CCM Genetics and You with Connie Lee, CEO of Angioma Alliance. This is a webinar from the Angioma Alliance programme, placed here by kind permission of Connie Lee.
This is an important, fascinating and original webinar, especially for those with familial (genetic) cavernoma.
After an introduction to the basics of cavernoma genetics and the differences between sporadic and familial cavernoma, Connie deals in detail with the three cavernoma genes (CCM1, CCM2 and CCM3). Look at the video at 47 minutes 40 seconds for a poignant personal slide that brings home how a subtle mutation can cause major symptoms. This provides essential background to a detailed discussion about genetic testing and how to interpret the nature of the reports that those who are tested receive. Connie also discussed ‘founder mutations’ in which the origin of a mutation found in many families can be traced back to its origin from a single couple.
The subsequent Q&A is also recorded, and Connie discusses many topics including some of the considerations to take into account before you decide to have genetic testing.
The Basics cover broadly the same information as in David White’s webinar “An Introduction to Cavernoma Genetics”, but at a more advanced level.
About the Author.
Connie Lee founded Angioma Alliance in the early part of this century after her daughter was born with CCM3. She has led AA with the joint focus of finding a cure for cavernoma and providing support for those with the condition.
It is largely through her efforts that the scientific community in the US has followed up the fascination and importance of understanding the basic science of cavernoma as a step to finding that cure.