PubMed
Database for studies, reviews, and related genes/diseases.
ResearchGate
Search for authors or researchers working on your gene.
NCATS Toolkit for Patient-Focused Therapy Development
Provides online resources to help patient groups with research, registries, and clinical trial readiness.
National Organization for Rare Diseases
Advances research, advocacy, education, and patient assistance. Provides resources for diagnosis, helps patients find specialists, and offers financial assistance for medications and travel.
Rare Diseases Clinical Research Network (RDCRN)
Advances medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment, and data sharing.
PEDSnet
A network of pediatric health systems that connects to disease registries, longitudinal observational studies, and clinicians and scientists.
Clinical Trials
Track ongoing clinical trials and investigational therapies.
Rare Bootcamp
A multi-day forum to provide parents and other patient advocates seeking to develop rare disease therapies with an opportunity to connect with their peers and to learn from rare disease drug development experts.
NIH Reporter
Allows foundations to see if there are government grants related to their condition and may help connect them to researchers.
American Society of Gene + Cell Therapy (ASGCT)
Brings together scientists, physicians, patient advocates, and other stakeholders focused on genetic and cellular therapies.
EveryLife Foundation for Rare Diseases
Non-profit providing policy and science support, guidance, and connections to advocacy programs.
Genetic and Rare Diseases Information Center
Provides free access to information, diagnosis, and resources.
Coriell Institute for Medical Research
Search to discover if cell lines already exist for a specific disease.
Orphanet
Provides high-quality information on rare diseases and ensures equal access to knowledge for all stakeholders. Maintains the Orphanet rare disease nomenclature (ORPHAcode).
PCORI (Patient-Centered Outcomes Research Institute)
A leader in driving U.S. clinical research to be more patient-centered, which results in evidence that is more relevant and useful.
rtw Foundation
Expert, personalized guidance and operational support to ultra-rare disease foundations at every stage of development.
Global Genes
Provides rare disease advocates with the tools, training, and trust to lead – to activate communities, advance research, and widen the drug development pipeline.
Disease registries/advocacy networks
Find more specific knowledge, build patient cohorts, and connect to researchers. Look for disease nonprofits, NIH/ORDR (Office of Rare Diseases) programs, or academic consortia.
Consulting networks
Networks like RARE Science and CureGRIN connect patient-led groups to experienced biotech mentors.
Disease-specific foundations
These organizations often share or mentor through advisory boards (e.g., Global Genes RARE-X, EveryLife Foundation).
Simons Foundation
A leader in driving U.S. clinical research to be more patient-centered, which results in evidence that is more relevant and useful.
