Home Support services About Us Understanding SDS Research Contact Us
Participate in Research
To Help Not Only Your Child But All Patients With SDS."By sending blood, tissue, bone marrow or whatever is required by a researcher/scientist, you can help that study get closer to its goals. Please read below about the current open projects."
 
Hospital for Sick Children - Toronto, Ontario Canada
Ongoing research projects led by Peter Durie, MD, Melvin Freedman, MD and Johanna Rommens, PhD are aimed towards understanding the deficiencies in SDS. Information and patient samples are being recruited to survey and test bone marrow and exercise pancreatic dysfunction in order to achieve a better understanding of the spectrum and manifestations of the clinical symptoms in this autosomal recessive disease. Blood samples from all family members of patients are also being recruited for ongoing molecular genetic studies geared towards tracking the chromosomal defects in order to achieve improvement in diagnosis and care of patients. For further information on this research, please contact: Lynda Ellis, Research Nurse Coordinator at 416-813-5515 or E-mail: lynda.ellis@sickkids.ca

University of Texas - Medical Branch - Galveston, Texas
Patients with SDS usually have bone marrow disease that causes decreased production of blood cells (bone marrow failure). Patients usually have a low white cell count that may be followed by low blood platelets and anemia, SDS patients are at risk of developing myelodysplasia syndrome(MDS). The development of MDS signifies a change in bone marrow cells that increases the risk for developing acute leukemia. CLICK HERE FOR FULL DETAILS

RESEARCH STUDYNEEDS YOUR PARTICIPATION
Dr. Akiko Shimamura, MD, PhD., Associate Professor of Pediatrics at the University of Washington in Seattle, is investigating the molecular functions of the SBDS protein. The goal of her research is to understand the causes of bone marrow failure and leukemia in
Shwachman-Diamond Syndrome and to develop new therapies. Samples of blood and bone marrow from patients with Shwachman-Diamond Syndrome are critical for these studies. These samples may be collected when they are being drawn for clinical care. Dr. Shimamura or Dr. Trisha Wong would be happy to discuss the study further with anyone interested in sending a sample. Dr. Shimamura’s e-mail is, shima2@u.washington.ed.

Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes (IBMFS)
The National Cancer Institute Institutional Review Board has given its approval to open a study entitled "Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes." The principal investigator responsible for this study is Blanche P. Alter, MD, MPH. This study is open to patients with SDS, along with their immediate families. Individuals with one of the inherited bone marrow failure syndromes, and their parents, brothers, sisters, and children, are all invited to participate. CLICK HERE FOR FULL DETAILS

Participation in the Studies of the Molecular Mechanisms of Bone Marrow Failure
Our study is taking a comprehensive approach to the evaluation of participants, which is necessary to truly understand the genetic contribution to the development of disease.
CLICK HERE FOR FULL DETAILS
Home | Terms & Conditions | Privacy Policy | Site Map | International Support Groups