Search DIAN Tissue Requests
In order to avoid the situation where two investigators study the same research question, please search our database to determine if your topic has already been studied. If you find that your topic or a related topic has already been submitted, you may wish to contact the investigator to inquire about his/her findings to determine how you might proceed. You may wish to collaborate or modify your request to avoid overlap. The results below reflect requests made since online requests have been accepted. As such, not all fields will have data as certain information, such as aims, were not collected until recently. If an entry has been assigned an ID # (e.g. DIAN-T1004), the full request has been submitted and is either approved, disapproved or in process.
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Therapeutic development for familial Alzheimer’s disease
To determine whether therapeutic candidates can affect Abeta processing in cultured fibroblasts from autosomal dominant Alzheimer disease (ADAD) patients with PSEN1 mutations
Brain DNA methylation in Autosomal Dominant Alzheimer’s disease
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.
Fluid NfL levels to be used as control and run-in data for the DIAN TU
To measure NfL levels in CSF and matched plasma smaples for use as control and run-in data in the DIAN TU
Genomic-based biomarkers for Alzheimer’s Disease
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
Gene therapy for familial Alzheimer’s disease
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
Truncated tau species tau224 and tau368 in CSF and P-tau181 in plasma in familial AD as indicators of pathological brain tau metabolism
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
SYNAPTOJANIN 1 LEVELS IN DOMINANTLY INHERITED ALZHEIMER’S DISEASE
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
Pharmacological Validation of SERCA Activators for Diabetes Associated ADRD
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
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
RIPK1 regulated metabolic biomarkers
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