C9orf72 Information and Resources
A pathogenic C9orf72 repeat expansion is one of the most common known genetic causes of ALS and frontotemporal degeneration (FTD). People with the expansion have an increased, age-dependent risk of developing ALS, FTD, or both, but not everyone develops either disease. Current evidence cannot predict with certainty whether or when a particular person will develop symptoms.
This page brings together educational materials, research opportunities, and expert presentations for people and families affected by C9orf72-associated risk.
C9orf72 Information Guide
An accessible overview of C9orf72 genetics, risk, research, and considerations for individuals and families.
C9orf72 Research Studies
Explore studies that may be available to people and families affected by C9orf72. Eligibility and recruitment status should be confirmed directly with each study.
C9orf72 Webinars
C9orf72 Loss-of-Function Research
(2024)
Dr. Janice Robertson discusses the loss-of-function hypothesis—one area of ongoing research into C9orf72 biology and potential therapeutic approaches.
C9orf72 Loss-of-Function Research
(2024)
Dr. Janice Robertson discusses the loss-of-function hypothesis - one area of ongoing research into C9orf72 biology and potential therapeutic approaches.
Exercise and C9orf72
(2023)
Daniel Brickman, PhD, discusses evidence concerning exercise and ALS risk in people from C9orf72 families.
Understanding C9orf72 Penetrance (2024)
A discussion of research using age and family history to estimate C9orf72-associated disease risk. These estimates describe uncertainty across groups and cannot predict an individual future with certainty.
C9orf72 Therapeutic Research
(2024)
Dr. Jeffrey Rothstein discusses approaches to understanding and potentially treating C9orf72-associated ALS and FTD that were being investigated at the time of this presentation.
The C9 Expansion in Broad Population Screens
(2023)
Geneticist Dr Arianna Tucci talked about her work looking at the presence of the C9 expansion in broad population screens.