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Impacting Human Health

Wenfeng An and Simon Newkirk

Understanding mutations in sperm cells can help prevent birth defects

Preventing birth defects by treating families at risk for genetic mutation before they conceive is the goal of research led by associate pharmaceutical sciences professor Wenfeng An. He is the College of Pharmacy and Allied Health Profession’s first endowed scholar, a cancer research position created in 2014 through a trust established by SDSU alumni Barry and Sharon Markl.

An and his research group look at mobile DNA segments that can copy and paste themselves to a new position on the same or another chromosome, known as L1s. Though they contribute to genetic diversity and are a major driver of evolution, these mutations can sometimes lead to dysfunction and disease.  One of the best known examples is L1-induced hemophilia, in which the insertion interrupts production of the clotting factor in blood.

In a project partially supported by a grant from the National Institute of Child Health and Human Development, An and his team are investigating L1 insertions during sperm production with the long-term goal of preventing birth defects due to L1 activities. Initial results were published in the July 11 issue of Proceedings of the National Academy of Science.

His lab is part of the Center for Systems Biology of Retrotransposition funded by the National Institute of General Medical Sciences. Since An moved his lab to SDSU in late 2014, he has secured nearly $800,000 in National Institutes of Health funding. By 2018, total federal funding is expected to reach approximately $1.4 million.