Guardian of Neurodevelopment|How New Technology is Helping Detection and Prevention of Birth Defects.

Beyond the Defects: Amber’s Journey

In Episode 4 of "Beyond The Defects," we delve into the fascinating world of nonsense-mediated RNA decay (NMD) and its crucial role in neurodevelopmental disorders as the concluding segment of a two-part mini-series. NMD is an essential evolutionary mechanism that degrades potentially defective messenger RNAs (mRNAs), maintaining cellular health by preventing the accumulation of faulty proteins.

We explore groundbreaking research led by Professor Sika Zheng at the University of California, Riverside, which reveals the intricate relationship between NMD and neurodevelopmental disorders, particularly autism, intellectual disability, and microcephaly—a condition characterized by an abnormally small head size in infants. This study underscores the importance of proper neuronal NMD function during early brain development and its potential implications for cancer.

Discover how NMD regulation of the tumor suppressor gene p53 links mRNA decay to brain size control, offering promising therapeutic avenues for treating neurodevelopmental disorders and cancer. By understanding the molecular mechanisms that connect NMD to brain size and neuronal health, we gain critical insights into the genetic underpinnings of these conditions.

Join us as we uncover the potential of targeting NMD pathways to develop treatments for microcephaly and related disorders, and the novel connection between NMD and cancer biology. This episode provides a comprehensive understanding of NMD's role in brain development and its broader implications for human health.

Stay tuned to learn more about the latest advancements in neurodevelopmental research and the ongoing efforts to improve the lives of those affected by these conditions. Remember, at the Amber Garrelts Foundation, we are here to support you with the latest information and resources. Tune in, stay informed, and continue to make a difference!

Don't forget to mark your calendars for our support group meeting on Friday, September 27, 2024, at 12 PM. Visit our website, ambergarreltsfoundation.com, or email us at [e-mail] for more information. Thank you for your support, and until next time, stay healthy and remember, You Can and We Care. Amber Garrelts, Garland, Texas, signing off.