Tag: CHOP

A total of 5 posts are filed under CHOP
Illumina and The Children’s Hospital of Philadelphia Work to Conquer Leukodystrophies
LeukoSEQ will study whole genome sequencing as diagnostic tool for rare disorders Next-generation sequencing (NGS) technologies have the… Continue Reading
N. Scott Adzick, MD, CHOP’s Surgeon-in-Chief, Recognized by Congenital Hyperinsulinism International (CHI)
As surgeon-in-chief at Children’s Hospital of Philadelphia (CHOP), and founder and director of the hospital’s Center for Fetal… Continue Reading
Moving a Medically Fragile Child: Severe Congenital Neutropenia
Let me talk about my son John J Merchlinsky IV. John is not your typical five year old. For one, most kids with his disease only have a life… Continue Reading
1p36 Duplication: Ten Miracle Years
My name is Leah and my son’s name is Tylor.  Tylor was born with 1p36 duplication. He is 20,000 base pairs away from any others on record… Continue Reading
Rare Disease Research at the Center for Applied Genomics at CHOP
Discovering the genetic variants that cause rare disease are essential to delivering better diagnoses, improved treatments, and preventive… Continue Reading
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