Search DIAN Tissue Requests
Dennis Selkoe
Plasma Levels of an N-terminal Tau Fragment as Predictors of Cognitive Decline and Neurodegeneration in DIAN
12/10/2019
approved
DIAN-T1915
Using cross-sectional and longitudinal plasma samples from DIAN, we will assess levels of plasma NT1 (SIMOA) and correlate these with estimated years to symptom onset (EYO), rates of neurodegeneration (MRI-based), and cognitive performance (using the DIAN global cognitive composite).
Using pre-existing measures of NfL from prior DIAN studies, we will compare and contrast the associations of plasma NfL and NT1 to cognitive and neurodegenerative trajectories.
N/A
Therapeutic development for familial Alzheimer’s disease
09/29/2019
To determine whether therapeutic candidates can affect Abeta processing in cultured fibroblasts from autosomal dominant Alzheimer disease (ADAD) patients with PSEN1 mutations
Oscar Harari
Brain DNA methylation in Autosomal Dominant Alzheimer’s disease
10/29/2019
approved
DIAN-T1914
Aim 1: To identify Differentially Methylated Loci (DML) in ADAD and sporadic AD and neuropath-free controls
Aim 2. To identify genetic loci modulating DML, and their downstream impact in brain transcriptomic/proteomic profiles.
Aim 3. To evaluate the causal relationship between DML and AD pathogenesis.
Randall Bateman
Fluid NfL levels to be used as control and run-in data for the DIAN TU
10/18/2019
withdrawn
DIAN-T1913
To measure NfL levels in CSF and matched plasma smaples for use as control and run-in data in the DIAN TU
Carlos Cruchaga
Genomic-based biomarkers for Alzheimer’s Disease
10/17/2019
withdrawn
DIAN-T1912
Aim 1: To construct prediction models for AD using cell-free nucleic species.
Aim 2: To create novel prediction models using circular RNAs as biomarkers
N/A
Gene therapy for familial Alzheimer’s disease
09/29/2019
approved
DIAN-T1910
To determine whether introduction of wildtype PS1 can rescue γ-secretase activity in cultured fibroblasts from autosomal dominant Alzheimer disease (ADAD) patients with PSEN1 mutations
Kaj Blennow
Truncated tau species tau224 and tau368 in CSF and P-tau181 in plasma in familial AD as indicators of pathological brain tau metabolism
08/14/2019
withdrawn
DIAN-T1908
To examine how novel CSF biomarkers for tau pathology (tau truncated at positions 224 or 368) change with onset of amyloid pathology and tau pathology, as well as clinical disease onset and progression in familial AD
To examine how plasma P-tau181 changes with onset of amyloid pathology and tau pathology, as well as clinical disease onset and progression in familial AD
Catherine Marquer
SYNAPTOJANIN 1 LEVELS IN DOMINANTLY INHERITED ALZHEIMER’S DISEASE
07/05/2019
approved
DIAN-T1907
To test whether the protein levels of Synaptojanin1 are increased in dominantly inherited Alzheimer's disease (DIAD), as they are in sporadic and Down Syndrome-AD
Djamel Lebeche
Pharmacological Validation of SERCA Activators for Diabetes Associated ADRD
05/12/2019
approved
DIAN-T1906
To test SERCA activators in in vitro assays to assess their ability to rescue neuronal cells from ER stress-induced cell death (neuroprotection)
To test the effects of SERCA activators in animal model of diabetes and Alzheimer's disease (APP/PS1-Ob/ob mice), and in iPSC derived from AD patients
Houlden and Kullmann/Houlden
Dominant and Recessive Intronic Repeat Expansions in Neurodegeneration
02/25/2019
Pending
T1903
Screen for the GGC repeat expansion in the NOTCH2NLC gene recently associated with dominant or sporadic neurodegeneration from our and Japanese labs.
Screen the AAGGG recessive expansion seen in the RF gene associated with ataxia, MSA-like phenotype and neurodegeneration.
We will haplotype patients with expansions to understand relationships between samples, SNPs associated with the disease and possible founder effects.
Feedback results to be paired with biobank samples