Rare Diseases (cross-cutting theme) headshot

Theme Lead

Professor H B Gaspar

Contact

Rare Diseases
(Cross Cutting Theme)
Institute of Child Health
30 Guilford Street
London WC1N 1EH

Rare Diseases (Cross-cutting Theme)


Rare diseases are officially categorised as conditions that affect less 1:2000 of the population but together they affect more than 1:17 of the population. ICH and GOSH have together been at the forefront of rare diseases research and clinical care.

  • For many years, through our research, we have been offering better diagnosis and groundbreaking therapies for children with these debilitating conditions.
  • At Great Ormond Street Hospital, we host more nationally commissioned services than any other NHS trust
  • Our BRC centre has a central focus on rare diseases experimental medicine and translational research

With the recent revolution in genomics and innovative stem, cell and gene therapies, and a greater interest in rare diseases, both in industry and at policy level, there is a great opportunity for us to further our ambition to improve the lives of children with rare diseases through excellence in basic and translational research. A cross cutting Rare Diseases theme at ICH will create greater visibility and emphasis on rare diseases and will enhance research activity and facilitate joint working between ICH and GOSH and external partners. Working closely with GOSHCC, we will have the opportunity to develop specific initiatives, relevant to the Programmes, which address rare diseases.

Click here for: Introductory Statement for Orphan Drug Designation

Click here for: Orphan Designation Summary

Page last modified on 02 jul 14 11:30