Groups Directory

AnDDIrare
76 members
108 cases

Care for Rare
136 members
5 cases

CARE for RARE is a pan-Canadian collaborative team of clinicians, bioinformaticians, scientists and researchers building upon the infrastructure and discoveries of the FORGE Canada (Finding of Rare Disease Genes) project (April 2011-March 2013, Genome Canada and Canadian Institutes of Health Research), which to date has solved more than 77 disorders using this new sequencing technology. The goal of CARE for RARE is to improve clinical care for patients and families affected by rare diseases.  This will be done by expanding and improving the diagnosis and treatment of rare diseases. 

Objectives

  1. To use next-generation DNA sequencing to identify disease-causing genetic changes underlying rare genetic disorders affecting Canadian families. 
  2. To facilitate the integration of this type of testing into the clinic.
  3. To initiate a low cost and rapid computer and laboratory experiment-based exploration of therapies.  We will test drugs that are currently in clinical use and expect that our analysis will identify compounds for clinical evaluation.
  4. To promote and contribute to the agenda of rare diseases in Canada through our role in Orphanet-Canada and as a facilitator and stakeholder of a Canadian Plan for Rare Diseases. Our team will engage with Health Canada to explore the regulatory and scientific issues associated with the introduction of novel therapies for rare disorders into the clinic where insufficient patient numbers preclude a classic clinical trial approach.

Charité Universitätsmedizin Berlin
1 member
0 cases

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.


CHUGA
6 members
0 cases

IRUD
2 members
0 cases

Mayo Clinic_TGP
3 members
8 cases

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
3 members
0 cases

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.


Neuromuscular Study
3 members
0 cases

Organization for rare diseases India
3 members
0 cases

RD-Connect
1 member
0 cases

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).


Stroke Group
9 members
6 cases

Telethon Undiagnosed Diseases Program
39 members
84 cases

The NIH Undiagnosed Diseases Program (UDP)
36 members
178 cases

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.


UDN Austria
4 members
0 cases

UDN Hungary
3 members
0 cases

UDN ISS Italy
8 members
12 cases

UDN Spain
4 members
37 cases

UDN_Radboudumc
2 members
5 cases

UDP-WA
2 members
0 cases

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


Undiagnosed Disease Network International (UDNI)
19 members
0 cases

Undiagnosed Diseases Network (UDN)
63 members
0 cases

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.


Université de Sherbrooke
4 members
0 cases


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