Division of Human Genetics News

New research has identified several new clinical considerations and provides guidance for proper diagnosis and management of very rare disease.

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.

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.

Stem cells help researchers create more complete genomic picture of difficult-to-study part of the brain involved in many key functions.

The National Organization for Rare Disorders announced 31 centers to achieve better outcomes for all members of the rare disease community.

CHOP was one of the first sites to assess a new form of whole genome sequencing.

Mitochondria are not "properly recycled" in some cases, and this may serve as a potential target for future therapeutic interventions.

The Mitochondria and Cancer Connections (MC²) Research Program will study how cancer cells find the energy to grow and ways to prevent their return.

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.

Outcome measurements revealed information about muscle weakness and differences between pediatric and adult patients.