A great deal of indirect evidence suggested that the SBDS protein may be involved in an aspect of cellular RNA metabolism or ribosome assembly or function.

The wide occurrence of the gene in all archaea and eukaryotes supported a role for this protein in a very fundamental and evolutionarily conserved aspect of cellular biology.

In line with this, the yeast homologue, SdoI, has been shown to be critical for maturation of pre-60S ribosomes, by effecting release and recycling of the nucleolar shuttling factor Tif6.

It has also been shown that the Dictyostelium discoideum homologue catalyzes the removal of eukaryotic initiation factor 6 (eIF6), which is required for the translational activation of ribosomes.

However, unusual and combinations of tissues and organs are also affected in Diamond–Blackfan anemia, X-linked dyskeratosis congenita, and cartilage–hair hypoplasia—three diseases that may also be linked to defective ribosome function.

Pleiotropic disease features may be the result of cell-specific effects of reduced levels of SBDS activity provided by hypomorphic mutations.

However, CF can be excluded with a normal chloride in sweat test but faecal elastase as a marker of pancreatic function will be reduced.

Rarely, SDS may present with skeletal defects, including severe rib cage abnormalities that lead to difficulty in breathing.

However, SDS patients have an elevated occurrence of BMT-related adverse events, including graft-versus-host disease (GVHD) and toxicity relating to the pre-transplant conditioning regimen.

However, several emerging therapeutic strategies, including gene therapy and antisense oligonucleotides (ASOs), could potentially slow or prevent malignant transformation, at least in theory.

[19] The challenge is whether the SDS community can come together to support the required research,[20] and whether the organizations can successfully execute a strategy that coordinates the efforts for new therapy development.

[26] In 2003, a team of researchers led by Johanna Rommens at the Hospital of Sick Children (SickKids) in Toronto, Canada, discovered mutations in the SBDS gene (Shwachman–Bodian–Diamond syndrome) were associated with disease.