4 ms·

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/

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?

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.