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Hidden ancestral links found in motor neuron disease and dementia could speed up gene discovery

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Hidden ancestral links found in motor neuron disease and dementia could speed up gene discovery

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Researchers at the Macquarie University Brain Institute and Clinic have helped accelerate the search for disease-causing genes by building new genetic 'families.' The team uncovered hundreds of previously unrecognized family connections by analyzing the DNA of people with frontotemporal dementia (FTD) and motor neuron disease (MND).

The researchers analyzed genetic data from 3,524 people with FTD and MND (also known as amyotrophic lateral sclerosis or ALS) from Australia, New Zealand and the United Kingdom. They then identified relatives ranging from siblings to third cousins using a technique called cryptic relatedness analysis.

Lead author Dr. Lyndal Henden says these relationships can be difficult to recognize in adult-onset diseases like ALS and FTD because not everyone who carries a genetic variant linked to disease develops symptoms, and family histories may be incomplete.

"Family history does not always tell the whole story in MND and FTD," Henden says. "People who appear unrelated can share DNA inherited from a common ancestor, and bringing these people together into genetic families gives us more information to work with when searching for the causes of disease."

The research published in the journal Brain identified 793 related pairs within the cohort and more than 30% previously unrecognized relationships.

These hidden relationships allowed the researchers to build 73 new DNA-based family trees from people who had no known genetic explanation for their disease, giving researchers larger families to help track down new disease-linked variants.


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