A rare disease is a condition that affects less than five in 10,000 of the general population.
Individually rare diseases are ‘rare’ but collectively are common. There are 6,000 to 8,000 recognised rare diseases and 1 in 17 people will be affected by a rare disease (approximately 3.5 million people in the UK) of which 75% affect children.
Sadly, 30% of rare disease patients will die before their fifth birthday.
The Rare Diseases theme has the following focus:
Improve the speed and accuracy of diagnosis.
Improve co-ordination of care for children and young people managed by multiple specialities.
Develop effective emergency care plans for children and young people with rare diseases.
Improve information exchange with families.
DR LARISSA KERECUK
Dr Larissa Kerecuk is a Consultant Paediatric Nephrologist and Rare Diseases lead at Birmingham Children’s Hospital (BCH). The world’s first Paediatric Rare Disease Clinical Centre opened at BCH in 2017.
Larissa is also the NIHR Specialty Lead for the West Midlands Clinical Research Network and Lead for 100,000 Genome Project at BCH and a member of the Management Committee of Rare Disease UK.
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