Scientists Identify Key Step in How Teeth Develop in the Womb

Investigators with Cedars-Sinai Guerin Children’s and other research institutions have identified a process responsible for the development of teeth called incisors—a discovery that could one day improve understanding of how birth defects happen.

Researchers Develop AI Model to Better Predict Which Drugs May Cause Birth Defects

Data scientists at the Icahn School of Medicine at Mount Sinai in New York and colleagues have created an artificial intelligence model that may more accurately predict which existing medicines, not currently classified as harmful, may in fact lead to congenital disabilities. The model, or “knowledge graph,” described in the July 17 issue of the Nature journal Communications Medicine, also has the potential to predict the involvement of pre-clinical compounds that may harm the developing fetus. The study is the first known of its kind to use knowledge graphs to integrate various data types to investigate the causes of congenital disabilities.

CHOP Researchers Identify Potential Genetic Variants Linked to Increased Cancer Risk in Children with Birth Defects

Researchers have identified several genetic variants associated with increased risk of cancer in children with non-chromosomal birth defects, such as congenital heart disease and defects of the central nervous system. While the risk of developing cancer is not as high as children with chromosomal birth defects, it is significantly higher than children with no birth defects at all, and the findings may provide a basis for early detection in these understudied patients.

Scientists Discover Gene Plays Critical Role in Embryo Development

A new study co-led by a Cedars-Sinai investigator identified a gene that plays an important role in a biological pathway involved in embryo development. The gene’s impact at the cellular level could explain why some babies are born with physical abnormalities and why some adults develop diseases such as cancer. The findings are published in Nature Communications.

New Grant Seeks to Fill Knowledge Gaps Regarding Spina Bifida

Researchers at UC San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine have been awarded a five-year, $8.3 million grant from the National Institutes of Health to investigate the causes of spina bifida, the most common structural defect of the central nervous system.

WHERE TROUBLE STARTS

In the earliest hours of your embryonic status, cells were developing and multiplying, critical processes were starting up, networks were connecting and genetic codes — for better or worse — were directing the whole project.

That early development is the focus of University of Delaware biologist Shuo Wei’s research. Now his work has won more than $1.8 million in support from the National Institutes of Health.

Split Ends: New studies show how DNA crossovers can drive healthy, abnormal sperm, egg cell division

Human genetic diversity wouldn’t be possible without DNA crossovers in egg and sperm cells. Two Harvard Medical School studies provide new insights into how crossovers go right–and wrong, leading to infertility, miscarriages and birth defects.

Benefits of Fetal Surgery for Spina Bifida Persist in School-Age Children

In a follow-up to the landmark 2011 study that demonstrated prenatal surgery for spina bifida has measurable benefits over surgery after birth for one of the most disabling neural tube defects, researchers have published new findings. These findings show significant physical and emotional benefits a decade later in school-age children who received corrective surgery in the womb for myelomeningocele, the most severe form of spina bifida.

BREAK POINT

At a glance:

Experiments in worms reveal the molecular damage caused by DEHP, a chemical commonly used to make plastics flexible
DEHP interferes with proper cell division during egg formation, leads to excessive DNA breakage, alters chromosome appearance
Abnormalities help explain known link between DEHP and human birth defects, male infertility
If replicated in further research, the insights can help inform regulatory changes, consumer choice

b