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

Decoding NF

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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