P262: Capturing the lived experiences, needs, and stories (LENS) of the Shwachman-Diamond syndrome community: Insights to inform clinical care and advocacy
Abstract
Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive condition characterized by bone marrow dysfunction, skeletal abnormalities, and pancreatic insufficiency. Compared to other inherited bone marrow failure syndromes, there is a gap in qualitative research highlighting SDS patient perspectives. Understanding the lived experiences of individuals with SDS and their caregivers is critical for addressing their unmet needs, guiding future research and drug development, and improving clinical care and quality of life.
Fields of Study & Subjects
Blood disorders and treatments
Immunodeficiency and Autoimmune Disorders
Genomics and Rare Diseases
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103756–103756
- Publication date
- 1 January 2026
- Language
- EN