Thousands of rare disease patients and families have entered their health data in the RARE-X Data Collection Program (DCP), allowing researchers from around the world to access their deidentified data and help further their research.
Any person or guardian with a diagnosed or undiagnosed rare disease can participate in the DCP. We work with Patient Advocacy Groups to organize their communities and encourage participation in their disease’s Data Collection Program on the RARE-X platform.
Patients & Caregivers
Review the list of diseases participating in the DCP below. Don’t see yours listed? Create an account to get started.
Patient Advocacy Groups
More than 80 patient advocacy groups representing 57 disease communities are hosting their data on RARE-X. Learn more here.
Researchers
Learn more about the data collected in the RARE-X DCP and how to gain access to deidentified patient data here.
Rare Disease Communities Active on the RARE-X Platform
- 4H Leukodystrophy (https://rare-x.org/4hleukodystrophy/)
- 8p (https://rare-x.org/8p/)
- Achondroplasia & Other Skeletal Dysplasias (https://rare-x.org/ach-osd/)
- ADCY5-related Dyskinesia (https://rare-x.org/adcy5-related-dyskinesia/)
- ADOA-Autosomal Dominant Optic Atrophy (https://rare-x.org/adoa/)
- ADSL Deficiency (https://rare-x.org/adsld/)
- Alternating Hemiplegia of Childhood (AHC) (https://rare-x.org/ahc/)
- AP-4 Hereditary Spastic Paraplegia (https://rare-x.org/ap-4/)
- ARHGEF9 gene (https://rare-x.org/arhgef9disorders/
- BCAP31 (https://rare-x.org/bcap31/)
- Bloom Syndrome (https://rare-x.org/bloomsyndrome/)
- BPAN/WDR45 Beta-Propeller Protein-Associated Neurodegeneration (https://rare-x.org/bpan/)
- CACNA1A (https://rare-x.org/cacna1a/)
- CASK Gene Mutations (https://rare-x.org/cask/)
- CHAMP1 (https://rare-x.org/champ1/)
- Charcot-Marie-Tooth disease (CMT4B3) (https://rare-x.org/cmt4b3/)
- CHD2 (https://rare-x.org/chd2/)
- CHOPS Syndrome (https://rare-x.org/chops/)
- Chorea- Acanthocytosis (https://rare-x.org/choreaacanthocytosis/)
- Dent Disease (https://rare-x.org/dentdisease/)
- DESSH/DeSanto-Shinawi Syndrome (https://rare-x.org/dessh/)
- DHDDS-related neurodevelopmental disorder
- DLG4-related Disorders (https://rare-x.org/dlg4/)
- Dopamine Transporter Deficiency Syndrome (DTDS) (https://rare-x.org/dtds/)
- DYRK1A Syndrome (https://rare-x.org/dyrk1a/)
- Dyskeratosis Congenita and related Telomere Biology Disorders (https://rare-x.org/tbd-dc/)
- FAM177A1 Associated Disorder (https://rare-x.org/fam177a1/)
- FOXP1 (https://rare-x.org/foxp1/)
- Glycogen Storage Disease 1b (GSD1b) (https://rare-x.org/gsd1b/)
- H-ABC/TUBB4A (https://rare-x.org/h-abc-tubb4a/)
- Homocystinuria (HCU) (https://rare-x.org/homocystinuria/)
- Huntington’s Disease (https://rare-x.org/huntingtonsdisease/)
- HUWE1 (https://rare-x.org/huwe1/)
- HypoPARAthyroidism (https://rare-x.org/hypoparathyroidism/)
- Indousrare (https://rare-x.org/indousrare/)
- Infantile Neuroaxonal Dystrophy (https://rare-x.org/infantileneuroaxonaldystrophy/)
- Jeavons syndrome (Epilepsy with Eyelid Myoclonia) (https://rare-x.org/jeavons-syndrome/)
- KDM5C (https://rare-x.org/kdm5c/)
- Kleefstra (https://rare-x.org/kleefstra/)
- Koolen-de Vries Syndrome (https://rare-x.org/kdvsf/)
- Leber Hereditary Optic Neuropathy (LHON) (https://rare-x.org/lhon/)
- Lennox-Gastaut syndrome (LGS) (https://rare-x.org/lgs/)
- Malan syndrome (https://rare-x.org/malansyndrome/)
- McLeod Neuroacanthocytosis Syndrome (https://rare-x.org/mcleodneuroacanthocytosissyndrome/)
- MED13L-related disorders (https://rare-x.org/med13l/)
- MSL3 (https://rare-x.org/msl3syndrome/)
- NALCN Channel-related disorders (including IHRPF)
- NARS1 genetic mutation (https://rare-x.org/nars1/)
- Nonsense Mutations (https://rare-x.org/nonsensemutations/)
- Ogden Syndrome (https://rare-x.org/1ogden/)
- Pallister-Killian Syndrome (https://rare-x.org/pks/)
- Pompe Disease (https://rare-x.org/pompe/)
- Ring 14 (https://rare-x.org/ring14/)
- Salla Disease and related Free Sialic Acid Storage Disorders- FSASD (https://rare-x.org/salla-research/)
- SCAR15 Spinocerebellar Ataxia Recessive Type 15
- SETBP1 haploinsufficiency disorder (https://rare-x.org/setbp1/)
- SHANK2-related disorders (https://rare-x.org/shank2/)
- Sleep Consortium (https://rare-x.org/sleepconsortium/)
- SMARD (Spinal Muscular Atrophy with Respiratory Distress – https://rare-x.org/smard/)
- SNAP25-related disorders
- SRRM2-related disorders (https://rare-x.org/srrm2/)
- STXBP1 (https://rare-x.org/stxbp1/)
- SYNGAP1 (https://rare-x.org/syngap1/)
- TANC2-related disorders (https://rare-x.org/tanc2/)
- TBCK Syndrome (https://rare-x.org/tbck/)
- Tolchin-Le Caignec Syndrome (SOX6) (https://rare-x.org/sox6/)
- UBA5-related disorders (https://rare-x.org/uba5/)
- Undiagnosed (https://rare-x.org/undiagnosed/)
- Usher Syndrome (https://rare-x.org/ushersyndrome/)
- V-ATPase related disorders (https://rare-x.org/v-atpase/)
- Vici syndrome (https://rare-x.org/vicisyndrome/)
- Wiedemann-Steiner Syndrome (WSS) (https://rare-x.org/wss/)
- YWHAG-related conditions
- ZTTK-related disorder (https://rare-x.org/zttk/)
Is your rare disease undiagnosed?
Even one undiagnosed patient can benefit from some of the new science now available in the world of rare disease. Patients who are called “undiagnosed” may be the only patient in the world with their condition. These patients are also called “N-of-1” patients, and for these patients, there are now research methods that can support N-of-1 studies. Some leading research supporting N-of-1 patients includes Gene Therapy and CRSPR. We have developed an effortless way for you to become an informed and supported data generator and contributor. RARE-X developed a platform to guide you through consent, support who you want to share your data with and provide a framework for collecting your valuable health data. You can begin sharing your data here.
