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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

Thousands receive diagnosis after 60 new diseases found

Study analysed the DNA of families with unexplained, severe development disorders.

United kingdomUnited statesCarl brogdenDasha brogdenCaroline wrightJessica fisherJames gallagherSanger instituteUniversity of exeterDeciphering 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

Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland

Researchers performed a large-scale sequencing study using data gathered over a decade from a previous study.

United kingdomNew england journalDeciphering developmental disordersGenomic diagnosisRare pediatric diseaseImage creditExome sequencing

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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