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<p>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.</p><p>
</p><p>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.</p><p>
</p><p>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.</p><p> </p><p>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.</p><p>
</p><p>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.</p>
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