AHC Federation of Europe

AHC Federation of Europe serves as an umbrella for the European AHC associations and it´s main goals are to raise awareness for Alternating Hemiplegia of Childhood (AHC) and to initiate and support research on AHC in order to find an effective treatment.

Aix-Marseille University Medical School

Aix-Marseille University is in the top 3 French universities and has an internationally recognised research capability, including the activities of the Luminy Science Park and the Medical School of la Timone. Our research unit is affiliated with the Department of Medical Genetics, Timone Children’s Hospital, and maintains close relationships with many other clinical departments and laboratories of the Hospital.

AKU Society

The AKU Society is an UK-based, entrepreneurial patient organisation, supporting those diagnosed with alkaptonuria (AKU).

Alstrom Syndrome UK

Alström Syndrome UK works to Advance Diagnosis, Care, Treatment and Support for those living with Alström Syndrome in the UK and throughout Europe.

Association Française contre les Myopathies (AFM)

AFM is involved in the development of scientific tools for the study of genetic and rare diseases in general, and provides scientists with new means and knowledge to accelerate understanding of genetic diseases and open treatment avenues based on an understanding of the genes.


CARE for RARE is a four year (April 2013‐March 2017) pan‐Canadian collaborative project with the goal to expand and improve the diagnosis and treatment of rare diseases in Canada.

Centre for Biomedical Network Research on Rare Diseases

The Centre for Biomedical Network Research on Rare Diseases (CIBERER) was created in 2006 in order to act as a reference, coordinate and foster research on rare diseases in Spain.

Centre for Comparative Genomics, Murdoch University

At Murdoch University, The Centre for Comparative Genomics (CCG) is a Western Australian State Gov. Centre of Excellence. The Centre draws together biomedical and agricultural research and development, bioinformatics, comparative genomics, and high performance computing to promote shared understanding across fields of study.

Centro Nacional de Análisis Genómico

The CNAG was created in 2009 as a platform integrated in the Barcelona Science Park with the mission to carry out large scale projects in DNA sequencing and analysis in collaboration with researchers from Catalonia, Spain and from the international research community in order to ensure the competiveness of our country in the strategic area of genomics. We started operations in March 2010 with twelve last-generation sequencing systems, which has enabled the center to build a sequencing capacity of over 600 Gbases/day, the equivalent of sequencing six human genomes every 24 hours. This capacity positions the CNAG as the second largest European center in terms of sequencing capacity.

Centro Nacional de Investigaciones Oncológicas

CNIO is a public foundation belonging to the Spanish Ministry of Science and Innovation. The CNIO Structural Biology and Biocomputing Programme has contributed to the creation of bioinformatics methods in areas of genome annotation, information extraction and network analysis. These methods are in use in a number of large scale genome projects.

Charles University

UBLG is an academic and non-profit medical-genetics unit of the 2nd Faculty of Medicine, Charles University Prague. Our major objectives are comprehensive prenatal and postnatal genetic services, both at cytogenetic and molecular genetic levels, including examination of hereditary tumors. In addition, there are specialized National Centers for the diagnosis of Cystic Fibrosis, Neurogenetic Disorders and for Reproductive Genetics.

Children’s National Medical Center

Children’s National Medical Center is the care provider for children in the greater Washington Metro area, including neighboring Maryland and Virginia. The neuromuscular disease research group within the Center for Genetic Medicine Research (GenMed) encompasses most aspects of translational research.

CMT France

CMT- France is a non-profit association founded in 2008 and aims to bring people with CMT or similar neuropathies together.

Dravet Syndrome Foundation

Dravet Syndrome Foundation is a patient’s organization focused on research. Our goal is to facilitate the process to develop new treatments for Dravet Syndrome and other neurological conditions.


Euro HSP

Euro HSP is a Federation of national groups related with a Rare Disease called Hereditary Spastic Paraplegia or Strümpell-Lorrain disease.


