Shwachman-Diamond syndrome

Dana-Farber/Children’s Hospital Cancer Center has a long history of research and innovation in conditions associated with bone marrow failure. In fact, Boston Children’s Hospital physicians Harry Shwachman, MD, and Louis K. Diamond, MD—the namesakes of Shwachman-Diamond syndrome—and their colleagues, Frank A. Oski, MD, and Kon’T Khaw, MD, were the first to recognize the unique features of six patients with pancreatic malabsorption and blood cytopenias whom they studied and reported on in 1964.

Today, our researchers are collecting voluntary samples of blood and bone marrow from patients with SDS and other bone marrow failure syndromes in order to better understand the genetic material and molecular aspects of these diseases, as well as clinical outcomes for patients.

Shwachman-Diamond syndrome and stem cells

George Daley, MD, PhD, director of the DF/CHCC Stem Cell Transplantation Program and an internationally recognized leader in stem cell research, has created induced pluripotent stem (iPS) cells from a patient with SDS.

These cells will provide an important model of the biology of SDS, and will also be useful in testing new therapies for the disease. Learn more.

Shwachman-Diamond syndrome registry

Our Fanconi Anemia and Bone Marrow Failure Multidisciplinary Clinic participates in a national SDS registry. To learn more or to take part, please contact us at 617-355-8246 x2 or fa-bmf@childrens.harvard.edu.