DESCRIPTION (provided by applicant): Shwachman-Diamond Syndrome (SDS) is an autosomal recessive genetic disorder involving multiple organ systems. Clinical manifestations include exocrine pancreatic insufficiency, neurocognitive dysfunction, bone marrow failure, and leukemia predisposition. In New York City, on June 28-30, 2011, the New York Academy of Sciences will host the Six International Congress on SDS, which has been held biannually since 2001 and is the only forum that convenes clinicians and researchers involved in SDS patient care and research. Co-Chairs of the multidisciplinary scientific organizing committee of global leaders in diverse fields of research central to SDS pathology are serving as the PIs for this grant: Sridhar Mani, MD, Professor, Medicine, Oncology and Genetics, Miriam Mandel Faculty Scholar in Cancer Research, Albert Einstein College of Medicine of Yeshiva University and Johnson M. Liu, MD, Head, The Les Nelkin Memorial Pediatric Oncology Laboratory, The Feinstein Institute for Medical Research. The 2.5-day program, anticipated to attract 125-150 attendees, will be especially timely and exciting given the recent identification of the highly conserved SBDS gene mutated in this syndrome. Participants will explore recent advances, challenges, and future steps regarding: (i) the clinical features, management, and treatment of SDS, including genetic testing;and (ii) the molecular function of SBDS in hematopoiesis, leukemogenesis, and organogenesis. The meeting focus is significant from both clinical and scientific perspectives and will hopefully help overcome the critical hurdle of identifying the unknown function of the SBDS protein and its potential role in ribosome biogenesis, marrow failure, and cancer predisposition. Thematically, the study of both the gastrointestinal tract and hematopoiesis in SDS fits well with NIDDK's commitment to studying nutrition and metabolism in the gut and hematopoietic development. This conference will convene investigators across the span of medicine and health (as SDS touches on every organ system), which also fits the mission of the NCI, NHLBI, and ORDR. Lectures, workshops, interactive discussions, networking breaks, and a conference reception will: (i) provide a neutral forum for interaction among multidisciplinary participants who may not otherwise interact at a single scientific meeting;and (ii) contribute to the development of novel ideas for studying the cellular and molecular biology of inherited marrow failure syndromes. Poster sessions and travel awards will encourage participation of junior/minority investigators and trainees. We expect that the discussions originating from the conference and their open access dissemination in the Annals of the New York Academy of Sciences and an online multimedia report will ultimately foster advancement in the diagnosis, management, and treatment of SDS and related genetic disorders.
|Effective start/end date||6/1/11 → 6/30/12|
- National Institutes of Health: $11,750.00
Inborn Genetic Diseases
National Institute of Diabetes and Digestive and Kidney Diseases (U.S.)
National Heart, Lung, and Blood Institute (U.S.)
Exocrine Pancreatic Insufficiency