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The Independent UK
The Independent UK
National
Nilima Marshall

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.

Sofia Brogden was recruited to the Deciphering Developmental Disorders (DDD) study and received a diagnosis when she was just one month old, while still in neonatal care.

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