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Advancing Health: A Pediatric Geneticist Homes in on Diabetes, Obesity, and Birth Defects

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Dr Huiping Zhu

A research assistant professor in the School of Human Ecology’s Department of Nutritional Sciences, Dr. Huiping Zhu, above, is a member of the Dell Pediatric Research Institute’s Finnell Lab, a team of epidemiologists, statisticians, clinicians, and geneticists working to discover the causes of birth defects of the brain and spinal cord such as spina bifida.

As part of the Centers for Disease Control and Prevention’s National Birth Defects Prevention Study, Zhu and her colleagues parse complicated and interrelated risk factors — environmental toxins, maternal nutrition, genetics — to learn more about neural tube defects (NTDs) and how to prevent them.

What is already known about neural tube defects?

Overall, NTDs impact 1 in 1,000 births, and researchers have been studying the role environmental factors play in their origin for many years. They’ve identified several factors with a known connection. For example, there are many commonly known drugs that have an established link. And recently we’ve learned that diabetes and obesity in the mother are risk factors for the development of birth defects in her baby.

Folic acid protects against birth defects. Doesn’t the story end there?

We’ve known for more than 20 years that folic acid is important for the prevention of birth defects, especially NTDs. Our food is now fortified with it, but we still don’t understand how it works. What we do know is that it doesn’t do the same thing for everyone; folic acid offers varying degrees of protection.

The university's Dell Pediatric Research Institute is a state-of-the-art medical research facility that is advancing understanding of childhood diseases and disorders.

There are other environmental exposures linked to birth defects, and we’re studying those. The anti-epileptic drug valproic acid (VPA), for instance, has been established as a risk factor for NTDs. If you take VPA, your body weight is likely to increase. We don’t understand why VPA increases body weight, but we do know that both this drug and obesity cause birth defects. There are some interesting links here.

How will your work benefit women preparing for motherhood?

There are almost 100 genes that have been related to developing obesity. If you have certain mutations, you tend to develop obesity or diabetes. While you might not be obese or diabetic when you get pregnant, you might have a gene that makes you prone to developing diabetes when you are 50. My hypothesis is if you have the susceptibility that will ultimately make you obese or diabetic later in life, your body is already in less than optimal condition.

In order to develop to its full potential, the embryo needs the best possible environment. The central nervous system is very sensitive to anything the mother’s body provides, so if the mother has an already compromised internal environment she will provide a compromised environment for the developing embryo. She might not know it. She is not obese yet; she is not diabetic yet. I am testing these genes to see if they predict the outcome of the pregnancies.

My work will explain the genetic part of the link between obesity, diabetes, and birth defects. But this is only the beginning. My next goal is to put the pieces together to have a better understanding of the mechanisms.

How did you choose your area of research?

When I was pregnant with my second child, I developed gestational diabetes. I was shocked. I am not overweight; I eat healthy. I did some research, which showed that there is a high incidence of gestational diabetes among Asian women. I realized it must be genetic. I want to help women to think about and understand their risk of complications before they get pregnant. It will be too late to start after a woman is already pregnant, so I chose to focus on mothers before they become mothers. 

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