Estimating disease risk in families carrying changes in C9orf72 gene
Original source
Estimating disease risk in families carrying changes in C9orf72 gene (opens in a new tab)Related topics
An Oxford research presentation estimated that people carrying a C9orf72 repeat expansion had a 64% chance of developing a neurodegenerative disease by age 80. The estimate came from family-history data covering 52 families, but risk varied from 27% to 100% between families. Most diagnosed participants had amyotrophic lateral sclerosis (ALS), rather than another neurodegenerative disease.
Why this matters
The findings suggest that family history could eventually help provide more personalised risk estimates for people carrying a C9orf72 expansion. This does not change treatment or provide an individual prediction yet; further research is needed to improve and validate the estimates.
Limitations and context
The source is an organisational research blog reporting on a presentation, not a peer-reviewed research paper. The analysis included 758 of 1,110 people from 52 families, and the reported estimates varied substantially between families. The source does not provide enough methodological detail to assess the analysis fully.