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From the College of Natural Sciences
Live Cell Imaging Reveals New Clues About Processes Linked to Birth Defects

Live Cell Imaging Reveals New Clues About Processes Linked to Birth Defects

John Wallingford, professor of molecular biosciences at The University of Texas at Austin, and his team used a process called live cell imaging to make observations about how a developing embryo transforms from its early ball shape into a more elongated shape with a distinct head and rear. Disruptions to this process in human embryos can lead to birth defects.

Ancient Cousins, New AI Could Reveal Clues About Causes of Birth Defects

Ancient Cousins, New AI Could Reveal Clues About Causes of Birth Defects

Editor's note: Each December, the journal Science identifies one scientific discovery as its "Breakthrough of the Year." For 2021, this recognition went to AlphaFold and RoseTTA-fold—artificial intelligence software that accurately predicts the 3D structure of proteins. Guest writer and microbiology graduate student Colleen Mulvihill reports on one example of how UT Austin scientists are using the new technology to solve longstanding questions in human health.

Mutation in Gene Leads to Variety of Poorly Understood Birth Defects

Mutation in Gene Leads to Variety of Poorly Understood Birth Defects

Scientists have identified genetic mutations that appear to be a key culprit behind a suite of birth defects called ciliopathies, which affect an estimated 1 in 1,000 births. In a paper published online this week in Nature Genetics, a team of researchers led by The University of Texas at Austin's John Wallingford reveals that these mutations prevent certain proteins from working together to smooth the way for cells to communicate with one another.

Researchers Discover Why It's So Hard to Grow an Extra Finger

Researchers Discover Why It's So Hard to Grow an Extra Finger

The fact that most humans have five digits on each hand and foot is due in part to a complex developmental pathway called Hedgehog. If something goes wrong in this process during development, say a mutation in a critical gene that affects its expression, a person might be born with extra fingers or toes, a condition known as polydactyly. New research shows that for at least one part of the pathway, there is a sort of failsafe mechanism that seems to make it harder for mistakes to happen.

Lack of Key Enzyme in the Metabolism of Folic Acid Leads to Birth Defects

Lack of Key Enzyme in the Metabolism of Folic Acid Leads to Birth Defects

Scientists discover the clearest mechanistic link yet between folic acid and birth defects, which helps explain why folic acid dietary supplements don't prevent all neural tube defects.

Pediatric Geneticist Searches for Role of Environmental Contaminants in Birth Defects with $1.2 Million Grant from EPA

Pediatric Geneticist Searches for Role of Environmental Contaminants in Birth Defects with $1.2 Million Grant from EPA

The team will then develop mathematical models to predict which chemical exposures have the potential to harm a pregnant woman or her developing infant.

Contaminants Become Us

The contaminants in our food, water, soil and air may be changing not just us but our children and grandchildren as well.
Op-ed: Our Contaminated World

Op-ed: Our Contaminated World

Biologists David Crews and Andrea Gore argue that it's time for us to face the fact that our world is contaminated by chemicals, and we're contaminated as well.

Before She is a Mother: Q&A with Pediatric Geneticist Huiping Zhu

Before She is a Mother: Q&A with Pediatric Geneticist Huiping Zhu

Zhu and her colleagues are investigating the risk factors for the development of neural tube defects.

UT Hosts Conference on Neural Tube Defects

This week Austin hosts the 7th International Conference on Neural Tube Defects.