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We invite clinicians, scientists and others with interests in research, care and treatment of individuals with Shwachman-Diamond syndrome and other ribosomal insufficiency diseases to attend.

The congress will include multiple medical and scientific disciplines. Our goals are to facilitate international exchange and to encourage cooperation in research investigations for Shwachman-Diamond syndrome and related ribosomal insufficiency diseases.


Shwachman-Diamond syndrome is a rare genetic disorder involving multiple organ systems that leads to digestive problems, learning challenges and blood abnormalities with susceptibility to life threatening infections and leukemia. Recent studies have highlighted that the underlying mechanism of disease pathology hinges on ribosomal insufficiency.

Conference Objectives

  1. Bring together clinical leaders involved with Shwachman-Diamond syndrome (SDS) patient care with clinical and basic research investigators to educate and facilitate exchange of information,
  2. Encourage new areas of research that reflect our recent understanding of SDS as a ribosomopathy,
  3. Encourage understanding of the role of SBDS in organogenesis (liver, pancreas, skeleton, brain and other organs), hematopoiesis and cancer predisposition,
  4. Improve understanding of SDS with respect to 1) the pathobiology of the affected organs, 2) the clinical manifestations and their variability, and 3) treatment modalities for each component, while retaining context of the entire syndrome and its complexities,
  5. Strengthen relationships with clinicians, researchers and family foundations for continued benefits to SDS patients with respect to 1) optimal and evidence-based care, 2) family support structures and communities, 2) educational issues, 3) input into research objectives and priorities and 4) efficient and incremental use of research funding.

Conference Learning Objectives

  1. Recognize presentation and natural history features of SDS
  2. Describe basic organ failures in SDS
  3. Develop monitoring regimens for optimal well being of SDS patients
  4. Acknowledge ongoing research needs and opportunities for understanding of SDS for optimization of intervention strategies

SDS101: Fundamentals of Shwachman-Diamond syndrome Sunday November 3rd

The first session of the Congress will be presented by four attending faculty members and will provide a broad background on SDS. They will describe and discuss 1) the genetics of SDS and how the disease is diagnosed, 2) the growth and pancreatic issues in SDS, 3) the hematological and bone marrow issues in SDS, 4) the skeletal issues in SDS, and 4) the neurodevelopmental aspects of SDS as they are currently understood.

Continuing Education and Professional Development
Faculty of Medicine, University of Toronto
500 University Avenue, Suite 650 Toronto, Ontario, M5G 1V7
Tel: 416.978.2719 / Toll free: 1.888.512.8173