To give a brief overview (I'm posting from my phone), the team has tested a variety of treatment compounds, identified endoplasmic reticulum (ER) stress in Bertrand's cells, and have mapped-out a path to further understand the mechanisms at play in N-glycanase deficiency and potential avenues for mitigation/treatment.
As you can see above, we all had a fantastic time meeting with Dr. Freeze, and we learned a lot.
As mentioned yesterday, thanks to a doctor at Yale, not one but TWO additional cases of N-glycanase deficiency have been identified! This discovery firmly establishes causality for Bertrand's condition.
This is huge.
It means that Duke got it right --the exome sequencing done by Duke successfully identified a new condition. And, on a more personal level, it gives us safe options with which to expand our family.
We're very excited to see the science moving forward.