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Wow, I remember this story. I asked a question about your sons development if the therapy went well and you responded, and I find myself pondering what the outcome is every now and then. Just wanted to say all the best and keep us updated.



Thanks for the kind words and your original comments!

I'll certainly post another update when we reach the next critical milestone in this disorder.

We're making rapid progress in understanding these kids at a cellular level.

I'm very hopeful.

I'm also hopeful that the (apparently advantageous) immunological aspects of NGLY1 deficiency will have broader benefit to mankind.


That must be an incredible feeling, knowing you and your family may play a part in a potentially world-changing discovery.

I hope things continue to improve for you and everyone involved in this endeavour, and I look forward to more updates.


I'm glad someone else is being helped by DNA sequencing. It's such a promising new field, and why I do it


Thank you!




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