This week on The Genetics Podcast, Patrick is joined by Dr. Suzanne Schindler, Associate Professor of Neurology at Washington University in St. Louis. They discuss how blood-based biomarkers like p-tau217 are transforming our ability to detect and stage Alzheimer’s disease, how “clock models” can estimate when symptoms may begin, and how combining biomarkers with clinical phenotyping could improve trial design, prognosis, and patient care.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Suzanne
01:35 Neurobiology of Alzheimer’s disease and how it differs from dementia
06:22 Presymptomatic changes to phosphorylated tau (p-tau) in the brain
07:36 The role of the APOE gene in Alzheimer’s
09:07 Differences in neuropathology in women vs men with Alzheimer’s
10:19 Rare cases where amyloid and tau pathology do not align in Alzheimer’s
12:37 Using plasma p-tau217 trajectories to estimate when Alzheimer’s symptoms may begin
17:30 Using p-tau217 to select clinical trial participants and predict progression timelines
20:59 Overview of therapeutic strategies in Alzheimer’s disease
24:24 Why APOE effects may not appear in p-tau217 measurements
26:30 Combining biomarkers and clinical phenotyping to understand disease progression in Alzheimer’s
30:08 Early-onset vs late-onset Alzheimer’s and differences in clinical presentation
31:45 Expanding beyond p-tau217 to proteomics and multimodal biomarkers for predicting symptoms
33:52 MTBR-tau243 as a more specific marker of tau pathology and Alzheimer’s symptoms
37:31 Expanding biomarkers beyond Alzheimer’s and bringing blood tests into clinical practice
38:49 Closing remarks
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