Orphanet is a European website that provides an inventory and classification of rare diseases (RDs), with each entry having its own ORPHA code, an encyclopaedia of expert-authored and peer-reviewed review articles, various clinical guidelines, diagnostic criteria, guidance for genetic testing, disability factsheets etc., and a directory of services (clinics, laboratories, research projects, registries, clinical trials, patient organisations).
ITHACA is a partner of ORPHANET to support RD encyclopaedia and to enrich its entries regarding disorders covered by ITHACA : 72 summaries have been reviewed and updated so far.
GeneReviews is an international point-of-care resource consisting in an online database containing standardized peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as GeneClinics by Roberta A Pagon (University of Washington) with funding from the National Institutes of Health. Its focus is primarily on single-gene disorders, providing current disorder-specific information on diagnosis, management, and genetic counseling. Links to disease-specific and/or general consumer resources are included in each article when available. The database is published on the National Center for Biotechnology Information (NCBI) Bookshelf site. Each chapter is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online. Articles are updated every two or three years or as needed, and revised whenever significant changes in clinically relevant information occur. Articles are searchable by author, title, gene, and name of disease or protein, and are available free of charge.
Genereviews provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counselling for patients and their families. GeneReviews currently comprises almost 800 chapters, that follow two general formats
- chapters focused on a single gene or phenotype
- overviews summarizing genetic causes of common conditions
French National Diagnostic and Care Protocols (NDCPs)
National Diagnostic and Care Protocols (in French : protocole national de diagnostic et de soins or PNDS ) are good practice guidelines for rare diseases. The objective of a PNDS is to explain to the professionals concerned the optimal diagnostic and therapeutic management and care path of a patient suffering from a given rare disease. These protocols are one of the endeavours within the Rare Disease Plan set up in France in 2005. The Protocols are presented according to a predefined framework, comprising in order at least the following parts
- the summary for the attending physician (1 to 2 pages): summary of the disease and its diagnostic and therapeutic management, clinical signs to evoke the diagnosis, the place of the GP in the management, “what to do and not to do”, useful contacts, (Internet addresses of the referral centre(s), patient support group(s), Orphanet page, etc.)
- A main document (10 to 20 pages)
- An introduction: information on the disease (definition, etiology, incidence, prevalence data, etc.); description of the different stages of management, specifying for each stage the objectives, the professionals involved, the methods of coordination between these professionals
- Management: diagnostic step and initial assessment: elements leading to suspicion of the diagnosis, confirmation of the diagnosis, assessment of the severity of the disease, search for co-morbidities, assessment of prognosis, genetic counselling, etc
- Therapeutic management stage (medical and paramedical)
- Follow-up and management of complications
- Ff available, decision trees for biological/genetic diagnosis (insertion of trees themselves or the Internet link).
Pdfs of the Protocol are downloadable on the web site of the the High Health Authority
|One of the/The author(s) of this publication are (a) member(s) of the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516].”|
|This work has been generated within the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]|
|This study/project/publication/Guidelines/survey* has been supported by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). ERN-ITHACA is partly co-funded by the European Union [EU Framework Partnership Agreement ID: 3HP-HP-FPA ERN-01-2016/739516]
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|If funding is allocated to a publication/ project. This will eventually apply but it is not yet the case for the moment.|
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