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Shwachman-Diamond Syndrome (SDS) is a complex and life-threatening disorder.

It is characterized by an inability to produce a sufficient number of blood cells and difficulties with digestion due to insufficiency of the pancreas, behavioral disturbances and often multi-organ system involvement with abnormalities of the bones, the liver, brains and − to a lesser extent −  the endocrine system, the immune system, liver, and the heart.

Low white blood cell counts leave these children susceptible to infection, low platelets increase the risk of bleeding, and low red cell numbers may require repeat transfusion support. SDS patients are at high risk for developing leukemia over the years. The only curative treatment for these hematological failures is a hematopoietic stem cell transplantation.

 

 

With a prevalence of 1 in every 70.000 individuals international collaboration is essential as SDS is one of the many rare disorders  in which a coordinated medical approach to the care of these patients is necessary.This meeting provides a unique forum bringing together expert clinicians and researchers from around the world and representing a broad range of different clinical and scientific disciplines to discuss pathophysiology, diagnosis, management, and treatment. The first day of the meeting (Friday, June 19) will address the genetic proceedings and biochemistry of the SBDS protein in relation to the wide range of clinical features of SDS.

The second day (Saturday, June 20) will be dedicated to the latest clinical and scientific research advances focusing on the gastrointestinal tract, metabolism and hematological problems. The agenda will include invited talks on specific subjects and forum discussions on issues brought forward by the SDS patient organizations.

Researchers and clinicians are invited  to submit abstracts to be distributed in printed form to all meeting attendees. Oral and / or poster presentations will be selected from these abstracts. Moreover, four students will be selected for a price-winning abstract. Their registration will be free. A poster session will be offered at the end of the first day of the congress.Thursday, June 18 the meeting will be officially opened with drinks at the Botanical Garden located close to the ZOO. The meeting will provide the stage for the highest quality scientific and clinical presentations. It is this combination of clinical expertise, excellent science, timely topics, and clear and engaging speakers that will pave the way for future meetings.