Rare Diseases Information Toolkit

Engages individuals, families and communities to transform health and create better care for rare diseases.

The Li Weibo Institute aims to accelerate the development of novel therapeutics for a variety of rare diseases by leveraging faculty expertise and innovative research platforms.

NCATS conducts research and sponsors a variety of grants so that new treatments can reach patients faster.

Provides a variety of resources for clinicians and researchers about rare disease research.

The Orphan Disease Center develops transformative therapies that can be used for multiple rare diseases, with an emphasis on diseases with substantially unmet needs.

The RDCRN is designed to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.

UDN is a research study under the National Institutes of Health that seeks to provide answers for patients and families affected by conditions on which there is little knowledge.

Explore PubMed's 37 million+ citations for biomedical literature from MEDLINE, life science journals, and online books to find research on rare diseases.

MalaCards is a searchable, integrated knowledgebase offering comprehensive, user-friendly information on rare diseases.

Provides an encyclopedia on rare diseases and orphan drugs, as well as directories of professionals, institutions, and ongoing research projects.

The NLM Bookshelf provides free online access to books and documents in life science and healthcare.

A searchable database that provides user-friendly information on all annotated and predicted human genes, including those related to rare genetic diseases.

The HPO provides a standardized vocabulary of phenotypic abnormalities encountered in human disease.

The Monarch Initiative is an international consortium that leads key global standards and semantic integration of biomedical and model organism data with the ultimate goal of improving biomedical research.

ClinVar compiles information about genomic variation and its relationship to human health.

Physicians and other health care professionals can use this catalog to find information on genetic disorders.

The GTR provides a central location for voluntary submission of genetic test information by providers in an effort to advance public health and research into the genetic basis of health and disease.

Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

GeneReviews provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, including genetic counseling for patients and their families.

A collection of articles that discuss genes and the diseases that they cause, organized by the parts of the body that they affect.

Organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution.

RefSeqGene defines genomic sequences to be used as reference standards for well-characterized genes and is part of the Locus Reference Genomic (LRG) Project.

Use this site to look up clinical trials regarding rare diseases and learn about the process of clinical trials.

Many rare diseases have no Food and Drug Administration (FDA) approved treatments. Every Cure seeks to research the repurposing of existing drugs to treat rare diseases.

The N=1 Collaborative is an international network of experts working together to bring individualized treatments to rare disease patients.

This toolkit can help you learn about how therapies (drugs, biologics, and medical devices) are developed, why it is important for patients to engage throughout the process, and how to build relationships with key partners.

The BGTC establishes platforms and standards to speed the development and delivery of customized or “bespoke” gene therapies that could treat millions of people affected by rare diseases.

The Assay Guidance Manual Program aims to create and disseminate best laboratory practices, tools for data analysis, and standards for rigor in preclinical drug discovery.

This manual has been adapted to provide guidelines for scientists in academic, non-profit, government and industrial research laboratories to develop assay formats compatible with High Throughput Screening (HTS) and Structure Activity Relationship (SAR) measurements of new and known molecular entities.

A list of drug development resources for the rare disease community.

NORD's IAMRARE Program is a user-friendly system that allows patients and organizations to inform and shape medical research and translational science for rare diseases by launching high-quality, customized registries to collect the data needed to define the natural progression of their disease.

RaDaR provides advice on setting up and maintaining good-quality registries for rare diseases to stimulate research.

Use these resources to advance your ability to research rare diseases.

A free, one-year virtual program designed to equip and serve early career clinical researchers who are looking into the field of rare disease.

This toolkit contains essential knowledge about what researchers need to know before embarking on a clinical trial. Topics address study startup, study documents, consent, oversight, management, and safety. The PORTICO Project is a National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) Core Center of Excellence in Clinical Research focused on Pediatric Musculoskeletal Diseases (PMSKD).

Explains the importance of data standardization in the field of rare disease.

This network offers a variety of rare disease fellowship and grant funding opportunities. Use the filters to search these opportunities by type, application status, and research area.

NORD’s Rare Disease Research Grants Program provides seed-money grants to qualified investigators for scientific and/or clinical research in an effort to discover new diagnostics, treatments, and/or cures for rare diseases. Learn about the application process here.

NORD Research Grants provide seed grants to academic scientists for translational or clinical studies that further development of potential new diagnostics or treatments of rare diseases.

This online platform allows learners to educate themselves about rare diseases.

Here you can find a collection of videos that educate both healthcare professionals and patients on rare diseases.