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Thousands receive diagnosis after 60 new diseases found

Individually the disorders are rare, but collectively they affect one in every 17 people in the UK.

United kingdomUnited statesCaroline wrightDasha brogdenJessica fisherSanger instituteUniversity of exeterDeciphering developmental disordersNew england journal

Major study helps 5,500 people receive diagnosis for rare genetic conditions

Among them is a two-year-old girl who was diagnosed with a disease that causes severe developmental disorder.

United kingdomUnited statesMungo fisherCarl dasha brogdenMungo jessica fisherOxford dasha brogdenNilima marshallJessica fisherCarl turnpennyCaroline wrightWellcome sanger instituteUniversity of exeterDepartment of healthNational institute for healthCare researchAssociation news major

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