Our Role & Impact

Enabling the discoveries that ensure families are happy and healthy

Our Role & Impact
  1. Our Role & Impact
  2. RESEARCH PROJECTS FUNDED THROUGH HMRI
  3. Identification of better diagnostic tools and treatment regimens for children with Shwachman-Diamond Syndrome (SDS)

Identification of better diagnostic tools and treatment regimens for children with Shwachman-Diamond Syndrome (SDS)

Shwachman-Diamond Syndrome (SDS) is an inherited condition affecting bone marrow, the pancreas, skeletal system, and other organ systems. 

Children with the SBDS suffer from pancreatic insufficiency resulting in poor growth. Children with this mutation also have a 30% increased risk of developing leukemia. The aim of this project is to understand how the SBDS gene leads to pancreatic insufficiency and increased leukemia risk leading to improved diagnostic and treatment tools for this disease. 

Researchers 

Dr Matthew Dun, Dr Nikki Verrills

Research Area 
Cancer
Project type 
Project Grant
Year of funding 
2014