CHOP Researchers Publish Most Comprehensive Clinical Description of WAGR Syndrome to Date
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New research has identified several new clinical considerations and provides guidance for proper diagnosis and management of very rare disease.
Division of Human Genetics News and Updates
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CHOP Researchers Find Possible Increased Tumor Risk in Some Patients with Beckwith-Wiedemann Spectrum
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Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder.
Unexplained Childhood Obesity? Consider Genetic Causes
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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
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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
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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
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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
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CHOP was one of the first sites to assess a new form of whole genome sequencing.
CHOP Researchers Find That Differences in Mitochondria Lead to More Severe Cases of Rare Genetic Disease
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Mitochondria are not "properly recycled" in some cases, and this may serve as a potential target for future therapeutic interventions.
Trisomy 21 Experts Present at Genetics Grand Rounds
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Trisomy 21 Program staff provide details on the joys and challenges of raising a child with Down syndrome to help genetic counselors better prepare families.
Researchers at CHOP Join Forces to Study Connections Between Mitochondria and Cancer
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The Mitochondria and Cancer Connections (MC²) Research Program will study how cancer cells find the energy to grow and ways to prevent their return.