---
title: "UAB/HudsonAlpha Families with Neurodegenerative Diseases"
id: "8073"
type: "study"
slug: "sa000067"
published_at: "2025-03-31T17:27:09+00:00"
modified_at: "2026-03-26T16:38:01+00:00"
url: "https://dss.niagads.org/studies/sa000067/"
markdown_url: "https://dss.niagads.org/studies/sa000067.md"
excerpt: "This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to have a genetic component using whole genome sequencing. In addition,..."
---

## Description

This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to have a genetic component using whole genome sequencing. In addition, relatives of probands are also sequenced when available. When a diagnostic genetic variant is identified, the result is validated with clinical sanger and the result is returned to the patient. Patients for which a diagnostic variant is not identified are available for analysis in larger case-control studies if consent is given to do so.

## PI

**Richard Myers**

*Hudson Alpha*

**Erik Roberson**

*University of Alabama*

**Nicholas (Nick) Cochran**  
*Hudson Alpha*

## Associated Datasets

- [NG00082 - UAB/HudsonAlpha Families with Neurodegenerative Diseases](https://dss.niagads.org/datasets/ng00082/) This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to… [Learn more](https://dss.niagads.org/datasets/ng00082/)

## Associated Sample Sets

- [snd10115 - UAB/HudsonAlpha Families with Neurodegenerative Diseases - Set1 (2019)](https://dss.niagads.org/sample-sets/snd10115/) This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to… [Learn more](https://dss.niagads.org/sample-sets/snd10115/)
- [snd10116 - UAB/HudsonAlpha Families with Neurodegenerative Diseases - Set2 (2024)](https://dss.niagads.org/sample-sets/snd10116/) This study (UAB IRB study title: Evaluation of Genomic Variants in Patients with Neurologic Diseases) is to evaluate patients with early onset and/or atypical neurodegenerative diseases that are suspected to… [Learn more](https://dss.niagads.org/sample-sets/snd10116/)

## Cohorts

- [UAB/HudsonAlpha Families with Neurodegenerative Diseases](https://dss.niagads.org/cohorts/uab-hudsonalpha-families-with-neurodegenerative-diseases/) We collected and analyzed genomic sequencing data from individuals with clinician-diagnosed early-onset or atypical dementia and, in many cases, their family members. One hundred total patients were described. Pathogenic variants,… [Learn more](https://dss.niagads.org/cohorts/uab-hudsonalpha-families-with-neurodegenerative-diseases/)

## Grants

The results published here are in whole or part based upon data generated by the HudsonAlpha Institute for Biotechnology and the University of Alabama at Birmingham and supported by the Daniel Foundation of Alabama and the HudsonAlpha Memory & Mobility Fund.

## Acknowledgement

### Acknowledgment statement for any data distributed by NIAGADS:

Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer's Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.

### For investigators using UAB/HudsonAlpha Families with Neurodegenerative Diseases data:

The results published here are in whole or part based upon data generated by the HudsonAlpha Institute for Biotechnology and the University of Alabama at Birmingham and supported by the Daniel Foundation of Alabama and the HudsonAlpha Memory & Mobility Fund.

## Publications

- Wright CA. **Contributions of rare and common variation to early-onset and atypical dementia risk.***Cold Spring Harbor molecular case studies. 2023 Jun.*[PubMed link](https://pubmed.ncbi.nlm.nih.gov/37308299/)