Pfizer COVID-19 vaccine appointments are available to our patients. Sign up for Connect today to schedule your vaccination. Continue your routine care with us by scheduling an in-person appointment or Video Visit.

The search for genetic determinants of human neural tube defects.

TitleThe search for genetic determinants of human neural tube defects.
Publication TypeJournal Article
Year of Publication2019
AuthorsWolujewicz P, M Ross E
JournalCurr Opin Pediatr
Date Published2019 Aug 12

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 JournalCurr. Opin. Pediatr.
PubMed ID31408019