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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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19 hot topic(s) found with the query "Spina bifida"

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
P Wolujewicz et al, Genetics in Medicine, March 8, 2021 (Posted: Mar 08, 2021 8AM)

In 2 separate ancestry-matched SB case–control cohorts (140 cases), we found that SB cases were enriched with exon disruptive rare CNVs, 44% of which were under 10 kb, in both ancestral populations. Genes containing these disruptive CNVs fall into molecular pathways, supporting a role for these genes in SB. Our results expand the catalog of variants and genes with potential contribution to neurulationn.

World Birth Defects Day, March 3, 2021
CDC, March 2021 Brand (Posted: Mar 01, 2021 3PM)

March 3 is World Birth Defects Day. Join us to raise awareness of birth defects, their causes, and their impact around the world! Our theme is “Many birth defects, one voice.” Every year, about 3-6% of infants worldwide are born with a serious birth defect. This means that life-altering conditions like spina bifida and congenital heart defects affect millions of babies regardless of where they are born, their socioeconomic status, or their race or ethnicity.

Real Stories: Living with Spina Bifida
CDC, 2019 Brand (Posted: Oct 22, 2019 9AM)

Spina bifida is a condition that affects the spine and is usually apparent at birth. It is a type of neural tube defect (NTD). To learn what it’s like to live with this condition or how families are affected, read these real stories from people living with spina bifida.

Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Prasoona Kattekola R et al. Developmental medicine and child neurology 2015 Sep (Posted: Oct 05, 2015 9AM)

Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.
Mazumdar Maitreyi et al. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep (9) 754-62 (Posted: Oct 05, 2015 9AM)

Nutri-epigenomic Studies Related to Neural Tube Defects: Does Folate Affect Neural Tube Closure Via Changes in DNA Methylation?
Rochtus Anne et al. Mini reviews in medicinal chemistry 2015 (13) 1095-102 (Posted: Oct 05, 2015 9AM)

Neural tube defects.
Greene Nicholas D E et al. Annu. Rev. Neurosci. 2014 221-42 (Posted: May 01, 2015 0PM)

DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects.
Shangguan Shaofang et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jan (1) 37-44 (Posted: May 01, 2015 0PM)

The outcome and course of pregnancies complicated with fetal neural tube defects.
Steric M et al. Clin Exp Obstet Gynecol 2015 (1) 57-61 (Posted: May 01, 2015 0PM)

Spina bifida
Nature Reviews Disease Primers, April 30, 2015 (Posted: May 01, 2015 11AM)

Data from CDC's spina bifida registry suggests certain patients may have less favorable health outcomes
Brand (Posted: Feb 25, 2015 0PM)

Spina bifida is a condition that affects the spine and is usually apparent at birth. It is a type of neural tube defect (NTD)
Brand (Posted: Feb 25, 2015 0PM)

Test your knowledge about spina bifida
Brand (Posted: Feb 25, 2015 0PM)

Spina bifida basics
Brand (Posted: Feb 25, 2015 0PM)

Spina Bifida Registry
Brand (Posted: Feb 25, 2015 0PM)

Anencephaly and spina bifida X-linked
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spina bifida hypospadias
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Split hand urinary anomalies spina bifida
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Spina bifida
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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