors and healthcare providers, like neurologists, immunologists, nephrologists, endocrinologists, and geneticists, come together to help find the cause of participant symptoms. “

Not to discredit the value in caring about this stuff, but wouldn't this sort of thing be flooded with people with Fibromyalgia and chronic fatigue syndrome? Wikipedia says Fibromyalgia affects 2-4% of the (US?) population [1], which is a ton of people if you translate that into population numbers.

These are two very popular 'conditions' that have vague symptoms and vague connection to specific physical signals. I'm sure a small subset are masking real treatable disease (as opposed to simply recommending exercise and yoga or environmental changes as Wikipedia said is the normal response). But it might be difficult to filter these out and any bespoke broad sort of catchall would seem inclined to attract these sorts of cases.

[1] https://en.wikipedia.org/wiki/Fibromyalgia

Your statement conflates real and treatable. Unfortunately there are conditions which are real but not yet treatable. Science in 2023 hasn't solved all things.

I expect that a significant subset of Fibromyalgia/CFS sufferers fall into this category. I wonder if this center can make any progress on resolving any of their conditions.

For many fibromyalgia sufferers, the symptoms and physical signals are not "vague" but quite concrete.

I can second this recommendation. Matt’s team at UAB helped collect and analyze the latest research and suggest clinical treatments for my son’s rare genetic variant. It’s free and they were great to work with.

For those interested in Matt Might's work I'd recommend this talk he gave at Jane Street: https://www.youtube.com/watch?v=Rt3XyeFHvt4

Is this for people who have symptoms but have not received a clear diagnosis from anyone? Or for people who already have a clear diagnosis of a rare condition?

You do not need a diagnosis. Having one obviously accelerates the process but there are plenty of people who come either with no reasonable explanation for their condition or even, in some cases, a profoundly incorrect diagnosis.

> and former Obama-admin CTO for the US.

Is this part supposed to make me trust him?

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