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Major study sheds light on rare genetic diseases affecting 5,500 children

The findings mean many more families could now get answers faster about their children’s conditions.

United kingdomUnited statesJessica fisherMatthew hurlesCaroline wrightRapid genome sequencing serviceUniversity of exeterWellcome sanger instituteUniversity of cambridgeGenomic medicineDeciphering developmental disordersNew england journalHonorary professorHuman geneticsGenetic disorderHuman genes

Study brings new hope for kids with developmental disorders

"The families in our study were desperate for answers."

United kingdomUnited statesCaroline wrightMark waghornMichael parkerMatthew hurlesJessica fisherHelen firthDasha brogdenOxford universityUnited kingdom national health serviceExeter universityWellcome sanger institute in cambridgeCambridge universityProfessor caroline wrightDeciphering developmental disorders

Study sheds light on causes of rare genetic diseases in 5,500 people

Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K. that will help improve diagnosis across the world.

United kingdomMatthew hurlesCaroline wrightHelen firthMichael parkerGenomic medicine serviceUniversity of cambridgeRapid genome sequencing serviceWellcome sanger instituteGenomic medicine at cambridge university hospitalsUniversity of oxfordEthox centre at oxford population healthUniversity of exeterDeciphering developmental disordersWellcome sangerNew england journal

Major study reveals genetic causes of severe developmental disorders

Genome sequencing of children with rare conditions should improve speed and accuracy of NHS diagnoses

United kingdomMatthew hurlesJessica fisherCaroline wrightWellcome sanger instituteUniversity of exeterNational institute for healthDepartment for healthCare researchUniversity of cambridgeNational instituteNew england journalSocial careWill quince

How patients received diagnoses that had eluded them for years

The study is closed to new participants. But the kind of technology that fueled its discoveries is becoming increasingly accessible.

United kingdomRyan taftMatthew hurlesCaroline wrightUniversity of exeterUk national health serviceWellcome sanger instituteUniversity of cambridgeDeciphering developmental disordersHealth serviceGenomic medicine

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