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Structural Birth Defects Data Releases from the Gabriella Miller Kids First Program in 2023
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The Gabriella Miller Kids First Pediatric Research Program is pleased to announce a series of new releases for its publicly available data in structural birth defects. These releases were added to the program’s Data Resource Center collaborative pediatric research effort. The program’s structural birth defects data releases include:

  • Fetal Alcohol Spectrum Disorder (FASD) impacts 1-5% of children in the U.S. and there is variability in genetic risk or protective factors in prenatal alcohol exposure. The Genetic Basis of Fetal Alcohol Spectrum Disorders study led by Dr. Christina Chambers of the University of California San Diego, examines the susceptibility of genetic alterations from prenatal alcohol exposure and will provide a better understanding of the pathogenetic mechanisms underlying FASD for potential intervention strategies.
  • Orofacial clefts (OFCs) are a craniofacial structural birth defect in humans due to incomplete formation of the upper lip and/or the palate, causing difficulties in eating, hearing, speech, as well as dental problems. In particular, the Philippines have one of the highest prevalence rates of OFCs in children, impacting over 4,000 children born with the structural abnormality each year. The goal of this Kids First project is to understand the development of OFCs for improved prevention, treatment and prognosis for individuals with this disorder through whole genome sequencing (WGS) in diverse, high-risk populations. Led by Drs. Elizabeth Leslie of Emory University, Mary Marazita of the University of Pittsburgh, and Jeffrey Murray of the University of Iowa, data from the Kids First: Genomics of Orofacial Clefts in the Philippines study will ultimately advance the understanding of OFCs.
  • A multiple anomaly condition called CHARGE Syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital abnormalities including pubertal delay and infertility, Ear abnormalities with deafness and vestibular disorders) impacts a variety of organ systems and is mostly caused by genetic variants. Led by Dr. Donna Martin of University of Michigan, Ann Arbor, the Genomic Etiologies of CHARGE Syndrome, Related Conditions and Structural Anomalies Project will use genome sequencing to improve diagnosis and understanding of multiple anomaly conditions such as CHARGE Syndrome.
  • The Pediatric Research Project on Adolescent Idiopathic Scoliosis study led by Dr. Jonathan Rios of UT Southwestern Medical Center aims to identify genes and mutations that cause idiopathic scoliosis (IS), a genetic spine deformity. This study will provide an opportunity to improve preventative measures, diagnostics, and therapeutic interventions.
  •  Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) are responsible for up to 50% of pediatric and 7% of adult end-stage kidney failure. CAKUT frequently occurs in conjunction with other structural birth defects.  The Genetics of Kidney and Urinary Tract Malformations study led by Dr. Ali Gharavi of Columbia University Health Sciences seeks to shine light on the genetic causes of these disorders and is poised to provide new opportunities for diagnosis, risk stratification and prevention of complications.

The Kids First program looks forward to additional releases in the near future. To learn more about Kids First previously Funded Research, visit the program website.

This page last reviewed on September 20, 2023