3 ms·

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/pm

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/ 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.

daegloe 4y ago
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.
acomjean 4y ago
There also is the Undiagnosed Disease Network which is NIH funded. https://undiagnosed.hms.harvard.edu/about-us/ 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 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.
- yosito 4y ago
  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?
  - acomjean 4y ago
    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. “
    - dmix 4y ago
      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 https://en.wikipedia.org/wiki/Fibromyalgia
      - dsjoerg 4y ago
        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.
yosito 4y ago
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?
- atdrummond 4y ago
  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.
avgcorrection 4y ago
> and former Obama-admin CTO for the US. Is this part supposed to make me trust him?
dna_polymerase 4y ago
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 https://www.youtube.com/watch?v=Rt3XyeFHvt4

daegloe 4y ago

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.

acomjean 4y ago

There also is the Undiagnosed Disease Network which is NIH funded. https://undiagnosed.hms.harvard.edu/about-us/ 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 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.

yosito 4y ago
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?
- acomjean 4y ago
  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. “
  - dmix 4y ago
    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 https://en.wikipedia.org/wiki/Fibromyalgia
    - dsjoerg 4y ago
      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.

yosito 4y ago

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?

atdrummond 4y ago
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.

avgcorrection 4y ago

> and former Obama-admin CTO for the US. Is this part supposed to make me trust him?

dna_polymerase 4y ago

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 https://www.youtube.com/watch?v=Rt3XyeFHvt4