|Title||The search for genetic determinants of human neural tube defects.|
|Publication Type||Journal Article|
|Year of Publication||2019|
|Authors||Wolujewicz P, M Ross E|
|Journal||Curr Opin Pediatr|
|Date Published||2019 Dec|
PURPOSE OF REVIEW: An update is presented regarding neural tube defects (NTDs) including spina bifida and anencephaly, which are among the most common serious birth defects world-wide. Decades of research suggest that no single factor is responsible for neurulation failure, but rather NTDs arise from a complex interplay of disrupted gene regulatory networks, environmental influences and epigenetic regulation. A comprehensive understanding of these dynamics is critical to advance NTD research and prevention.
RECENT FINDINGS: Next-generation sequencing has ushered in a new era of genomic insight toward NTD pathophysiology, implicating novel gene associations with human NTD risk. Ongoing research is moving from a candidate gene approach toward genome-wide, systems-based investigations that are starting to uncover genetic and epigenetic complexities that underlie NTD manifestation.
SUMMARY: Neural tube closure is critical for the formation of the human brain and spinal cord. Broader, more all-inclusive perspectives are emerging to identify the genetic determinants of human NTDs.
|Alternate Journal||Curr. Opin. Pediatr.|