DIAN Tissue Resource Requests
Carlos Cruchaga
Identification of mutation-specific networks. Amended
11/02/2017
Pending
DIAN-T1710
To generate RNA-seq data from brain tissue from DIAN participants (mutation carriers and non-carriers)
To identify genes differentially expressed or spliced in mutation carriers vs LOAD, and vs controls
To identify gene and mutation-specific networks and pathways
Mikael Simons
Lipidomics study of preclinical plasma biomarkers for Alzheimer´s disease
10/11/2017
Pending
DIAN T1709
Establish a preclinical biomarker for AD
Determine lipid profiles in preclinical AD
Compare lipid profiles in DIAN and Framingham
Determine longitudinal changes of lipid profiles during disease
Laurent Roybon
AD pathology in advanced cellular models
09/10/2017
Pending review
DIAN-T1708
Generation of iPSCs from AD patient fibroblasts
Differentiation of AD iPSCs into neurons
Analysis of cellular networks dysfunction
Makoto Ishii
Leptin and metabolic signaling in autosomal dominant Alzheimer’s disease
09/07/2017
Pending review
DIAN-T1707
To determine if alterations in levels of plasma leptin and related metabolic markers are evident in cognitively normal subjects with autosomal dominant Alzheimer’s disease
To determine if alterations in plasma leptin levels and related metabolic markers correlate with changes in Alzheimer’s disease biomarkers in subjects with autosomal dominant Alzheimer’s disease
To determine if levels of plasma leptin and related metabolic markers correlate with worsening Alzheimer’s disease biomarkers and progression of cognitive decline over time (age) in subjects with autosomal dominant Alzheimer’s disease
Steve Wagner, Ph.D.
Preclinical validation of target engagement for a potent disease modifying therapeutic for AD in dominantly inherited EOFAD patient induced human neurons
08/16/2017
DIAN-T1706
Demonstrate target engagement against human neurons harboring EOFAD mutations
Evaluation of the effects of GSMs in hiPSC in-vitro systems on downstream AD pathways
Randall Bateman
DIAN-ADNI comparison study
2/23/2017
DIAN-T1703
In LOAD and ADAD determine whether both groups demonstrate initial cerebral amyloidosis that is followed by the development of neurodegeneration prior to onset of AD symptoms
Characterize similarities and any differences in AD phenotypes between LOAD and ADAD
In both LOAD and ADAD, determine whether there is a pattern of disease progression that is marked by intra-individual global cognitive and functional decline that culminates in death
Examine the contribution of age to the dementing process.
Cruchaga
Genetic architecture of CSF biomarker levels in ADAD
2/27/2017
DIAN-T1702
To identify genetic variants and genes associated with CSF biomaker levels in DIAN
To determine the overlap in the genetic architecture of late-onset sporadic AD with ADAD
To identify protective and modifiers variants for AD
Alison Goate
Characterization of γ-Secretase in fibroblasts derived from FAD patients harboring PSEN1or PSEN2 mutations
3/9/2017
DIAN-T1704
Determine in vitro γ-secretase activity for Aβ40 and Aβ42 production using fibroblast cell membranes
Characterize the γ-secretase complexes in fibroblast cell membranes
Examine the sensitivity of various modulators and inhibitors to γ-secretase in fibroblast cell membranes
Eric McDade
Comprehensive CSF tau profiling in DIAN using a novel mass spectrometry
5/10/2017
DIAN-T1705
Determine stage of the disease where additional p-tau isoforms (particularly p-tau Thr 217) begin to differ between MC and NC based on EYO and Aβ status, and compare this to the currently used immunoassay measures of tau and p-tau181.
Determine longitudinal change (quantitative change / mean and SD) of the various p-tau isoforms identified as it relates to disease stage and how this compares to the currently used immunoassay measures of tau and p-tau181.
Assess the association between baseline and longitudinal CSF MS p-tau isoforms and other measures of disease (neuroimaging- FDG �PET, MRI volumetrics and tau �PET; clinical- CDR, cognition).
Compare the comprehensive CSF tau profile identified in DIAN with that completed and underway in sAD at Washington University by Drs. Barth�lemy and Bateman.
Bernadino Ghetti
Neuropathological findings of brains of persons with familial AD (FAD) due to the A431E PSEN1 mutation
12/5/2011
A
DIAN-T1102
To thoroughly characterize and describe the neuropathological findings of 11 brains of persons with familial AD (FAD) due to the A431E PSEN1 mutation.
To correlate pathological findings with clinical findings in these patients.
To explain specific clinical and imaging features of the A431E mutation by quantifying aspects of the neuropathology.