Linden teen's rare disease push leads to federal awareness day resolution

Reps. Tom Kean Jr. and Josh Gottheimer introduced a resolution naming Nov. 7 as SDS Awareness Day.
Nature

Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome

The Nature Index 2025 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...
Nature

Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series

The Nature Index 2025 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...
BioWorld

Zebrafish lacking Dnajc21 show cytopenia and impaired nucleotide metabolism

Shwachman-Diamond syndrome is an inherited bone marrow failure syndrome characterized by exocrine pancreatic insufficiency, cytopenia, growth restriction and skeletal abnormalities, and for which ...