Help Support Shwachman-Diamond Syndrome Research
Research
Government funding for research has dwindled, and even more so for diseases involving smaller groups of patients. At the Shwachman-Diamond Syndrome Foundation, we therefore must rely on the generosity of our families and supporters to continue our pursuit of better treatments and an ultimate cure for Shwachman-Diamond Syndrome.
Because of the dedication of doctors and researchers, more than 500 professional research articles have been written and published since 1971. Several of these doctors, researchers, scientists, fellows, medical students from the United States and numerous other countries gather every two years at the Shwachman-Diamond Syndrome International Scientific Congress to present, discuss and disseminate the newest research concerning SDS.
Scientific Congress
Shwachman-Diamond Syndrome Foundation is an important sponsor for this meeting. Our funds help bring experts, researchers, and clinicians together to present and discuss research findings, treatment, and care of patients with SDS. Please continue to support Shwachman Diamond Syndrome Foundation so we can support the Congress and research for patients of SDS.
The Shwachman-Diamond Syndrome Scientific Congress is organized and held every 2 years by different organizing committees comprised of only doctors/scientists who have volunteered their time and efforts for this tremendous endeavor. It is funded by various grants obtained by the organizing committee and by funding from SDS patient advocacy groups like SDSF here in the US and around the world. Doctors/researchers, scientists, fellows, medical students from the United States, Japan, Germany, Holland, Britain, Finland, Canada, Argentina, Brussels, Denmark, and France, and elsewhere gather to present, discuss and disseminate the newest research concerning Shwachman-Diamond Syndrome. Representatives from the support groups from around the world are invited to attend as well.
This biannual Congress, the only multidisciplinary forum devoted specifically to SDS, explores the most important recent advances in the understanding of the clinical features, current management, and treatment of Shwachman-Diamond Syndrome, and the molecular function of SBDS in hematopoiesis, leukemogenesis, and organogenesis, via a series of plenary lectures, poster sessions, interactive panel discussions, and workshops.
Research Articles
Since 1971, there have been more than 500 published articles regarding Shwachman-Diamond Syndrome — which is very exciting! Even though we are involved with such a rare disease, there are researchers who have been working on it for a very long time! It is important to support this research community.
You may view the articles from a pre-populated article search on the PubMed website. PubMed is a part of the U.S. Library of National Medicine, National Institutes of Health. Some of the articles on the PubMed website are only an abstract; however, some have an option to view “free full-text article”.
Looking for an article on a specific topic? Email us at info@shwachman-diamond.org, and we’ll gladly help search our collection of articles.
Research Grants
With the support of our SDS families and generous supporters, Shwachman Diamond Syndrome Foundation has funded the following projects in the United States and other countries. SDS is a very rare disease, we are grateful to those researchers who are willing to give their time and expertise to help those living with SDS.
If you are a researcher interested in submitting a grant request, please email info@shwachman-diamond.org.
| Year | Principal Investigator | Project Title |
| 2023 | Akiko Shimamura, MD, PhD | Improving Surveillance for leukemia risk in SDS |
| 2022 | Professor Alan Warren | SDS Drug Discovery |
| 2020 |
Garry Tobin, MD Marc Raaijmakers, MD, PhD |
Diabetes Study |
| 2016 | Erasmus Medical Center, Netherlands | “Reconstructing” Leukemogenesis in Shwachman Diamond Syndrome |
| 2016 | Seth Corey, MD | Identification of Cooperating Genes in the Transformation of SDS to MDS/ AML in the Zebrafish Model that Phenocopies Human SDS |
| 2015 | Seth Corey, MD | Identification of Cooperating Genes in the Transformation of SDS to MDS/ AML in the Zebrafish Model that Phenocopies Human SDS |
| 2015 | Allison Bertuch, MD, PhD | Why are Shwachman-Diamond Syndrome Cells Hypersensitive to y-irradiation? |
| 2014 | Johnson Liu, MD | SBDS Gene Expression Levels and Hematopoietic Defect in Shwachman-Diamond Syndrome: Groundwork and Application for Gene Therapy |
| 2011 | Paul de Figueiredo, PhD and Akiko Shimamura, MD, PhD | Drug screen to show that HDAC (histone deacetylase) inhibitors will improve growth of Sdo1 deficient yeast cells |
| 2010 | Paul de Figueiredo, PhD and Akiko Shimamura, MD, PhD | Small molecule therapeutic approaches to SDS |
| 2008 | Fred Hutchinson Cancer Research Center | North American Shwachman-Diamond Syndrome Registry |
| 2008 |
Nicholas Trede, MD University of Utah |
Genetic analysis of Ceylon, a Zebrafish mutant with a genetically heritable SDS-like birth defect |
| 2007 |
Akiko Shimamura, MD, PhD David Pearce, MD |
The Human SDS protein, SBDS, associates with Ribosomal RNA |
| 2006 |
University of Rochester E. Nicolis, MD |
Functional characteristics of sdo1p/SBDS |
| 2006 |
University Hospital of Vernon, Verona, Italy Peter Durle, MD |
SBDS mRNA expression in peripheral blood leukocytes |
| 2006 |
Hospital for Sick Children and University of Toronto Yigal Dror, MD |
SBDS protein expression in peripheral blood leukocytes |
| 2005 | Hospital for Sick Children and University of Toronto | Identification of Genes involved in Marrow Failure and Malignant Myeloid Transformation by Gene Expression Analysis of Bone Marrows from Patients with Shwachman-Diamond syndrome and other inherited Marrow Failure Syndromes |
| 2004 |
Johnson Liu, MD Mount Sini School of Medicine |
Hematopoietic Defect in Shwachman-Diamond Syndrome Knockdown and Overexpression of SBDS. |
E-mail info@shwachman-diamond.org if interested in applying for a research grant.