C9orf72 Information for those Impacted
The most common genetic cause of both ALS and FTD is the C9orf72 Repeat expansion. This means there are many more people with the C9 expansion as it is known informally then have any other ALS or FTD related variant. There are countless academic publications on this variant and how it impacts people, but little made for those impacted until the founding of End the Legacy.
Our C9orf72 Guide
This well sourced document covers many issues important to people impacted by C9orf72.
Studies C9orf72 Carriers Can Enroll In
A great way to defeat this disease is to participate in research! See studies those impacted by C9orf72 can participate in here.
C9orf72 2024 Research Webinar
We held a talk on research C9 carriers may be interested in participating in.
C9orf72 Penetrance Webinar 2024
A new paper showing personalized penetrance (or risk of disease) estimation for C9orf72 carriers came out in 2024. We hosted this talk with the lead author.
C9orf72 Loss of Function Theory of Disease
We held a talk with noted C9orf72 researcher Dr Janice Robertson in 2024 specifically on the "loss of function" theory of disease.
Dr Rothstein Presentation on C9orf72 Approaches
Packard center researcher Dr Jeffrey Rothstein gave us a talk in 2024 about approaches he is working on that would impact C9orf72.
Excercise and C9orf72
Statistician and community member Daniel Brickman, PhD gave this talk about exercise for people at risk in 2023.
The C9 Expansion in Broad Population Screens
Geneticist Dr Arianna Tucci gave us a talk in 2023 about her work looking at the presence of the C9 expansion in broad population screens.