Skip to main content

and
  1. No Access

    Article

    Advancing diagnosis and research for rare genetic diseases in Indigenous peoples

    Achieving a diagnosis for Indigenous people living with a rare, often genetic, disease is crucial for equitable healthcare. The International Rare Disease Research Consortium convened a global Task Force to br...

    Gareth Baynam, Daria Julkowska, Sarah Bowdin, Azure Hermes in Nature Genetics (2024)

  2. Article

    Open Access

    Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

    Many patients with rare diseases are still lacking a timely diagnosis and approved therapies for their condition despite the tremendous efforts of the research community, biopharmaceutical, medical device indu...

    Rima Nabbout, Galliano Zanello, Dixie Baker in Orphanet Journal of Rare Diseases (2023)

  3. No Access

    Chapter

    Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

    Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on ...

    Gareth Baynam, Faye Bowman, Karla Lister in Rare Diseases Epidemiology: Update and Ove… (2017)