Search DIAN Tissue Requests
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withdrawn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withdrawn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withdrawn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Withdrawn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.
Suman Jayadev
Immune Cell Pathways in ADAD
12/10/2018
No Request Made
NA
To identify innate immune cell phenotypes and gene regulatory networks in familial AD. Innate immune genes and loci harboring immune genes have been associated with sporadic AD though less is known about cell type specific immune gene networks in familial AD. Evidence from studies including those from DIAN investigators have demonstrated early changes in microglial proteins, in mutation carriers prior to clinical onset of disease. This suggests that microglial or innate immune cell activity, be it loss of homeostatic function, activation of inflammatory or tissue repair responses, disease associated responses or other yet to be defined phenotypes may contribute to FAD progression and serve as a potential therapeutic target in combination with other therapies. While modulating immune pathways in FAD may be a viable intervention, a clearer understanding of the disease relevant drivers of neural and peripheral immune pathways are needed for appropriate targeting. We propose to evaluate transcriptomic data from single nuclei and microglial enriched nuclei, isolated from frozen cortical tissue (parietal or frontal – depending upon tissue availability) from 20 FAD carriers and establish gene expression modules annotated by neural cell type. These data will be analyzed in comparison to 20 sporadic AD and 10 pathology negative controls (funding pending for sporadic AD cases). Further computational approaches by collaborators at SAGE Bionetworks will be pursued to identify proximal molecular networks in microglial, neuronal, and other glial cell types that are both shared and distinct between FAD and SAD. Additionally, we will determine the relative representation of immune cell populations and diversity of phenotypes. These studies aim to highlight the networks mediating glial biology associated with FAD. In addition, identification of the molecular programs which are shared or distinct between FAD and SAD will be relevant for therapeutic design and disease modeling for both forms of disease.