August 29, 2012

Dr. Freeze & Lab Meeting

We visited the Freeze lab at Sanford-Burnham today. We were amazed at the progress Dr. Freeze, Dr. Ping He, and the rest of the team have made in 2 months.

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.


  1. Wow! This is really really exciting! (which makes me want to go for medical Phd. as well:) Hope Bertrand can benefit from the discoveries!

  2. <3 Tears of happy. Love you guys

  3. Sooo very amazing. The whole story, I mean. How you pushed and pushed to figure things out and made it happen. And now you are changing other lives, too.

  4. just amazing, and how nice to have tripled your community overnight!