IMB Seminar Series - Professor Sally Dunwoodie ' Identifying genetic and environmental factors causing birth defects: disease-gene discovery and roles for oxygen, and vitamin B3'
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- 'Identifying genetic and environmental factors causing birth defects: disease-gene discovery and roles for oxygen, and vitamin B3'
Birth defects are present in 3-6% of live born babies and in greater numbers in those that die during gestation. The causes of birth defects are largely unknown with genetic and environmental factors, and a combination of these, proven and suspected to be the cause. We are identifying genetic and environmental factor that cause vertebral column and heart defects in human and mouse. Recently we identified a compelling new cause of embryo loss and birth defects in humans and mice. We discovered gene mutations that lead to a deficiency in NAD, and that vitamin B3 supplementation during gestation completely prevents embryo loss and defects in mice.
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