Search DIAN Data Resource Requests

Title:Identification of common pathways across Alzheimer Disease phenotypes.

Date of Request:10/06/2019

Aim 1:Transcriptomic profiling of AD brains

Aim 2:eQTL profiling of AD brains

Title:Alzheimer's dementia onset and progression in international cohorts

Date of Request:09/23/2019

Aim 1:Using unsupervised machine learning techniques (latent Gaussian processes, auto encoders, disentanglement) in order to identify ‘pure’ (and potentially highly non-linear) Alzheimer factors using DIAN cohort.

Aim 2:Study the utility of the resulting latent structure for progression prediction of the late-onset patients.

Title:Role of toxoplasmosis in AD

Date of Request:09/09/2019

Aim 1:Evaluate differences in amyloid PET based on Toxoplasma serological status

Aim 2:Evaluate differences in cognative function based on Toxoplasma serological status

Title:The effect of exercise participation on Aβ accumulation, CSF biomarkers and brain atrophy and age at onset

Date of Request:08/27/2019

Aim 1:1. Compare the rates of brain Aβ accumulation between exercising and sedentary asymptomatic mutation carriers.

Aim 2:2. Compare longitudinal changes in CSF levels of Aβ and tau between exercising and sedentary asymptomatic mutation carriers.

Aim 3:3. Compare rates of hippocampal and prefrontal cortex atrophy between exercising and sedentary asymptomatic mutation carriers.

Aim 44. Examine the relationship between baseline exercise levels and age at onset in symptomatic mutation carriers.

Title:Head to head comparison of CSF assay platforms for identifying amyloid positivity

Date of Request:08/20/2019

Aim 1:To compare the analytic performance of the two automated assay platforms (Elecsys and Lumipulse) for measurement of CSF AB40, AB42, total tau and ptau181 in a common sub-cohort of DIAN samples

Aim 2:To define the best-performing CSF biomarker cut-point(s) for amyloid PET positivity for each of the assay platforms

Title:Drug-disease-trial model for Alzheimer's prevention drug development

Date of Request:07/22/2019

Aim 1:Develop a drug-disease trial model to optimize clinical trial design in Alzheimer's prevention

Aim 2:Submit the model for regulatory endorsement at FDA and EMA

Aim 3:Develop a graphical user interface for the model

Aim 4Make model publicly available

Title:Modelling Alzheimer’s disease with human neurons generated by direct conversion (reprogramming) of patient fibroblasts

Date of Request:07/14/2019

Aim 1:Developing cellular models of AD through direct neuronal reprogramming

Aim 2:Application of direct neuronal reprogramming in patient fibroblasts

Title:Biomarker Characterization of a Novel Truncation Mutation in PSEN1

Date of Request:07/13/2019

Status:approved

ID:DIAN-D1920

Aim 1:To describe CSF profile of AD biomarkers including but not limited to Abeta and tau subspecies in a patient with a novel truncation mutation in PSEN1

Aim 2:To describe imaging characteristics (MRI, FDG, Amyloid PET) of the novel PSEN1 truncation mutation

Title:Select Eligible DIAN-OBS Participants for the DIAN-TU Primary Analysis

Date of Request:07/10/2019

Aim 1:Select Eligible DIAN-OBS Participants for the DIAN-TU Primary Analysis

Title:Psychosis in dominantly inherited Alzheimer’s disease

Date of Request:07/08/2019

Aim 1:To determine the frequency of psychosis in DIAN family members, and to explore associations between psychosis and different genotypes

Aim 2:To examine the relationship between neuropsychiatric symptoms and estimated years to and from cognitive symptom onse

Aim 3:3. To determine if there is a relationship, and any potential interaction, between psychotic symptoms and previously reported risk/modifier alleles (5HT2A receptor polymorphism, SNPs in RP11-541P9.3, ApoE status) and environmental risk factors (e.g. history of substance abuse)

Aim 44. To explore associations between neuropsychiatric symptoms and fluid, imaging and cognitive biomarkers of disease