Research developments for children with very rare diseases

Categories: Research.

“Just because your condition is very rare does not mean that your needs can be ignored or side-lined” according to Alastair Kent OBE, Director of Genetic Alliance UK, Chair of Rare Disease UK

‘Very rare disease’ refers to a life threatening or chronic condition that affects 1 person in 100 000, with 50 percent of new cases found in children. Causes in children include allergies, infection, deterioration of body tissues as well as disorders that affect the foetus in the womb.

These research projects funded by the NIHR cover a broad spectrum of research areas and are aimed at providing better care for people with very rare diseases.

One study led by Ms Jayne Wilson of the Cancer Research UK Clinical Trials Unit, University of Birmingham in partnership with Birmingham Children’s Hospital NHS Foundations Trust and a national network of expert clinicians will tackle central nervous tumours in children. These tumours are a very rare disease in paediatrics and are difficult to treat. Patients are more likely to die from a CNS tumour than any other tumour found elsewhere in the child’s body.

Another study will address Juvenile Huntington’s Disease, which is a progressive disorder that begins in childhood, and causes the breakdown of brain cells in certain areas of the child’s brain. Dr Oliver Quarrell of the Sheffield Children’s NHS Foundation Trust will be conducting a study of the services for Juvenile Huntington’s Disease.

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