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152
datasets available to search
ShareScore release 0.9.0
Dataset results
152 results for “Rare Diseases”
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
ClinicalTrials.gov study NCT02985710. IPD Sharing: NO. Countries: 1. Publications: 0.
Drug repurposing in rare diseases: an integrative study of drug screening and transcriptomic analysis in nephropathic cystinosis
GEO Series GSE184805. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Genome-wide survey of large rare copy number variations in Alzheimer’s disease among Caribbean Hispanics
GEO Series GSE33528. Homo sapiens. 1215 samples. Type: Genome variation profiling by SNP array.
CRISPR gene editing and inducible pluripotent stem cell neuronal disease modelling for rare disease diagnosis: EMHM1 genetic variant analysis in Kleefstra Syndrome
GEO Series GSE178646. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
GEO Series GSE185795. Homo sapiens; other sequences. 10 samples. Type: Expression profiling by high throughput sequencing; Other.
Figure 1 from: Kamusheva M, Milushewa P (2021) Rare disease patients' needs: an up-to-date analysis and future directions. Pharmacia 68(4): 763-770. https://doi.org/10.3897/pharmacia.68.e73240
Figure 1 Rare disease – future aspects.
Validation, Implementation, and Cost-analysis of a Strategy for Personalized Diagnosis of Rare Kidney Diseases
ClinicalTrials.gov study NCT06324136. IPD Sharing: NO. Countries: 1. Publications: 0.
Motherhood With MOtor Impairment Due to MAlady (Rare Disease)
ClinicalTrials.gov study NCT02727010. IPD Sharing: NO. Countries: 1. Publications: 0.
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
ClinicalTrials.gov study NCT04315727. IPD Sharing: YES. Countries: 1. Publications: 0.
Genomic Profiling of Genetic and Rare Diseases
ClinicalTrials.gov study NCT06926127. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
ClinicalTrials.gov study NCT05499091. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A
ClinicalTrials.gov study NCT06314490. IPD Sharing: NO. Countries: 1. Publications: 0.
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
ClinicalTrials.gov study NCT06360913. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Using Social Robots in Children With Rare Diseases and Their Parents: A Feasibility Study
ClinicalTrials.gov study NCT06466109. IPD Sharing: NO. Countries: 1. Publications: 0.
Collection of Biological Samples from Patients with Rare Neurological Diseases
ClinicalTrials.gov study NCT04698421. IPD Sharing: NO. Countries: 1. Publications: 0.
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
ClinicalTrials.gov study NCT06833489. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
ClinicalTrials.gov study NCT02365376. IPD Sharing: Not stated. Countries: 1. Publications: 0.
The Belgian Genome Resource to Resolve Rare Diseases
ClinicalTrials.gov study NCT07051213. IPD Sharing: YES. Countries: 1. Publications: 0.
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
ClinicalTrials.gov study NCT05696912. IPD Sharing: NO. Countries: 1. Publications: 0.
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
ClinicalTrials.gov study NCT06491615. IPD Sharing: NO. Countries: 1. Publications: 0.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.