HDinHD

HDinHD

Overview

HDinHD

HDinHD (Huntington’s Disease in High Definition; HDinHD.org) is an open online portal for the HD research community that presents a synthesized view of HD-related, largely pre-clinical, scientific data.

The goal of HDinHD is to foster and support a collaborative community united in its drive to accelerate the development of therapeutics that will delay the onset and/or ameliorate the effects of Huntington’s disease. HDinHD seeks to achieve this through:

We highlight several components from HDinHD’s Downloads and Tools sections below.

An overview of HDinHD componentry, featuring a demonstration of the HD Explorer.

This video was originally presented at the annual CHDI HD Therapeutics Conference, April 27-29 2021.

Play Video

TOOLS

GWAS

The following tools were developed by the Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium in order to provide access to genome-wide findings from Huntington’s disease genetic modifiers analyses.

GeM MOA SNP Viewer

Summary findings from Huntington’s disease genome-wide association studies that seek out genes that influence the pathogenesis and expression of Huntington’s disease (PMID: 26232222 and PMID: 26444025).

GeM Euro 9K

Visualization tools and summary results of a genome-wide association study to identify genetic modifiers of Huntington’s disease conducted by the GeM-HD Consortium (PMID: 31398342 and PMID: 34180418).

Tools

HD Explorer

HD Explorer presents an integrated network of HD experimental data curated and analyzed from the literature, community ‘omics repositories and newly-released internal CHDI reports. HD Explorer includes the following components:

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Publications and CHDI Reports

PubMed articles or CHDI program reports referred to within the HDinHD ecosystem. Most publications are linked to experimental data detailed across HDinHD.

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Htt Interactor Studies

HTT (either mutant or WT) protein-protein interaction reports - both positive and negative - curated from the literature.

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Perturbation Studies

Methods, outcomes and experimental details from interventional (pharmacological, genetic, lifestyle, etc.) studies applied to an HD model. Data has been curated from >1,200 PubMed articles and CHDI program reports.

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Omics Studies

HD and HD-related datasets drawn from GEO, PRIDE and ArrayExpress molecular studies. Datasets are curated and analyzed, and links are provided to gene sets resulting from these analyses.

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Gene Sets

Gene sets derived from publications, CHDI program reports and community 'omics repositories. These gene sets compose HDSigDB , a Gene Set Enrichment Library designed to provide rich functional context for HD-related gene set enrichment analysis.

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HD Mouse Models

A catalog of distinct HD Mouse models described in the literature. Individual mouse model lines are bi-directionally linked within HD Explorer to/from published experimental data generated using that mouse model.

Current as of Apr 1, 2022

Publications and CHDI Reports

PubMed articles or CHDI program reports referred to within the HDinHD ecosystem. Most publications are linked to experimental data detailed across HDinHD.

Htt Interactor Studies

HTT (either mutant or WT) protein-protein interaction reports - both positive and negative - curated from the literature.

Perturbation Studies

Methods, outcomes and experimental details from interventional (pharmacological, genetic, lifestyle, etc.) studies applied to an HD model. Data has been curated from >1,200 PubMed articles and CHDI program reports.

Omics Studies

HD and HD-related datasets drawn from GEO, PRIDE and ArrayExpress molecular studies. Datasets are curated and analyzed, and links are provided to gene sets resulting from these analyses.

Gene Sets

Gene sets derived from publications, CHDI program reports and community 'omics repositories. These gene sets compose HDSigDB , a Gene Set Enrichment Library designed to provide rich functional context for HD-related gene set enrichment analysis.

HD Mouse Models

A catalog of distinct HD Mouse models described in the literature. Individual mouse model lines are bi-directionally linked within HD Explorer to/from published experimental data generated using that mouse model.

Current as of Apr 1, 2022

Download

Molecular signatures in mouse striatum

Our partners at Rancho BioSciences performed a comprehensive analysis of gene and protein data generated from an allelic series of knock-in (KI) mice containing an increasing number of CAG repeats. A 266 striatal gene disease signature and a 115 striatal protein disease signature were developed and validated in external datasets. These signatures represent molecular readouts of disease progression in models of HD mice, further characterize their HD-related phenotype and can be useful in the preclinical evaluation of candidate therapeutic interventions.

The Downloads section of HDinHD includes a Striatum Disease signature section, containing the following:

The manuscript can also be downloaded from the bioRxiv.