Table 2 Non-exhaustive list of on-line rare disease knowledge, education and training resources

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

OMIM^a; 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 organizations^b

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 Endocrinology^a https://www.ese-hormones.org/about-us/committees/rare-disease-committee/ and European Society of Pediatric Endocrinology^a https://www.eurospe.org/education/

Provides some education and awareness raising on rare endocrine diseases (in collaboration with Endo-ERN)

International League Against Epilepsies^a; https://www.ilae.org/education

Provides some e-learning modules on rare epilepsies

European Academy of Neurology^a; https://www.ean.org/learn/joint-webinars

Provides educational programme (developed in collaboration with ERN-RND and ERN-EuroNMD)

European Respiratory Society^a; 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 Oncology^a (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 Liver^a; https://easlcampus.eu/ern-on-demand

Provides webinars on rare liver diseases (in collaboration with ERN RARE-LIVER)

Education and training resources^b

ESHG Genetic Educational Materials and Sources^a; https://www.eurogems.org/index.html

A compendium of genetic information and resources

European School of Oncology^a; 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 Academy^a; https://www.bbmri-eric.eu/services/e-learning/

E-learning resources on biobanking

Elixir Training Platform^a; https://elixir-europe.org/platforms/training

Education and training resources on life sciences

EATRIS Transmed Academy—course on translational medicine^a; https://eatris.eu/services/education/^a

e-learning platform which hosts online courses as well as recordings of webinar series

European Patients’ Academy Webinars^a; https://www.eupati.eu/category/webinar/

12 webinars from EUPATI, for patients and advocates

European Patients’ Academy Expert Training Course^a; 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 courses^a; 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 genomics^a:

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 project^a

https://www.primarycaregenetics.org/?page_id=109&lang=en

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