EuroBioBank is a European network of biological banks established in 2001. The EuroBioBank Network is fully dedicated to supporting research into rare diseases by facilitating access to quality human biological resources (DNA, cells and tissues) and their associated data from patients with rare diseases.

European Bioinformatics Institute

The European Bioinformatics Institute (EBI) is a non-profit academic organisation that forms part of the European Molecular Biology Laboratory (EMBL). The major mission of the EBI is to ensure that the growing body of information from molecular biology and genome research is placed in the public domain and is accessible freely to all facets of the scientific community in ways that promote scientific progress.

EURORDIS – Rare Diseases Europe

EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 700 rare disease patient organisations from more than 60 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe. By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services. Follow @eurordis or see the EURORDIS Facebook page. For more information, visit


FINOVATIS is a French independent consulting company (SME) based in Lyon and created in 2005. FINOVATIS is specialised in the funding, management and promotion of national and international research projects and networks.

Fondation Maladies Rares

The “Fondation maladies rares” (Fondation MR) is a newly created structure endorsed by the French Ministry of Research, and set up to federate, facilitate and coordinate research on rare diseases.

Fondazione Telethon

Telethon is a non-profit organisation founded in 1990. Its mission is to advance biomedical research towards the cure for muscular dystrophy and other genetic diseases. Within Telethon, the Scientific Office is in charge of the strategic planning and portfolio management of all research initiatives, conducts peer review of all grant applications based on international best practices, and supervises funding activities.

Foundation for Research and Technology – Hellas (FORTH)

The Bioinformatics and Computational Medicine Labs of FORTH-ICS focus its R&D activities towards the development of novel ICT technologies in the wider context of personalized, predictive and preventive medicine

Garvan Institute of Medical Research

The Garvan Institute of Medical Research has pioneered insights into some of the most widespread diseases affecting our community today.

Genzyme Europe B.V.

Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years. As a Sanofi company, Genzyme benefits from the reach and resources of one of the world’s largest pharmaceutical companies. Genzyme is an Associated Partner in RD-Connect.

INSERM US14 – Orphanet

The French National Institute of Health and Medical Research (Inserm) is a public scientific and technological institute which operates under the joint authority of the French Ministry of Health and French Ministry of Research. In 1997, INSERM Unit 14 established Orphanet, the reference portal of rare diseases and orphan drugs.

Institute of Molecular Genetics and Genetic Engineering University of Belgrade (IMGGE)

The Institute of Molecular Genetics and Genetic Engineering University of Belgrade (IMGGE) is well recognized as the leader in Serbia and the Balkan region in molecular biology, molecular genetics, biomedicine, recombinant DNA technology and biotechnology.

Instituto de Salud Carlos III

The Institute of Health Carlos III (ISCIII) is the National Health Research Institute and the National Funding Agency for Health Research in Spain. The mission of the Institute of Rare Disease Research (IIER) is to guarantee quality health care and increase the knowledge on aetiology, epidemiology and natural history of rare diseases. IIER provides support and advice to policy makers in the field of rare diseases.

Interactive Biosoftware

Established in April 2007 and headquartered in Rouen, France, Interactive Biosoftware was founded by a group of medical and computer scientists focusing on practical software applications for health care and life sciences, particularly in the field of molecular biology.

Istituto Superiore di Sanità (ISS)

The Istituto Superiore di Sanità conducts scientific research in a wide variety of fields, from cutting-edge molecular and genetic research to population-based studies of risk factors for disease and disability. The Institute is also involved in several major clinical trials, which are frequently conducted in cooperation with the Scientific Institutes for Research and Care (IRCCS) network and Hospitals.

Jackson Laboratory for Genomic Medicine

The Jackson Laboratory (JAX) is an independent, nonprofit organization focusing on mammalian genetics research to advance human health with a mission to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.

Karolinska Institutet

Founded in 1810, KI is Sweden’s largest medical university. The Biobanking and Molecular Resource Infrastructure of Sweden ( is the largest investment that the Swedish Research Council has made so far within the area of medical infrastructure. strives to build a national infrastructure of biobank samples from patients and healthy volunteers.

