CHOP Experts from 22q and You Center Update Multiple Facets of the Condition in Special Issue of Journal Published on Dec 19, 2018 in CHOP News Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.
New Genetic Counseling Program Means More Growth for CHOP Team Published on Dec 12, 2018 in CHOP News The newly established Master of Science Genetic Counseling Program will further strengthen CHOP's resources.
Children’s Hospital Celebrates European Commission Approval of First-of-its-kind Gene Therapy for Blindness Published on Dec 05, 2018 in CHOP News CHOP celebrates a pivotal moment in medicine: approval by the European Commission (EC) of LUXTURNA®, the first and only gene therapy for patients with an inherited retinal disease.
CHOP Expert Featured in MetroKids Published on Nov 19, 2018 in CHOP News Erica Schindewolf, a genetic counselor in the CFDT, weighs in on what patients should know about genetic screening tests during pregnancy.
CHOP-Penn Receive 22q11.2 Society Inaugural Special Service Award Published on Nov 16, 2018 in CHOP News CHOP and Penn were honored for outstanding, long-standing, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community since 1992.
Ashkenazi Jewish Founder Mutation Identified in Leigh Syndrome Published on Nov 15, 2018 in CHOP News Decades after two brothers died from a mitochondrial disease, scientists identified the causative gene mutation and say the mutation should be added to carrier screening programs.
CHOP/Penn Team Receives $30,000 Grant Published on Nov 14, 2018 in CHOP News The funds will be used to create a program to provide dental care to children with Cornelia de Lange syndrome.
None Too Rare Published on Oct 23, 2018 in Children's View Some diseases affect only a small number of people, and yet CHOP’s commitment to researching and treating them is huge.
First Genome-wide Study of “Type 1.5 Diabetes” May Improve Diagnosis Published on Oct 18, 2018 in CHOP News A large genetic study of a puzzling type of adult-onset diabetes has found new links to the two major types of diabetes, offering insights into better diagnosis and treatment.
CHOP Highlighted in Nature Feature about DNA Sequencing Technology Published on Oct 11, 2018 in CHOP News CHOP researchers were profiled in a special technology feature for Nature about the field of DNA and whole-genome sequencing.