Table 2.
Non-exhaustive list of on-line rare disease knowledge, education and training resources
| Type of resources | Knowledge, education and training resources | Description |
|---|---|---|
| Knowledge bases, the main organizations for rare diseases | Orphanet; https://www.orpha.net/consor/cgi-bin/index.php | Portal for rare diseases and orphan drugs |
| OMIMa; https://www.omim.org/ | Online Catalog of Human Genes and Genetic Disorders | |
| EURORDIS; https://www.eurordis.org/ | Alliance of patient organizations representing > 900 rare disease patient organizations in >70 countries | |
| NORD; https://rarediseases.org/ | Umbrella of > 300 patient organizations | |
| European Medicines Agency. Orphan designation: overview; https://www.ema.europa.eu/en/human-regulatory/overview/orphan-designation-overview | Information about Orphan medicines in the EU | |
| IRDiRC; https://irdirc.org/ | International Rare Diseases Research Consortium that promotes international collaboration and advance RD research worldwide | |
| GeneReviews; https://www.ncbi.nlm.nih.gov/books/NBK1116/ | Information on inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling | |
| European Reference Networks |
Information and links: https://www.orpha.net/consor/cgi-bin/Clinics_ERN.php?lng=EN; https://ec.europa.eu/health/ern_en ERN on rare bone diseases: ERN BOND; https://ernbond.eu/ ERN for rare and/or complex craniofacial anomalies and ear, nose and throat (ENT) disorders: ERN CRANIO; https://ern-cranio.eu/ ERN on rare endocrine disorders: Endo-ERN; https://endo-ern.eu/ ERN on rare and complex epilepsies: EpiCARE; https://epi-care.eu/ ERN on rare kidney diseases: ERKNet; https://www.erknet.org/ ERN on rare neurological diseases: ERN-RND; https://www.ern-rnd.eu/ ERN on rare and congenital anomalies: ERNICA; https://ern-ernica.eu/ ERN on rare respiratory diseases: ERN-LUNG; https://ern-lung.eu/ ERN on rare and undiagnosed skin disorders: ERN-Skin; https://ern-skin.eu/ ERN on rare adult solid tumours: EURACAN; https://euracan.eu/ ERN on rare hematological disorders: EuroBloodNet; http://www.eurobloodnet.eu/index/ ERN on rare neuromuscular diseases: EURO-NMD; https://ern-euro-nmd.eu/ ERN on rare eye diseases: ERN-EYE; https://www.ern-eye.eu/ ERN on genetic tumour risk syndromes: GENTURIS; https://www.genturis.eu/l=eng/Home.html ERN on rare urogenital disorders: eUROGEN; https://eurogen-ern.eu/ ERN on rare and complex diseases of the heart: ERN GUARD-Heart; https://guardheart.ern-net.eu/ ERN on rare congenital malformations and rare intellectual disability: ERN ITHACA; https://ern-ithaca.eu/ ERN on inherited metabolic diseases: MetabERN; https://metab.ern-net.eu/ ERN on pediatric cancer: ERN PaedCan; https://paedcan.ern-net.eu/ ERN on rare hepatological diseases: ERN RARE-LIVER; https://rare-liver.eu/ ERN on rare connective tissue and musculosceletal disorders: ERN ReCONNET; https://reconnet.ern-net.eu/ ERN on rare immunodeficiency, autoinflammatory and autoimmune diseases: ERN RITA; https://ern-rita.org/ ERN on transplantation in children: ERN TransplantChild; https://www.transplantchild.eu/ ERN on rare multisystemic vascular diseases: VASCERN; https://vascern.eu/ |
|
| Professional organizationsb | European Union of Medical Specialties (UEMS): Multidisciplinary Committee on Rare and Undiagnosed Diseases (MJC RUD); https://uems-genetics.org/links.html | Develops competency training requirements and syllabuses for rare and undiagnosed diseases and rare cancers, organizes European examinations |
| Society for the Study of Inborn Errors of Metabolism (SSIEM); https://www.ssiem.org/training | Organize SSIEM Academy courses on inherited metabolic diseases | |
| Rare Cancers Europe; https://www.rarecancerseurope.org/events | Training courses for patient advocates in rare cancers, developed together with ESMO and ESO | |
| European Society of Human Genetics (ESHG)a; https://www.eshg.org/index.php?id=education | Provides courses and various educational resources for human genetics | |
| International Society of Pediatric Oncology (SIOP); https://casehippo.com/spa/courses/catalog/siop/home | SIOP Knowledge Centre provides educational resources on pediatric cancers | |
| International Society of Amyloidosis; https://www.isaamyloidosis.org/meetings-education | Provides workshops and seminars on amyloidosis | |
| European Society for Pediatric Nephrology (ESPN)a; https://www.espn-online.org/espn-ipna-erknet-educational-best-clinical-practice-webinars/# | Provides webinars and other educational resources on rare pediatric kidney diseases (in collaboration with ERN ERKNet) | |
| European Society of Endocrinologya https://www.ese-hormones.org/about-us/committees/rare-disease-committee/ and European Society of Pediatric Endocrinologya https://www.eurospe.org/education/ | Provides some education and awareness raising on rare endocrine diseases (in collaboration with Endo-ERN) | |
| International League Against Epilepsiesa; https://www.ilae.org/education | Provides some e-learning modules on rare epilepsies | |
| European Academy of Neurologya; https://www.ean.org/learn/joint-webinars | Provides educational programme (developed in collaboration with ERN-RND and ERN-EuroNMD) | |