Leiden University Medical Center

The department of Human Genetics at LUMC is a broadly oriented research department with focus on the (epi)genomic contribution to inherited and acquired diseases. There is a special focus on biosemantics, semantic web technologies and computer-assisted data interpretation and knowledge discovery.


Lysogene is a growing biopharmaceutical company developing gene therapy for rare neurodegenerative diseases. At Lysogene we believe in sharing our experience to help further research into rare diseases and so improve public health globally. We are particularly interested in the comparability and accessibility of data through RD-Connect.

Medical University of Graz

The Medical University of Graz (MUG) is associated with the University Clinics of Graz. An important asset of the MUG established in an integrated setting of clinical routine and latest medical research is its ISO-certified biobank core-facility, hosting formalin-fixed paraffin-embedded (FFPE) and more than 30,000 cryo-conserved tissue samples and 200,000 serum samples from in total 1.2 mio patients, which according to the BBMRI questionnaire is the largest collection in Europe.

National Center of Neurology & Psychiatry (NCNP)

The National Center for Neurology and Psychiatry (NCNP) was established in 1986 and is part of the National Institute of Neuroscience (NIN) based in Japan.

National DNA Bank-Carlos III. University of Salamanca

The National DNA Bank-Carlos III (BNADN) is an S&T platform of the University of Salamanca and the Ministry of Economy and Competitiveness of Spain, whose main goal is to support genetic/genomic biomedical research.

National Genetics Reference Laboratory Manchester

NGRL works in the field of bioinformatics and health informatics, at the interface of genetic and genomic healthcare and research, to support the translation of new technology and data into improved healthcare.

Newcastle University

The MRC Centre for Neuromuscular Diseases at Newcastle is a clinical and research reference centre that forms part of the Institute of Genetic Medicine, a leading research institute within Newcastle University that works together with the Newcastle hospitals. It is an internationally recognised centre of excellence for diagnosis, management and research into inherited neuromuscular diseases. As well as its clinical research activities, the centre is highly active internationally in rare disease and neuromuscular networking and healthcare policy initiatives.

Office of Population Health Genomics (OPHG)

The Office of Population Health Genomics (OPHG), established in 2001 as a multidisciplinary policy unit, with the purpose to integrate advances in genomics and new knowledge into health policy and improve community health.

Orphan Europe Recordati Group

Orphan Europe was founded in 1990 to develop and bring orphan drugs to the market for rare disorders. Orphan Europe has extensive experience around the development of clinical trials for orphan drugs and in specialist regulatory requirements.


PatientCrossroads is a leader in developing registry systems that connect rare disease patient communities with scientists studying those conditions.

PRO RETINA Deutschland e.V.

PRO RETINA Deutschland e.V. is a patient organisation for patients suffering from retinitis pigmentosa, AMD, Usher Syndrom and other retinal degenerative diseases.

Telethon Network of Genetic Biobanks

The Telethon Network of Genetic Biobanks (TNGB) is the first Italian coordinated resource of biospecimens from patients affected by genetic diseases. TNGB collects, stores and distributes high quality biological materials linked to relevant clinical and genetic data from patients affected by inherited diseases.

The Centre for Computational Medicine, Hospital for Sick Children, Toronto

PhenoTips is an open source software tool for collecting and analyzing phenotypic information for patients with genetic disorders, located in the Centre for Computational Medicine at the University of Toronto. PhenomeCentral is a repository for secure data sharing targeted to the rare disorder community, powered by PhenoTips.

UK Thalassaemia Society

The UK Thalassaemia Society is the definitive source of information, education and research for those affected by or working with thalassaemia.

Universitätsklinikum Freiburg

The University of Freiburg Medical Centre (UKL-FR) is one of the largest medical centres in Germany. In 2001, the Division of Neuropaediatrics and Muscle Disorders together with the Clinical Trials Centre of the UKL-FR established a clinical trial coordination centre for neuromuscular disorders within the German network for Muscular Dystrophies.

