Search DIAN Tissue Requests
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withdrawn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withdrawn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withdrawn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
Withdrawn
DIAN-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
na
RIPK1 regulated metabolic biomarkers
02/14/2019
Not approved
DIAN-T1902
Compare the baseline distribution of RIPK1 regulated metabolic biomarkers in CSF samples from DIAN patients vs. cognitively normal non-carrier family member controls
Generate biomarker hypothesis to inform the decision making for a DIAN population in phase2a clinical trial with RIPK1 inhibitors
Steven M. Greenberg
CSF Biomarkers for Dutch-type Hereditary Cerebral Amyloid Angiopathy
02/07/2019
approved
DIAN-T1901
1. Perform multiplex immunoassay measurements of a range of candidate biomarkers in cerebrospinal fluid (CSF) samples from carriers and non-carriers of the Dutch-type hereditary cerebral amyloid angiopathy (D-CAA) mutation enrolled in DIAN.
2. Perform parallel immunoassays on plasma samples drawn at similar timepoints to determine the correlation between CSF and plasma concentrations.
3. Correlate CSF and plasma biomarkers with neuroimaging, biochemical and clinical features in the enrolled mutation carriers.