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Rare Disease Specialist
Diagnoses and treats conditions affecting fewer than 1 in 2,000 people
£55k–£110k Bioscience boom
What it involves
Navigates the complex diagnostic odyssey for rare disease patients — coordinating genetic testing, multidisciplinary teams and compassionate use programmes where no licensed treatment exists.
Skills & knowledge needed
Clinical geneticsMultidisciplinary coordinationPatient advocacyRare disease databasesClinical trials
Why it's emerging now
Genetic sequencing is enabling diagnosis of previously undiagnosed rare conditions — specialists are needed to act on results.
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