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New genetic sequencing technology is helping researchers find answers in rare pediatric disease cases

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Translational Genomics Research Institute

The study identified the probable cause of the genetic disease in six families PHOENIX AND SAN DIEGO, July 10, 2023 /PRNewswire/ — New genetic sequencing technology from Element Biosciences has helped researchers at the Translational Genomics Research Institute (TGen), part of the City of Hope, identify likely genetic causes of the disorders in six of … Read more

Facial Weakness: A Dark Matter Detective Story – Boston Children’s Answers

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A magnifying glass, decorated with DNA, showing the face of a girl with a droopy mouth due to facial weakness.

14 families with inherited facial weakness have opened a window into genetic disorders caused by inherited mutations in ‘dark matter’ genomes. (Images: Adobe Stock / Illustration: Sebastian Stanciewicz) Elizabeth Engle, MD, has dedicated her career to researching genetic and developmental causes for eye, lid, and facial movement disorders. From common conditions like strabismus to very … Read more