CDG World Conference: CDG Basics

This year the World CDG (Congenital Disorders of Glycosylation) Conference was hosted entirely virtually, which enabled me to attend and even participate as a panelist for a session. This event typically rotates between San Diego and somewhere in Europe, every other year. That travel component and cost has been the primary reason I haven't attend in prior years. After my experience this year, I might need to invest in plane tickets in the future. 

The conference was 4 days, which is mighty long for a virtual conference with back-to-back 6- to 8-hour zoom meetings. However, it was well worth the screen time. There were a variety of sessions, some more valuable to me than others.

One of the most useful to me was essentially CDGs 101, an introduction and overview to the variety of CDGs. Here's a few of the most interesting things I learned or relearned:

1. The first CDG was discovered in 1980 by Professor Jaak Jaeken. In fact, World CDG Day is celebrated on May 16 in honor of Professor Jaeken's birthday. Although he turned 80 this year, he is still one of the most active and prominent advocates for CDGs. 
2. The first CDG discovered was PMM2, which is also the most common CDG, not surprisingly. In 2009, there were approximately 40 known types of CDG. Now in 2021, there are 161 known types with more added each year. Teddy's PIGN-CDG was first discovered and documented in research in 2011.
3. All CDGs are metabolic disorders that affect how glycans (sugar-building blocks) attach within the cellular level. There are different pathways that are affected by different CDGs. The conference shared that currently there are known to be 3 types that are lipid linked, 27 GPI-anchor, 34 that are N linked, 46 that O-linked and 56 that are multiple pathways. I wish I could you specifically which type PIGN-CDG is with certainty, but honestly I'm not certain. I am confident it's GPI-anchor, but it may actually be multi-system with one of those being GPI. If you figure this out, let me know.
4. CDG affecting the same gene can result in multiple diseases or presentations of disease. To some extend, that's why we see such dramatic differences in the functioning level of our PIGN children.

I will work to share additional thoughts on the conference in the future, but I don't care to bore you with all the fascinating things all at once. 

Professor Jaeken still advocates for the CDG community at the spry age of 80.