Tiny Gland, Big Consequences
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Aileen and Brian Roberts' commitment to Dr. Levine’s research into the genetic causes of hypoparathyroidism in children can be life changing.
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Aileen and Brian Roberts' commitment to Dr. Levine’s research into the genetic causes of hypoparathyroidism in children can be life changing.
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Genetic counselor Emma Bedoukian, MS, LCGC, guides patient families as they uncover answers to their child's medical mystery. This is a day in her life.
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A CHOP expert in childhood hearing loss co-led a study detailing how a mutated gene disrupts normal development in the inner ear. The research may offer clues to designing future treatments.
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By identifying common gene variants that raise the risk of an aggressive form of the childhood cancer neuroblastoma, researchers may assist diagnostic efforts.
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Our newly established Roberts Individualized Medical Genetics Center can coordinate a genetic testing plan that provides patients and families accurate and comprehensive test results within a few weeks.
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Amid a cascade of DNA data, a CHOP genetics expert co-led a Think Tank that made recommendations to help families and clinicians understand and use this information.
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A puzzling multisystem disorder leads to discovery of a new genetic syndrome, and an end to families’ "diagnostic odysseys."
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An exciting new initiative at The Children's Hospital of Philadelphia is helping unlock the secrets of children’s DNA.