On June 28-30, 2011, the New York Academy of Sciences will bring together scientists and clinicians from a wide range of subspecialties, in addition to patients and caregivers, to discuss the most important recent advances in our understanding of the clinical features, management, and treatment of Shwachman-Diamond Syndrome (SDS)--a rare disorder involving multiple organ systems and affecting children and young adults.
The clinical features characterizing SDS include the inability to properly digest food due to a lack of digestive enzymes made by the pancreas, neurocognitive dysfunction, bone marrow failure, and a predisposition to leukemia. The syndrome is most commonly caused by a mutation in the SBDS gene, however, the specific function of the SBDS protein remains unclear.
This two-and-a-half day conference titled "Sixth International Congress on Shwachman-Diamond Syndrome" will also include lectures from international experts who have made great strides in understanding how mutations in the SBDS gene cause disease.
In a recent issue of Genes & Development, an international research team led by Dr. Alan J. Warren and colleagues from the University of Cambridge and also composed of investigators and physicians from the University of Vigo in Spain, the University of Toronto, and Trousseu Hospital and Université Pierre et Marie Curie in Paris, present a report establishing the mechanism by which the SBDS protein functions in ribosome synthesis, the cellular process that manufactures proteins. "This knowledge represents an important step in ongoing efforts to equate clinical features of SDS with cellular processes affected by loss-of-function mutations in SBDS," writes Drs. Arlen W. Johnson (University of Texas at Austin) and Steve R. Ellis (University of Louisville) in the accompanying Perspective. Dr. Warren will present this new data at the Academy's June 28-30 conference. "These results...do not settle the question of whether the defect in ribosome synthesis is responsible for some or all of the clinical features of SDS," caution Johnson and Ellis. Additional presentations throughout the conference will continue to provide insight into this fascinating protein and help to further our understanding of why SDS predisposes some individuals with the syndrome, but not all, to develop leukemia.
The conference will also feature the 22nd Annual Jason Bennette Memorial Lecture, given by Dr. David T. Scadden of Harvard University. Jason Bennette was a small boy who succumbed to Shwachman-Diamond syndrome. The memorial lecture in his name is sponsored by the Bennette Family and Friends and the Division of Hematology/Oncology of the Steven and Alexandra Cohen Children's Medical Center of New York.
Join the Academy for this special discussion of current challenges and potential solutions for improving diagnosis, treatment, and management of SDS. To see the full agenda and list of esteemed speakers, visit www.nyas.org/SDS. Register today.
WHAT: The Sixth International Congress on Shwachman-Diamond Syndrome
June 28 - 30, 2011
Dr. David T. Scadden, Harvard University
(Bennette Memorial Lecture keynote)
Various international experts on SDS, patients and caregivers--for a complete agenda and list of speakers, visit the event web site
The New York Academy of Sciences
7 World Trade Center
250 Greenwich St. 40th Floor
New York, NY
The conference is supported by Anonymous, Aptalis Pharma, Italian Association of Shwachman Syndrome, Shwachman-Diamond America, Shwachman-Diamond Project, Shwachman-Diamond Syndrome Canada, Shwachman-Diamond Syndrome Foundation, Shwachman-Diamond Syndrome Support Holland, Steven & Alexandra Cohen Children's Medical Center of New York, The Leukemia & Lymphoma Society, and The Mushett Family Foundation.
Funding for this conference was also made possible (in part) by 1 R13 DK093328-01 from the National Institute of Diabetes and Digestive and Kidney Diseases, the National Cancer Institute, and the National Heart, Lung, and Blood Institute. The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.
The New York Academy of Sciences is an independent, not-for-profit organization committed to advancing science, technology, and society worldwide since 1817. With 25,000 members in 140 countries, NYAS is creating a global community of science for the benefit of humanity. The Academy's core mission is to advance scientific knowledge, positively impact the major global challenges of society with science-based solutions, and increase the number of scientifically informed individuals in society at large. For more information, please visit www.nyas.org.