CHOP Researchers Assess Effectiveness of Telemedicine for Pediatric Patients with Genetic Conditions
Published on in CHOP News
While diagnostic rates were similar, challenges related to sample collection and overcoming barriers to care persist.
Division of Human Genetics News and Updates
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Clinical Geneticist Elaine Zackai Receives Lifetime Achievement Award
Published on in CHOP News
She was selected as the 2022 recipient of the ACMG Foundation for Genetic and Genomic Medicine's David L. Rimoin Lifetime Achievement Award in Medical Genetics.
CHOP Researchers Develop New Clinical Diagnostic Test to Identify Genetic Sources of Mitochondrial Disease
Published on in CHOP News
New test analyzes mitochondrial DNA to find and quantify certain variations and deletions, providing a useful diagnostic tool that helps guide treatment.
CHOP Researchers Find Possible Increased Tumor Risk in Some Patients with Beckwith-Wiedemann Spectrum
Published on in CHOP News
Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder.
CHOP Researchers Publish Most Comprehensive Clinical Description of WAGR Syndrome to Date
Published on in CHOP News
New research has identified several new clinical considerations and provides guidance for proper diagnosis and management of very rare disease.
Unexplained Childhood Obesity? Consider Genetic Causes
Published on in Children's Doctor
James is a 3-year-old male with developmental delay and rapid weight gain/obesity. Prenatal history was unremarkable. His birth weight was 50th percentile and length was 90th percentile at birth. Soon after birth, he started showing feeding difficulties, poor suck/coordination, and aspiration.
Uncovering Lysosomal Storage Diseases Beyond Newborn Screening
Published on in Children's Doctor
Jaden was a 4-year-old who presented to his PCP’s office with a persistent cough following an upper respiratory infection. Parents reported Jaden also had easy bruising, a symptom they had also noted after he had started walking.
Researchers Use Model of Hypothalamus to Implicate Genes Associated with Sleep, BMI, Puberty, and More
Published on in CHOP News
Stem cells help researchers create more complete genomic picture of difficult-to-study part of the brain involved in many key functions.
CHOP and Penn Medicine Named as an Inaugural Rare Disease Centers of Excellence
Published on in CHOP News
The National Organization for Rare Disorders announced 31 centers to achieve better outcomes for all members of the rare disease community.
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.