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I've been in your shoes, but for my son, who ended up being the first case ever discovered of his particular genetic disorder.

I'm happy to help.

I written down an Algorithm for Precision Medicine that abstracted the journey all the way from diagnosis to treatment:

https://bertrand.might.net/articles/algorithm-for-precision-...

My day job is now to help patients like your partner all day every day at the Precision Medicine Institute at UAB.

Feel free to reach out to us, and we'll be happy to craft research strategy and provide technical tips.



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