Dr. Akiko Shimamura is investigating the function of the SBDS gene to understand how this gene contributes to marrow failure and leukemia with the goal of developing better treatments.
With genetic testing now in use, a full clinical spectrum of SDS is expected in the future. Since some patients lack the SBDS gene mutations, more research is required to learn if other genes are also responsible for this syndrome. Further studies into the syndromes’ molecular pathways will help find new ways to treat the disorder and prevent bone marrow failure and development of leukemia.
The new North American Shwachman-Diamond Syndrome Registry is based here at Fred Hutchinson Cancer Research Center. Patients may contact the registry directly to receive the enrollment packets and questionnaires. For more information or to join the registry, contact the Shwachman-Diamond Syndrome Registry Coordinator, Melissa Alvendia, at (206) 667-6965 or (866) 792-5876 or firstname.lastname@example.org