Database help doctors diagnose rare diseases | Action Medical Research

Database help doctors diagnose rare diseases

Back in the 1980s, diagnosing genetic diseases was difficult as it relied on the ability of doctors to recall the well over 1,000 conditions which were described in many different specialist journals. It became even more problematic when cases that were undiagnosed were not reported in medical journals and doctors failed to recognise patterns associated with specific conditions.

With funding from Action Medical Research, Dr Baraitser and Dr Winter compiled information about genetic diseases and syndromes that were known to cause birth defects and developed the Winter-Baraitser Dysmorphology Database. The aim of the database was to help doctors rapidly diagnose rare syndromes.

Today, the database (also known as the London Dysmorphology Database – LDDB) contains information on over 4,700 conditions. It helps doctors to diagnose rare diseases and is also used by clinicians to assess the important features of conditions. Dr Baraitser says that the database is still used by most genetics units throughout the world.

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