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Related Experiment Videos

Gene-environment interactions in rare diseases that include common birth defects.

John M Graham1, Gary M Shaw

  • 1Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA. john.graham@cshs.org

Birth Defects Research. Part A, Clinical and Molecular Teratology
|November 3, 2005
PubMed
Summary

Rare syndromes present unique birth defects but show variable severity. This study explored genetic and environmental factors contributing to this variability in conditions like cardiovascular defects and neural tube defects.

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Area of Science:

  • Developmental biology
  • Genetics
  • Environmental health

Background:

  • Rare syndromes often present with specific birth defects, serving as diagnostic indicators.
  • Significant variability exists in how individuals with the same syndrome are affected.
  • Understanding the causes of this variability is crucial for diagnosis and management.

Framework:

  • Exploration of genetic versus environmental contributions to birth defect variability.
  • Focus on major diagnostic clues in rare genetic disorders.
  • Symposium convened by the National Institutes of Health (NIH) and the National Toxicology Program (NTP).

Implementation:

  • Examined specific birth defects: cardiovascular defects, holoprosencephaly, cleft lip/palate, neural tube defects, and diaphragmatic hernias.

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  • Assessed the interplay of genetic and environmental factors in disease manifestation.
  • Synthesized expert knowledge on etiological factors in birth defects.

    • Implications:

    • Improved understanding of etiological heterogeneity in rare syndromes.
    • Potential for more precise diagnostic approaches based on genetic and environmental risk factors.
    • Informed strategies for prevention and intervention in congenital anomalies.