Coping with a Dual Diagnosis
Published on in HI Hope
Parents are usually blindsided when they find out that their child has congenital hyperinsulinism (HI), a rare genetic disorder that depresses blood sugar to dangerously low levels.
Roberts Individualized Medical Genetics Center (IMGC) News and Updates
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New Test Could Rapidly Identify Genetic Diseases in Newborns
Published on in CHOP News
CHOP was one of the first sites to assess a new form of whole genome sequencing.
Children’s Hospital of Philadelphia President and CEO Releases Special Podcast Series
Published on in CHOP News
Breaking Through with Madeline Bell’s “Pioneered at CHOP” series highlights stories about some of CHOP’s amazing breakthroughs, told by the people who made them.
The Genomics of Congenital Diaphragmatic Hernia
Published on in In Utero Insights
Learn more about Children’s Hospital of Philadelphia's efforts to define the underlying genetic etiologies of CDH to better understand why CDH occurs and how it can be more effectively treated.
CHOP Launches Kabuki Syndrome Clinic
Published on in CHOP News
The Kabuki Syndrome Clinic is one of the few of its kind in the world and offers a multidisciplinary team approach to treat patients with this rare genetic condition.
Children’s Hospital of Philadelphia Among 15 Most Innovative Children’s Hospitals, Parents Magazine Says
Published on in CHOP News
Children’s Hospital of Philadelphia was named one of the 15 most innovative children’s hospitals by Parents magazine based on the results of a comprehensive survey.
Roberts Individualized Medical Genetics Center Outlines Framework for Centralized Approach to Genetic and Genomic Testing
Published on in CHOP News
Roberts Individualized Medical Genetics Center Outlines Framework for Centralized Approach to Genetic and Genomic Testing
Three Leading Children’s Hospitals Will Expand Genomic Research Network with New NIH Grant
Published on in CHOP News
A research collaboration that shares genetic data among pediatric hospitals has received a multi-year federal grant to scale up its network, aimed at advancing precision medicine for children.
Families from across the Globe Gather for CHOPS Syndrome Symposium
Published on in CHOP News
Families from across the globe gather for a symposium about CHOPS syndrome — a rare genetic condition identified in 2015 by researchers at Children's Hospital of Philadelphia.
Proton Therapy for Craniopharyngioma
Published on in Cancer Connections
Proton therapy at CHOP helped Elena regain her vision and remain free of craniopharyngioma two years after treatment.