Universitätsklinikum Heidelberg

Heidelberg University Medical Faculty and Hospital are among the leading institutions for clinical and translational research in Germany. The Center for Child and Adolescent Medicine has a strong focus on clinical and translational research in rare diseases and is part of the University’s Centre for Rare Diseases. The Paediatric Nephrology division at the Center for Child and Adolescent Medicine is one of the largest university facilities in Germany for the treatment of children with kidney disease.

Universitätsklinikum Tübingen

The Department of Medical Genetics at the University of Tübingen is a leading diagnostic and research centre with a particular focus on neurodegenerative diseases such as Parkinson’s disease, Huntington’s disease, spinocerebellar ataxia and dystonia. The centre also carries out research in the fields of mental retardation, genomics (neurogenomics, oncogenomics), transcriptomics (neurotranscriptomics, oncotranscriptomics) and epigenomics.

University Hospital of Ulm

UULM is a recently founded University of the state of Baden-Württemberg, ranks among the top ten medical faculties in the listing of life science institutions of the National German Research Council. UULM hosts the European Huntington Disease Network with the University Hospital of Ulm (UHU) acting as the legal representative of EHDN.

University Medical Center Göttingen

The Department of Medical Ethics and History of Medicine’s members are responsible for the design, development and delivery of specific educational programmes on medical ethics and history of medicine within the Faculty of Medicine of the University of Göttingen.

University Medical Center Groningen (UMCG)

The UMCG is one of the largest hospitals in the Netherlands with a staff of 10, 000 people in patient care, education & training and research, with a focus on ‘Healthy Ageing’.

University of Aveiro

The University of Aveiro (UAVR) is one of Portugal’s 14 public universities. IEETA is a research institute of UAVR that conducts multidisciplinary research in biomedical informatics. IEETA was the coordinator of TEAM-HOS (IST-11567) and INFOGENMED (IST-2001-39013) projects, and member of projects like INFOBIOMED, EU-ADR, GEN2PHEN and HOMECARE. IEETA also leads several R&D projects and technology transfer projects funded by the Portuguese Agency of Research.

University of Leicester

The Department of Genetics at the University of Leicester has a diverse research portfolio, encompassing humans, mice, fruit flies, and microbes, addressing fundamental genetic questions in evolution, disease, behaviour and development. The department also runs a Centre of Excellence for teaching and Learning (CETL) in genetics.

University of Malta

The University of Malta, founded in 1592, is the highest academic institution in Malta. It is publicly funded and is open to all those who have the requisite qualifications. The Department of Physiology and Biochemistry is responsible for courses in Medicine, Dentistry, Pharmacy and Bio-Medical Sciences. The Laboratory of Molecular Genetics and the Malta BioBank grew out of the Thalasaemia Project over the last 25 years.

University of Patras

The laboratory of Molecular Biology at the Department of Pharmacy has modern infrastructure, where several projects on genetics on human disorders, pharmacogenomics and genomics are being implemented. The laboratory has experience in managing national and international grants, particularly from the European Commission, with over 5M EUR funding.

University of Zurich

The University of Zurich (UZH) is Switzerland’s largest university. As a member of the “League of European Research Universities” (LERU), the University of Zurich belongs to Europe’s most prestigious research institutions. The University Children’s Hospital, Division of Metabolism specialises in diagnosis and management of inherited metabolism disorders.

University Paris Diderot – Paris 7

The University Paris Diderot is one of the most active multidisciplinary University in Paris. Odile BOESPFLUG-TANGUY, Professor in Medical Genetics, leads the child neurology and metabolic diseases department of the Robert Debre University Hospital. They will be particularly involved in the WP2 devoted to patient registries.

Uppsala University

The Centre for Research Ethics & Bioethics (CRB) at Uppsala University is an inter-faculty centre with 25 senior and junior researchers representing philosophy, ethics, law, medicine, psychology, social sciences and social pharmacy.

Vaincre la Mucoviscidose

Vaincre la Mucoviscidose is a patient organization for cystic fibrosis and manages the French CF Registry.