Proton Therapy for Craniopharyngioma
Jan 10, 2019
Proton therapy at CHOP helped Elena regain her vision and remain free of craniopharyngioma two years after treatment.
Roberts Individualized Medical Genetics Center (IMGC) News
The IMGC team is comprised of genetic specialists including attending physicians and genetic counselors who are prepared to assist families and referring clinicians before, during and after any genetic testing your child requires.
Appointments and referrals
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A Day in the Life of a Genetic Counselor
Oct 23, 2018
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.
Genetics Experts Reveal Early Events in Childhood Hearing Loss
Nov 9, 2017
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.
CHOP Scientists Identify Gene Variants that Increase Neuroblastoma Risk
Sep 26, 2017
By identifying common gene variants that raise the risk of an aggressive form of the childhood cancer neuroblastoma, researchers may assist diagnostic efforts.
How Will Genomics Enter Day-to-day Medicine?
Jun 30, 2016
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.
CHOPS Syndrome Found, Tied to Key Events in Early Development
Mar 2, 2015
A puzzling multisystem disorder leads to discovery of a new genetic syndrome, and an end to families’ "diagnostic odysseys."