EDUCATION

DermIS.net is the largest dermatology information service available on the internet. It offers elaborate image atlases (DOIA and PeDOIA) complete with diagnoses and differential diagnoses, case reports and additional information on almost all skin diseases.

GeneCards® is an integrated database of human genes that includes automatically-mined genomic, proteomic and transcriptomic information, as well as orthologies, disease relationships, SNPs, gene expression, gene function, and service links for ordering assays and antibodies.

GeneTests Web site, a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons.

Human Gene Mutation Database represents an attempt to collate known (published) gene lesions responsible for human inherited disease. This database, whilst originally established for the study of mutational mechanisms in human genes (Cooper and Krawczak 1993), has now acquired a much broader utility in that it embodies an up-to-date and comprehensive reference source to the spectrum of inherited human gene lesions. Thus, HGMD provides information of practical diagnostic importance to (i) researchers and diagnosticians in human molecular genetics, (ii) physicians interested in a particular inherited condition in a given patient or family, and (iii) genetic counsellors.

NCBI Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information - all for the better understanding of molecular processes affecting human health and disease.

OJRD is the official journal of Orphanet, the European portal for rare diseases and orphan drugs, and provides researchers and clinicians with the opportunity to publish state of the art developments in the area of rare diseases and orphan drugs as well as to publish new syndromes and results of clinical trials including those with negative results.

ORPHANews Europe is the monthly electronic newsletter of the EC's Rare Diseases Task Force. Every month it presents news and views on rare diseases and orphan drugs in Europe: research, EU, national and international policy, disease surveillance, orphan drug approvals, funding opportunities, news from the patients associations, events...

UCSC This site contains the reference sequence and working draft assemblies for a large collection of genomes. It also provides a portal to the ENCODE project.

EU FUNDED PROJECTS

Research on rare diseases is part of the general and specific objectives of the Framework Programmes for Research and Technological CORDIS, the European Union Community Research & Development Information Service.

EU Public Health Programme 2003-2008 . According to the DG SANCO Work Plans for the implementation of the Public Health Programme, the two main lines of action are the exchange of information via existing European information networks on rare diseases, and the development of strategies and mechanisms for information exchange and co-ordination at EU level to encourage continuity of work and trans-national co-operation.

EPISTEM is an integrated project of the European Union's Sixth Framework Programme* (LSHB-CT-2005-019067). The main goal is to study the role of p63* and related pathways in epithelial stem cell proliferation and differentiation and in rare Ectrodactyly Ectodermal dysplasia (EEC*) - related syndromes. The focus of Epistem is to generate new knowledge and translate it into applications that enhance human health. To this end both fundamental and applied research will be involved.

Eurocat A European network of population-based registries for the epidemiologic surveillance of congenital anomalies, provide essential epidemiologic information on congenital anomalies in Europe provide a ready collaborative network and infrastructure for research related to the causes.

Eurogentest NoE will improve the organization and harmonization of external quality assessment/assurance schemes, facilitate the development of guidelines and support the accreditation/certification of the genetic services.

EURORDIS is an alliance of patient associations dedicated to improving the quality of life of all people living with rare diseases in Europe. As a representative of rare disease patient organisations, Eurordis has been a driving force in advocating for the adoption of the European Regulation on Orphan Drugs.

ICORD (International Conferences for Rare Diseases and Orphan Drugs) aims to improve health care and treatments, through global collaboration, for the benefit of patients with rare diseases. In the ICORD collaboration there are at present representatives of universities, patient organisations and companies as well as authorities, mainly representing Europe and the US. Our aim is to broaden the representation to involve a larger part of the global rare diseases community.

Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. ORPHANET aims to improve management and treatment of genetic, auto-immune or infectious rare diseases, rare cancers, or not yet classified rare diseases. Offers services adapted to the needs of patients and their families, health professionals and researchers, support groups and industry.

RareDiseasePlatform is a research project currently funded by the European Commission. It aims at developing information tools to address in a comprehensive and integrated approach the set of factors that currently affects research on rare diseases and its coordination.

Pachyonychia Congenita (PC) Project (www.pachyonychia.org) provides this website as a tool for PC patients, their family members and friends, as well as for physicians, clinical researchers, other medical professionals and school staff. In addition, PC Project provides research funding, hosts symposiums, sponsors a PC registry, fosters a PC community including annual patient meetings, supports genetic testing and takes all other active steps toward successfully developing and delivering therapeutics to PC patients worldwide

SCIENTIFIC SOCIETIES

EADV Dermatology is an organ specialty that involves the diagnosis, treatment (both medical and surgical) and prevention of diseases of the skin and subcutis, mucosae, cutaneous appendages as well as skin manifestations of systemic disease and systemic manifestations of skin diseases.

EDF Seven academic dermatologists, all heads of university departments, formed the European Dermatology Forum (EDF) in 1997 as a non-profit professional organisation dedicated to improving the healthcare needs of dermatology patients in Europe. At its inception the EDF published a document setting out its mission and this continues to remain at the core of its activities.

ESDR contributes towards improving the health of patients suffering from skin and venereal disease. Applications of recent scientific advances have produced diagnostic and therapeutic innovations in dermatological practice, particularly in genetics, skin cancer, allergic skin disease, infectious disease and autoimmune diseases

ESHG is an international professional society founded in 1967 which 1) promotes research in basic and applied human and medical genetics, and 2) facilitates contact between all persons who share these aims. Our members (researchers, clinicians, laboratory scientists, psychologists and other social scientists, bioethicists, non-medical genetic counsellors) are involved in all disciplines of human genetics.

ILDS is a non governmental organization in official relation with the World Health Organization. It was formed to: Stimulate the cooperation of societies of dermatology and societies interested in all fields of cutaneous medicine and biology throughout the world; Encourage the worldwide advancement of dermatological education, care, and sciences; Promote personal and professional relations among the dermatologists of the world; Represent dermatology in commisions and international health organizations; and, Organize a World Congress of Dermatology every five 5 years and to sponsor additional international educational and scientific activities.

OTHERS

DebRA One of the main functions of DebRA International is to develop treatments for EB by coordinating the research programmes of the member groups and by facilitating close collaboration with the principal EB research teams. The main focuses of current research are gene therapy, cancer in EB.

The Epidermolysis bullosa network is concerned with the cause, diagnosis, prophylaxis and treatment of Epidermolysis bullosa (EB). EB is a group of inherited skin disorders, which are characterized by the formation of trauma-induced blisters of the skin and mucous membranes.

www.ESDN.org, an integrated research and diagnostic network of European Centres of Excellence, was established in January 2002. The twin objectives of ESDN are to understand what cellular, molecular and genetic factors cause these bone diseases and to develop effective approaches for their diagnosis.

This website is maintained by the German "network for ichthyosis", NIRK, and provides a description on different types of ichthyoses, a clinical questionary, links to diagnostic centres in Germany and useful Technical information for therapeutists and physicians. Moreover, this network is closely linked to the German self-support group Ichthyosis e. V.

National Foundation for Ectodermal Dysplasias is to enrich the lives of individuals affected by all forms of the ectodermal dysplasia syndromes. Its mission is accomplished in many ways. By offering accurate information and education to both lay and professional communities, providing services that meet the physical, emotional, informational and social needs of affected individuals and their families, and that help them lead a more normal life and supporting research on the ectodermal dysplasia syndromes, the Foundation continues to be an important resource for individuals and families affected by ED.