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Sofia Brogden News Today : Breaking News, Live Updates & Top Stories | Vimarsana

Oxfordshire toddler diagnosed with rare genetic condition

Turnpenny-Fry syndrome is caused by mutations in the PCGF2 gene.

United kingdomCaroline wrightWellcome sanger instituteUniversity of exeterSofia brogdenDeciphering developmental disordersJohn radcliffe hospitalWellcome sangerNew england journalGenomic medicine

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

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

A two-year-old girl with a severe developmental disorder is among the 5,500 people who now know the genetic cause of their condition, thanks to a major UK study.

United kingdomUnited statesCaroline wrightJessica fisherNational institute for healthWellcome sanger instituteCare researchUniversity of exeterDepartment of healthSofia brogdenDeciphering developmental disordersJohn radcliffe hospitalWellcome sangerNew england journalGenomic medicineSocial care

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