Neural tube defects (NTDs) represent a group of very common malformations in humans that are present at birth (1-2 infants per 1000 births). They are caused by a partial or complete failure of the spinal column to close during early development of the embryo. The most common forms of NTDs are anencephaly and spina bifida. They arise from a combination of genetic and environmental factors. Despite intensive efforts, the identification of genes responsible for NTDs, by classical genetic studies, has had limited success for several reasons.
Professor Kibar and her team propose to use innovative and powerful DNA resequencing methods to sequence all the coding exons of the genome (exome), in a cohort of 24 subjects (affected and unaffected relatives) selected from 6 NTD families. Such a large-scale approach increases the potential to identify rare pathogenic mutations in NTDs. Identification of genes predisposing to NTDs will help better understand the underlying pathological mechanisms and is crucial for studying and characterizing the gene-environment interactions. These studies will help design novel preventive strategies and better counseling for couples at risk.
Co-applicant:
| Jacques | Michaud | CHU Sainte Justine |