Shwachman Diamond Syndrome News and Research

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COMBINEDBrain receives grant from the Chan Zuckerberg Initiative to accelerate research for rare neurological disorders

COMBINEDBrain's Founder and Director, Dr. Terry Jo Bichell, understands the power of collaboration. In her years as a neuroscientist, advocate, and rare patient parent, she has witnessed the field of neurodevelopment transform from a broad focus on autism or intellectual disability, to an era based on rare genetic disorders.

16 May 2023

Genetic profiling of blood cells can predict response to stem cell transplant for patients with MDS

A single blood test and basic information about a patient's medical status can indicate which patients with myelodysplastic syndrome (MDS) are likely to benefit from a stem cell transplant, and the intensity of pre-transplant chemotherapy and/or radiation therapy that is likely to produce the best results, according to new research by scientists at Dana-Farber Cancer Institute and Brigham and Women's Hospital.

9 Feb 2017

Experts to focus on Shwachman-Diamond Syndrome at New York Academy of Sciences conference

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.

23 Jun 2011