One-step Gene Test for Mitochondrial Diseases
Published on in CHOP News
CHOP researchers’ new single-platform tool streamlines diagnoses of complicated multisystem disorders
Division of Human Genetics News and Updates
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Genome-Wide SNP Array Available
Published on in CHOP News
The Cytogenomics Laboratory at CHOP utilizes a genome-wide SNP array to identify genomic alterations associated with a wide variety of disorders.
Gene Therapy for Inherited Blindness Succeeds in Other Eye
Published on in CHOP News
Gene therapy for congenital blindness has taken another step forward, as researchers further improved vision in three adult patients previously treated in one eye.
Handling the Coming Flood of Personalized Genetic Data
Published on in CHOP News
The Children's Hospital of Philadelphia is part of large multicenter federal research addressing how people will handle the coming flood of personalized genetic data; it is the only facility addressing pediatric patients.
New Therapy Improves Immune Response
Published on in CHOP News
A teen with Wiskott-Aldrich syndrome, a rare inherited immune deficiency disorder, shows improvement with immunotherapy at CHOP.
Expert Launches Mitochondrial Program at CHOP
Published on in CHOP News
Douglas C. Wallace, PhD, a pioneer and internationally prominent scientist in the field of human mitochondrial genetics, joined CHOP to help establish the Center of Mitochondrial and Epigenomic Medicine.
Red Blood Cells Protected From Injury by MicroRNA
Published on in CHOP News
Researchers from The Children's Hospital of Philadelphia report that red blood cells are protected from injury from free radicals by microRNA.
Researchers Find New Chromosome Translocation
Published on in CHOP News
Genetic researchers at The Children's Hospital of Philadelphia have found a new chromosome translocation between chromosomes 8 and 22.
Schizophrenia Genes Involved in Brain Signaling
Published on in CHOP News
Deletions and repeats in DNA sequences increase the risk of schizophrenia, CHOP researchers say.
Researchers Challenge Assumptions in Interpreting Gene Studies
Published on in CHOP News
Researchers need to think outside the block in interpreting gene studies, according to a new study by The Children's Hospital of Philadelphia and others.