Question to the Department of Health and Social Care:

To ask the Secretary of State for Health, what his policy is on (a) research into, (b) treatment of and (c) raising awareness of 22q11.2 Deletion syndrome.

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a disorder that involves many different areas of the body and the severity can vary among patients.

The National Institute for Health Research (NIHR) and Medical Research Council support research in response to proposals from the research community and welcome high quality applications for support into any aspect of human health, including 22q11.2 deletion syndrome. These proposals are subject to peer review and judged in open competition, with awards being made on the basis of the importance of the topic to patients and health and care services, value for money and scientific quality. In all disease areas, the amount of NIHR funding depends on the volume and quality of scientific activity.

A number of United Kingdom centres contribute to active research programmes such as recently published research lead by Great Ormond Street into Thymus transplantation for complete DiGeorge syndrome. NIHR also fund relevant research at Great Ormond Street Biomedical Research Centre and the Maudsley Biomedical Research Centre.

There are 32 Immunology centres accredited including a number of paediatric immunology centres, Great Ormond Street Hospital, Newcastle Children’s Hospital, Birmingham and Manchester which provide services for these patients. These services are geographically spread out to meet the access needs of patients across the UK. Conditions such as 22q deletion syndrome are also an integral part of the immunodeficiency section of the training curriculum for paediatric and adult immunologists thus ensuring that expertise is acquired by these doctors and dispersed throughout the National Health Service.

An important landmark for patients with rare diseases was the publication of the 2013 UK Strategy for Rare Diseases to address the needs of all those affected by rare diseases. A progress report on the Strategy will be published in early 2018.