Building the Future of Rare Disease Research

Building the Future of Rare Disease Research

A disease is considered rare when it affects fewer than 1 in 2,000 people. Typically such diseases are biochemical or genetic in nature. For many of the 7,000 known rare diseases, there are no treatments.

Despite the low incidence, collectively rare diseases are the most common reason for admission to pediatric hospitals, accounting for about 80% of admissions. The key components required for the development of effective disease treatments are precise diagnosis and a thorough understanding of the cellular and physiologic basis of disease. As such, fundamental research is vitally important for providing physicians with tools to manage and develop therapies for rare diseases.

Investment in rare disease research is a powerful catalyst for change that can ensure future generations benefit from better testing and treatment. For scientists who have already committed their skills and expertise to rare diseases, there is an urgent need for funding to support early-stage research.


About This Project

UBC has a proud history of leadership in rare disease gene discovery and the translation of genetic insights into tangible benefits for patients. The first ever gene therapy approved for clinical use in the Western world was developed at UBC. UBC ran one of the largest trial sites for the MPS I enzyme replacement therapy trial that resulted in the licensing and approval of Laronidase for the treatment of MPS I. In 2015, the first human clinical trial of a new gene therapy for Huntington’s started at UBC; this is expected to be the first successful genetic therapy for Huntington’s. These important advancements and initiatives were only possible because talented, dedicated scientists had the skills and resources they needed to pursue new knowledge disease research.

Your gift will support pilot studies of rare diseases and help ensure that promising early-stage research with the potential to inform diagnosis or treatment of rare disease proceeds without delay.

Project Contacts

  • Kaman Ng
  • Sr. Associate Director, Medicine
  • Tel: 604.822.8079
  • kaman.ng@ubc.ca
  •  

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