Division of Human Genetics News & Announcements

Scientists from Children’s Hospital of Philadelphia attend the American Society of Cell & Gene Therapy Annual Meeting to share their expertise through posters, panel discussions, and workshops.

Learn about a novel disorder caused by rare genetic variants, the importance of global neonatal outcomes, and more, in this week’s edition of In the News.

The disorder was identified in 21 patients with neurodevelopmental and craniofacial symptoms; causal gene may be a valuable therapeutic target.

The work of Children’s Hospital of Philadelphia researchers leads to novel findings and recognitions.

This week’s news roundup features discoveries related to COVID-19’s effect on adolescents, autism screening, telemedicine, and more.

Elizabeth Bhoj, MD, PhD, and David Hill, MD, PhD, are recipients of a 2021 Individual Biomedical Research Award from The Hartwell Foundation.

Learn about earn about a regional research collaboration, prestigious awards, and listen to a special podcast series.

This week’s In the News highlights studies about autism and driving, WAGR Syndrome, cleft palate and lip, and invasive candidiasis.

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

Researchers have unlocked patterns to improve the diagnosis of the most common epigenetic childhood cancer disorder