How a rare genetic mutation could unlock new ways to treat or prevent dementia
Summary
Robert Kolker discusses his book *The Vanishing Family*, chronicling a Pennsylvania family affected by a rare genetic mutation causing frontotemporal dementia. The story highlights the disease's impact on personality and the family’s struggle with misdiagnosis and the burden of genetic testing. Kolker explains how studying this specific tau-related condition offers a potential pathway to developing treatments for broader dementias like Alzheimer’s.
Topics discussed
Introduction: Dementia statistics and the promise of genetic research
Overview of Alzheimer's and Frontotemporal Dementia (FTD)
Introducing 'The Vanishing Family' and author Robert Kolker
The story of Jean: Early signs and misdiagnosis in the 1980s
Understanding FTD: Symptoms, personality changes, and frontal lobes
The impact on the family and the long road to diagnosis
The genetic mutation V337M and the burden of predictive testing
Family members' differing choices regarding genetic testing
Historical context: The reclassification of dementia as Alzheimer's
The three tragedies of knowing: Self, children, and grandchildren
Identity and consciousness: What makes us who we are?
The mind-brain connection and the history of neuroscience
Anosognosia: The cruel irony of unawareness in FTD patients
The science of Tau vs. Amyloid in dementia research
Why rare disease families are crucial for testing new treatments
Economic incentives and the neglect of rare diseases in pharma
Potential treatments: CRISPR, gene editing, and the blood-brain barrier
Outlook on future cures and the role of the Vanishing Family
The family's resilience, sacrifice, and recommitment to each other
Closing remarks and show credits
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