Groups Directory

CARE for RARE (C4R) is a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists, and researchers, focused on improving the care of Rare Disease patients in Canada and around the world.  Led out of the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, Canada, Care4Rare includes 21 academic sites across the country, and is recognized internationally as a pioneer in the field of genomics and personalized medicine.

Its team uses state of the art genetic technology to identify new rare disease genes for patients. Together, 200 physicians and 100 scientists work to advance rare disease research as part of three Care4Rare programs: C4R – SOLVE, Genomics4RD, and RareConnect.

The Charité is one of the largest university hospitals in Europe. Here, 3800 doctors and scientists heal, do research and teach at the top international level.  More than half of the German Nobel Prize winners in medicine and physiology come from the Charité, among them Emil von Behring, Robert Koch and Paul Ehrlich. The Charité also has an international reputation for excellence in training. It extends over four campuses with more than 100 clinics and institutes bundled under 17 CharitéCenters.  With 13,000 employees, the Charité generates about 1.2 billion euros in sales per year and is one of the largest employers in Berlin. In 2010, the Charité could look back and joyously celebrated its 300-year anniversary.

The epilepsies are a group of disorders where individuals are prone to recurrent epileptic seizures. Rare epilepsies affect less than 5 people in 10,000 of the general population and are either defined as an epilepsy syndrome or seizures as the result of a specific cause.

Advances in brain scanning as well as genetic and metabolic investigations have determined an increasing number of causes behind epileptic seizures, resulting in the description of more than 130 rare diseases.

EpiCARE brings together 28 highly specialized health centres in 13 European countries with expertise in rare and complex epilepsies. EpiCARE offers a coordinated approach for epilepsy diagnostics and treatment by utilizing e-tools and cross-country e-consultancy, thus providing patients with the best expertise available.

Capitalizing on the large spectrum of diagnostic and treatment modalities as well as on the individual expertise of our centres in the field of rare and complex epilepsies, EpiCARE members are working together to create significant added value for patient care, research, education and training in close collaboration with patient organisations.

Mayo Clinic Translational Genomics Program

The Mayo Clinic Center for Individualized Medicine has launched a genomics research program specifically focused on improving the diagnostic yield from genetic testing. Using a variety of new analytical methods, additional forms of genetic tests, and employing a variety of laboratory-based functional studies, the Center seeks answers for patients for whom whole-exome sequencing was not sufficient to confidently return a genetic diagnosis.

Neuromics aims to revolutionize diagnostics and develop new treatments for ten major neuromuscular and neurodegenerative diseases. It will do this by bringing together leading research groups in Europe, five highly innovative SMEs and overseas experts.

RD-Connect is a unique global infrastructure project that links up databases, registries, biobanks and clinical bioinformatics data used in rare disease research into a central resource for researchers worldwide.

In a six-year project funded by the European Union but uniting researchers across the world, it will develop an integrated research platform in which complete clinical profiles are combined with -omics data and sample availability for rare disease research, in particular research funded under the International Rare Diseases Research Consortium (IRDiRC).

Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program (UDP) pursues two goals:

• To provide answers to patients with mysterious conditions that have long eluded diagnosis
• To advance medical knowledge about rare and common diseases

The program is trans-NIH in scope. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. Many medical specialties from other NIH research centers and institutes contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who participate in the program's clinical research.

Genetic Services of Western Australia (GSWA) is the sole provider of clinical genetic services in Western Australia.

http://www.udninternational.org/

The Undiagnosed Diseases Network, funded through NIH Common Fund, is designed to accelerate discovery and innovation in the way we diagnose and treat patients with previously undiagnosed diseases. The specific goals of the network are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by a large community of investigators; (2) facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures; and (3) create an integrated and collaborative community across multiple clinical sites and among laboratory and clinical investigators prepared to investigate the pathophysiology of these new and rare diseases.