SDS Registry

• Research type

  Research Study

• Full title

  Shwachman-Diamond Syndrome (SDS) Registry

• IRAS ID

  287120

• Contact name

  Alan J Warren

• Contact email

  ajw1000@cam.ac.uk

• Sponsor organisation

  Cambridge University Hospital NS Foundation Trust and the University of Cambridge

• Duration of Study in the UK

  4 years, 11 months, 30 days

• Research summary

  The inherited disorder Shwachman-Diamond syndrome (SDS) substantially increases the risk of blood cancers in children and young adults. SDS is caused by defective assembly of the machines (ribosomes) that make all the proteins in our cells. We will collect samples and data from patients with SDS and their relatives. We will then use our expertise in innovative microscopy methods to directly visualise aberrant ribosome assembly states in SDS patient cells. In parallel, we will use new technologies to read the genetic signatures arising in single SDS blood cancer stem cells. Our work will enhance understanding of cancer progression, provide new diagnostic biomarkers and generate key templates to assist drug design.

• REC name

  North East - Newcastle & North Tyneside 1 Research Ethics Committee

• REC reference

  24/NE/0087

• Date of REC Opinion

  24 May 2024

• REC opinion

  Unfavourable Opinion