About Care4Rare

Why Rare Diseases?

There are approximately 7,000 rare genetic diseases that impact 3,000,000+ Canadians and their families. 

  • 66% of these diseases cause significant disability

  • 75% affect kids (900,000+ children with rare diseases in Canada)

  • 50% lead to early death

  • almost all have no targeted treatment

More than 1/3 of these diseases remain unsolved, meaning that their genetic cause is unknown.

On top of the health implications of having a rare disease, thousands of Canadian patients spend years being redirected to different specialists trying to get answers as to why they have the symptoms they do, in an attempt to get a diagnosis. This is known as the “diagnostic odyssey”.

Care4Rare aims to make improvements in clinical genetics to allow patients without answers to receive a diagnosis much faster. This ultimately allows patients to better know what to expect, receive tailored clinical care for their rare disease, and connect to others with the same diagnosis.

History

2011 to 2013 - FORGE

Care4Rare Canada was formed under the project name FORGE (Finding of Rare Disease Genes in Canada) in 2011. It was jointly funded by Genome Canada and the Canadian Institutes of Health Research.

FORGE’s vision was to create a Canadian network of doctors and scientists to use Next Generation Sequencing to identify as many rare disease-causing genes as possible, to help give undiagnosed rare disease patients answers.

The project was highly successful, and studied 264 rare diseases, solved 146 rare diseases, and identified 67 novel genes.

2013 to 2018 - CARE4RARE

In 2013, Care4Rare (C4R) was announced as a follow up project to FORGE. Care4Rare would build upon FORGE’s infrastructure and discoveries. It would also continue to identify novel genes and disorders, to help translate new technologies such as genome-wide sequencing into clinical care, and to reduce the burden of the diagnostic odyssey.

Care4Rare studied 766 rare diseases, solved 322 rare diseases, and identified 127 novel genes.

2018 to present - CARE4RARE-SOLVE and genomics4rd

Today, 200 physicians and 100 scientists work together to advance rare disease research through the program’s newest iteration as Care4Rare SOLVE (C4R-SOLVE).

C4R-SOLVE expands on the work of FORGE and C4R and aims to optimize the delivery of clinical genome-wide sequencing in provincial health care systems, while using multi-omic approaches, global data-sharing and new bioinformatics to find diagnoses for the hardest to diagnose patients.

The SOLVE program also developed Genomics4RD which is the first pan-Canadian rare disease data repository and analysis platform. Genomics4RD facilitates precision medicine, harmonizes data collection and fosters data sharing and matchmaking on an international scale.

Our Philosophy, Mission, Vision, and Goals

Our philosophy is to collaborate with your friends, share generously, and partner with the rare disease community.

Our mission is to create the infrastructure to support rapid diagnosis of genetic diseases, through an international collaborative network where stakeholders can share data, and collaborate on novel gene discovery and research for the benefit of Canadian rare disease patients.

Our vision is to create the infrastructure to support rapid diagnosis of genetic diseases and to create an international collaborative network through which Canadian stakeholders can share data, and collaborate on novel gene discovery and research for the benefit of Canadian patients.

Our Goals are to:

  • Reduce the length of the diagnostic odyssey for rare genetic disease patients

  • Create bioinformatics infrastructure to support Canadian data sharing capacity in a global setting

  • Integrate new sequencing technologies into clinical care

  • Train and educate the next generation of rare genetic disease researchers

 Sites Across Canada

  • University Health Network

  • Mount Sinai Hospital

  • Winnipeg Health Region 

  • IWK Health Centre

  • Thunder Bay Regional Health Centre

  • Stollery Children’s Hospital

  • Lakeridge Health

  • Saskatchewan Health Authority

  • Montreal Children’s Hospital

  • McGill University

  • CHEO

  • SickKids Hospital

  • University of British Columbia

  • University of Calgary

  • Hamilton Health Sciences

  • North York General

  • The Ottawa Hospital

  • Kingston Health Science Centre

  • Health Science North

  • London Health Sciences Centre