The Gabriella Miller Kids First Pediatric Research Program (Kids First) is pleased to announce a series of new releases for its publicly available data in structural birth defects. These recent releases were added to the program’s Data Resource Center collaborative pediatric research effort and are accompanied by a series of data and program updates.  These public data releases include:

• On September 7, 2022, Kids First released data from a funded study on Cornelia de Lange Syndrome (CdLS), which is described by development delays, cognitive impairment, short stature, hearing loss, specific facial features, and structural birth defects such as differences of the limbs, heart, kidneys, and GI tract. Led by Dr. Ian Krantz of the Children’s Hospital of Philadelphia, this work is poised to lead to the identification of genetic causes and candidate genes for isolated birth defects seen together in similar diagnoses.
• On August 25, 2022, Kids First released data from the Kids First Bladder Exstrophy, Epispadias, Complex (BEEC) ​study. Patients with BEEC suffer significant illness and mortality due to impaired genito-urinary dysfunction. Led by Dr. Angie Jelin of Johns Hopkins University, this work shows how critical discovering this condition’s underlying genetic components is to understanding  its developmental signaling pathways and is likely the first step to developing targeted therapy.

Updates to Existing Data Releases:

• Effective October 6, 2022, the NICHD GMKF Enchondromatoses Study has been updated to version 2 in the dbGaP system. The public study report page may be browsed at dbGaP.
• Effective October 21, 2022, the NCI GMKF Kidney UT Malformations Study has been updated to version 2 in the dbGaP system. The public study report page and summary-level phenotype data may be browsed at dbGaP.

The Gabriella Miller Kids First Pediatric Research Program looks forward to a number of additional releases in the near future.  To learn more about Kids First previously Funded Research, visit the program website.