Published References

Myers K, Bolyard AA, Otto B, Dobbins N, Jones A, Wong T, Harris R, Davies S, Dale D, and Shimamura A. Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman Diamond Syndrome Registry. J Pediatr 2014 Apr;164(4):866-70

Who should be Tested for SDS?
A recent study through the North-American Shwachman-Diamond Syndrome Registry reports that as many as half of patients with SDS may initially lack the classic symptoms of neutropenia, diarrhea or poor growth/failure to thrive.  Siblings of patients with Shwachman-Diamond syndrome may have SDS even if they lack apparent symptoms,.Genetic testing of siblings in families of patients with Shwachman-Diamond syndrome is therefore essential regardless of symptoms.  Timely diagnosis prior to the development of complications is critical for the best medical management and outcomes, particularly in the case of bone marrow failure, leukemia, or bone marrow transplantation.  Diagnostic screening is especially important to ensure that affected siblings are not inadvertently selected as donors for bone marrow transplantation.

Ryan TD1, Jefferies JL, Chin C, Sticka JJ, Taylor MD, Harris R, Moore J, Goodridge E, Mount L, Bolyard AA, Otto B, Jones A, Shimamura A, Davies S, Myers K. Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction. Pediatr Blood Cancer. 2015 Mar 2. doi: 10.1002/pbc.25456.

Heart Health In SDS
Using a new method of looking at heart function called “cardiac strain” to re-evaluate echocardiograms previously reported as normal, approximately one third of patients with Shwachman-Diamond syndrome were found to have changes in heart function not detected on standard testing, which may put them at risk for future problems with heart function.  Cardiac evaluation should be considered in patients with SDS, regardless of whether they will undergo HSCT. Further studies are needed to better understand the incidence of cardiac dysfunction in SDS, and the potential risk of progression to symptomatic heart failure with medical interventions and age.

Ongoing Research

Our research priorities include:

  • Testing new medicines for SDS
  • Drug screens to discover new therapeutic strategies
  • Gene discovery for diagnosis and therapy
  • Collaborative studies across institutions
  • Identifying the complications of SDS and their treatments
  • Curing SDS

Gene discovery: While mutations in the SBDS gene are found in the majority of SDS patients, a subset of patients remain as yet genetically undefined. The Registry is hard at work to identify additional genes that cause SDS, but we need additional families, clinical records, and samples to succeed. 


MDS and Leukemia in SDS: MDS and leukemia remain major life-threatening complications of SDS. Effective strategies to prevent and treatment leukemia in SDS are lacking.  The Registry is initiating several studies to examine the development of myelodysplasia and leukemia in patients with SDS as well as their responses to treatments and bone marrow transplant.  These important data will improve our understanding of leukemia in SDS to guide decisions regarding screening strategies for early detection as well as to inform therapy choices.

Medical Monitoring:  The SDSR is exploring the development of innovative blood tests to identify patients at high risk of blood complications such as aplastic anemia, MDS or leukemia.  This may reduce the number of patients requiring regular bone marrow exams.

Adults with SDS: The Registry is evaluating the clinical manifestations of adults with SDS in order to improve clinical care for our adult patients.

Gene therapy for SDS:  The Registry is critical to efforts to develop gene therapy for SDS.  Gene therapy involves fixing the SDS gene in the patient’s own cells.