---
title: "Stanford Extreme Phenotypes in AD (StEP AD)"
id: "2433"
type: "cohort"
slug: "stanford-extreme-phenotypes-in-ad-step-ad"
published_at: "2021-02-26T16:53:18+00:00"
modified_at: "2025-04-15T23:07:21+00:00"
url: "https://dss.niagads.org/cohorts/stanford-extreme-phenotypes-in-ad-step-ad/"
markdown_url: "https://dss.niagads.org/cohorts/stanford-extreme-phenotypes-in-ad-step-ad.md"
excerpt: "This cohort contains samples from Brains for Dementia Research (BDR) Genetics project (Dr. Kevin Morgan, PI and Directory of the Alzheimer’s Research UK (ARUK) DNA Consortium and BDR). The BDR cohort and program was for planned brain donation across five..."
taxonomy_cohort_categories:
  - "ADSP"
taxonomy_cohort_countries:
  - "England"
  - "United Kingdom"
  - "Wales"
---

## Description

This cohort contains samples from [Brains for Dementia Research](https://bdr.alzheimersresearchuk.org/)
 (BDR) Genetics project (Dr. Kevin Morgan, PI and Directory of the Alzheimer’s Research UK (ARUK) DNA Consortium and BDR).

The BDR cohort and program was for planned brain donation across five UK brain banks and one donation point, with standardized operating procedures, following longitudinal clinical and psychometric assessments for people with no cognitive impairment as well as those with dementia. See the Francis et al. publication for a detailed description about the BDR cohort set-up, clinical data, and psychometric assessment measures collected.

Francis PT, Costello H, Hayes GM. [Brains for Dementia Research: Evolution in a Longitudinal Brain Donation Cohort to Maximize Current and Future Value](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294579/)
. *J Alzheimers Dis*. 2018;66(4):1635-1644. doi:10.3233/JAD-180699

## Related Datasets

- [NG00067 – ADSP Umbrella](https://dss.niagads.org/datasets/ng00067/) This dataset includes sequencing data and harmonized phenotypes from cohorts sequenced by the Alzheimer’s Disease Sequencing Project and other AD and Related Dementia’s studies. Samples are processed using a common… [Learn more](https://dss.niagads.org/datasets/ng00067/)
- [NG00196- Genotyping short tandem repeats using the ADSP R4 cohort](https://dss.niagads.org/datasets/ng00196/) A two-step pipeline was used to first identify expanded short tandem repeats (STRs) in ADSP samples using ExpansionHunter Denovo and then genotype the identified STRs, along with additional polymorphic STRs… [Learn more](https://dss.niagads.org/datasets/ng00196/)

## Related Studies

- [sa000001 - Alzheimer’s Disease Sequencing Project (ADSP)](https://dss.niagads.org/studies/sa000001/) Background An initiative in response to the National Alzheimer’s Project Act (NAPA) has been working towards new biological insights and cures for Alzheimer’s Disease (AD) since its introduction by NIH… [Learn more](https://dss.niagads.org/studies/sa000001/)
- [sa000087 - Genotyping short tandem repeats using ADSP R4](https://dss.niagads.org/studies/sa000087/) Variation in tandem repeats (TRs), particularly large expansions of triplet repeats (e.g., polyCAG), is known to cause a number of late-onset neurological diseases. Due to their repetitive and degenerate nature,… [Learn more](https://dss.niagads.org/studies/sa000087/)

## Related Sample Sets

- [snd10020 - ADSP FUS1 WGS](https://dss.niagads.org/sample-sets/snd10020/) The ADSP-FUS is a National Institute on Aging (NIA) initiative focused on identifying genetic risk and protective variants for late-onset Alzheimer Disease (LOAD). A concern in AD genetic studies is… [Learn more](https://dss.niagads.org/sample-sets/snd10020/)
- [snd10031 - ADSP-FUS2 WGS](https://dss.niagads.org/sample-sets/snd10031/) The ADSP-FUS is a National Institute on Aging (NIA) initiative focused on identifying genetic risk and protective variants for late-onset Alzheimer Disease (LOAD). A concern in AD genetic studies is… [Learn more](https://dss.niagads.org/sample-sets/snd10031/)
- [snd10147 - ADSP R4 Short Tandem Repeats (STRs)](https://dss.niagads.org/sample-sets/snd10147/) This dataset comprises short tandem repeat (STR) genotypes from 31,681 whole-genome sequencing (WGS) samples from the ADSP R4 data release. The STRs were genotyped using ExpansionHunter with a custom catalog… [Learn more](https://dss.niagads.org/sample-sets/snd10147/)

 ```