• Genetics, Research, and Future Therapies for NF1 with Dr. David Gutmann

  • Aug 16 2024
  • Duración: 56 m
  • Podcast

Genetics, Research, and Future Therapies for NF1 with Dr. David Gutmann

  • Resumen

  • In this episode, my guest is Dr. David Gutmann, a leading neurologist specializing in Neurofibromatosis Type 1 (NF1). The conversation delves into Dr. Gutmann's groundbreaking research on the NF1 protein neurofibromin and its role in downregulating the RAS/RAF/MAPK cell signaling pathway. We explore various neurological issues associated with NF1, such as learning problems, brain tumors, and ADHD. Dr. Gutmann shares insights on current and future treatments, including MEK inhibitors and potential therapies targeting the tumor microenvironment. Additionally, we discuss the application of AI and machine learning in predicting disease risk and developing more personalized treatments. Our conversation underscores the importance of thinking about NF1 as a complex system and highlights the broader implications of NF research for other medical fields.

    For a bit of background on RAS/RAF/MAPK here is a thorough and helpful video that explains cell signaling: The MAP Kinase (MAPK) signalling pathway

    If you really want to delve into the details on this fascinating topic, here is another link that gets into the technical minutia: The Open University -- Cell Signalling

    During the interview, Dr. Gutmann references a paper his team recently published in collaboration with Dr. Michelle Monje's lab. That paper is Nf1 mutation disrupts activity-dependent oligodendroglial plasticity and motor learning in mice

    00:00 Introduction to the Episode

    00:22 Meet Dr. David Gutmann

    00:32 Dr. Gutmann's Research and Achievements

    02:36 Interview Expectations and Technical Notes

    04:53 Starting the Interview

    05:07 Dr. Gutmann's Early Career and NF1 Research

    07:11 Understanding Neurofibromin and RAS Pathway

    09:27 Exploring Neurofibromin's Other Functions

    20:28 Neurological Manifestations of NF1

    21:45 Behavioral Disorders and NF1

    28:10 Current and Future Treatments for NF1

    32:06 The Future of NF Research

    36:14 The Role of AI and Genomics in NF1

    48:31 Challenges and Opportunities in NF Research

    50:41 Closing Remarks and Optimism for the Future

    53:45 Episode Conclusion and Acknowledgements

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    • Waz
    • Annette B.
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