My daughter made the New England Journal of Medicine

[eljetfan]

I’ve shared some of the health struggles we’ve had with my daughter. In finding a diagnosis, we actually discovered a whole new type of genetic disease. That’s how we made it to the NEJM. I am actually a co-author on the paper for helping pull all the scientists together.

The Broad Institute did a nice write up on our journey.

https://www.broadinstitute.org/news...dad-brought-together-squad-genetic-detectives

https://www.nejm.org/doi/full/10.1056/NEJMoa2400718

 

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