| European Respiratory Societya; https://www.ers-education.org/collections/educational-material-on-rare-diseases/ | Provides some educational e-learning materials for rare respiratory diseases (developed in collaboration with ERN-LUNG) | |
| European Society of Medical Oncologya (ESMO) | Provides some educational resources on rare cancers (in collaboration with EURACAN) | |
| European Hematology association; https://ehaweb.org/education/ | Provides some educational resources on rare hematological diseases (in collaboration with EuroBloodNet) | |
| European Association for the Study of the Livera; https://easlcampus.eu/ern-on-demand | Provides webinars on rare liver diseases (in collaboration with ERN RARE-LIVER) | |
| Education and training resourcesb | ESHG Genetic Educational Materials and Sourcesa; https://www.eurogems.org/index.html | A compendium of genetic information and resources |
| European School of Oncologya; https://www.eso.net/ | Organization for education and training in cancer | |
| EURORDIS Open Academy; https://openacademy.eurordis.org/ | Capacity-building programmes for patient advocates and mixed audiences | |
| BBMRI.QM Academya; https://www.bbmri-eric.eu/services/e-learning/ | E-learning resources on biobanking | |
| Elixir Training Platforma; https://elixir-europe.org/platforms/training | Education and training resources on life sciences | |
| EATRIS Transmed Academy—course on translational medicinea; https://eatris.eu/services/education/a | e-learning platform which hosts online courses as well as recordings of webinar series | |
| European Patients’ Academy Webinarsa; https://www.eupati.eu/category/webinar/ | 12 webinars from EUPATI, for patients and advocates | |
| European Patients’ Academy Expert Training Coursea; https://www.eupati.eu/eupati-training-course/ | Online course in medicines research and development. Not solely focused on rare diseases | |
| Integrated DEsign and AnaLysis of clinical trials in small population group (IDeAl) resources; https://www.ideal.rwth-aachen.de/?page_id=1732 | Webinar Series on Integrated DEsign and AnaLysis of small population group trials | |
| Research Data Management online coursesa; https://vidensportal.deic.dk/en/RDMELearn | eLearning course about the importance of good research data management (RDM) | |
| Patient-Centered Outcomes Research Institute (PCORI) Training: A Program for Rare Disease Patient Advocates; https://www.pcori.org/research-results/2015/pcor-training-program-rare-disease-patient-advocates | Tools and templates on the subject of "patient and research" | |
| Findacure's e-learning resources on rare diseases; https://portal.findacure.org.uk/ | The portal is aimed at rare disease advocates, patient groups and charities, it shares ‘how to’ and best practice on a range of topics-from building the team to running patient registries-to encourage efficient and sustainable growth of patient groups | |
|
FutureLearn courses on genomicsa: The Genomics Era: the Future of Genetics in Medicine https://www.futurelearn.com/courses/the-genomics-era; Whole Genome Sequencing: Decoding the Language of Life and Health; https://www.futurelearn.com/courses/whole-genome-sequencing; Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing; https://www.futurelearn.com/courses/next-generation-sequencing; Genomic Technologies in Clinical Diagnostics: Molecular Techniques; https://www.futurelearn.com/courses/molecular-techniques |
Courses on genomic technologies, whole genome sequencing | |
|
Genetics education for primary care resources from the Gen-Equip projecta |
Genetics education for continuing medical or professional education in genetics (general practitioners, primary care pediatricians, midwives, and primary care nurses) | |
| Medics4RareDiseases (M4RD) video library; https://www.m4rd.org/video-library/ | e-learning for medical students and doctors about the fundamentals of rare diseases | |
| Program on rare diseases “Excellence In pediatrics”; https://www.ineip.org/p2p_education_program_on_rare_diseases_excellence_in_pediatrics | Peer-to-Peer Education Program on Rare Diseases including Live Lectures, Enduring Online Content & Community-Based Education | |
| Recordati rare diseases; https://www.rrd-foundation.org/en/courses | Courses and webinars on clinical trials and rare diseases (mostly inherited metabolic diseases) | |
| Aarhus University, Rare Diseases in Translational and Personalized Medicine; https://kursuskatalog.au.dk/en/course/105020/Rare-Diseases-in-Translational-and-Personalized-Medicine | MsC course on rare diseases, translational and personalized medicine | |
| Wellcome Advanced Courses and Scientific Conferences-Genomics of Rare Disease; https://genetics.org.uk/events/wellcome-advanced-courses-and-scientific-conferences-genomics-of-rare-disease/ | Courses on rare diseases, genomics, undiagnosed diseases | |
| Queen’s University Belfast; https://www.qub.ac.uk/sites/RareDisease/Events/ | Courses, seminars and webinars on rare diseases | |
aResources that are not specific for rare diseases but include important aspects on rare diseases
bSome of these resources may have limited duration or accessibility