dREAMS

• Research type

  Research Database

• IRAS ID

  228829

• Contact name

  Amaka Offiah

• Contact email

  a.offiah@sheffield.ac.uk

• Research summary

  Dynamic Radiological Electronic Atlas of Malformation Syndromes

• REC name

  Yorkshire & The Humber - Leeds West Research Ethics Committee

• REC reference

  17/YH/0278

• Date of REC Opinion

  15 Sep 2017

• REC opinion

  Favourable Opinion

• Data collection arrangements

  Data to be stored include existing anonymised and fully annotated radiographs of fetuses, children and adults with skeletal dysplasia. In the future, data will also be collected prospectively from NHS and/or international patients. Such cases will be referred to us from relevant doctors within the NHS (including those currently being recruited to the NHS 100,000 Genomes Project). Patient name, date of birth and NHS number will NOT be stored.

  For each radiograph, only the information listed below will be stored:
  1. Unique dREAMS ID number
  2. ID number from referral source (Gorlin collection, ESDN, 100,000 Genome project etc)
  3. Patient sex if known: male; female
  4. Patient age range if known or if we can estimate from the radiograph(s) - fetus; infant; young child; older child; adolescent; adult
  5. Radiographic findings as assessed by the researchers and based on a precise ontology to be developed in an iterative process as part of the main body of work for developing the database.

  Data will relate to the radiographic features of each image and include
  A. Abnormality
  B. Anatomical site of abnormality
  C. Diagnosis
  D. Results of genetic tests (where these are known)

  To further optimise the functionality of the database, findings and diagnoses will be linked to their equivalent (where they exist) in the Human Phenotype Ontology.

• Research programme

  The database will support patients and their families with skeletal dysplasia through more prompt and rapid diagnoses and clinicians (adult and paediatric, radiology and genetics), clinical academics and laboratory scientists with an interest in skeletal dysplasias. Through clearly defined skeletal phenotypes that will allow development of objective or semi-objective radiological end-points, the database will also impact the assessment of novel therapeutic agents.

• Research database title

  Dynamic Radiological Electronic Atlas of Malformation Syndromes

• Establishment organisation

  Certus Technology Associates Ltd

• Establishment organisation address

  9 Abbey Road

  Exeter

  EX4 7BG