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Researchers used genetic analysis to uncover hundreds of previously unknown family connections among patients with ALS and frontotemporal dementia (FTD). By identifying shared DNA from common ancestors, they built 73 new genetic family trees — helping scientists zero in on new disease-causing genes. The findings also challenge the traditional split between "familial" and "sporadic" disease classifications.
Scientists at Macquarie University's Brain Institute have taken a creative approach to gene hunting: instead of relying on patient-reported family histories, they let the DNA do the talking. By applying a technique called cryptic relatedness analysis to genetic data from over 3,500 people with ALS (also known as motor neuron disease) and frontotemporal dementia (FTD), the team uncovered a web of hidden family connections spanning Australia, New Zealand, and the UK.
These newly discovered links allowed researchers to construct 73 genetic family trees from patients who had no previously known genetic explanation for their disease. They also identified "founder" networks — clusters of people who carry the same disease-linked gene variant (like SOD1 or C9orf72) because they all inherited it from a distant common ancestor, even if they appeared completely unrelated on paper.
By the Numbers:
Why it matters: This research reshapes how we think about inherited vs. spontaneous neurodegeneration. By revealing hidden genetic family structures, scientists can now work with larger, more informative datasets — accelerating the hunt for new disease genes and helping explain why the same genetic background can lead to very different outcomes.
