Genetics, Research, and Future Therapies for NF1 with Dr. David Gutmann
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
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.
- Rosemary Anderson
Creators and Guests
Guest
Dr. David Gutmann
Dr. David H. Gutmann is a renowned neurologist specializing in Neurofibromatosis, particularly NF1. His research focuses on understanding the genetic and cellular mechanisms behind nervous system problems in NF patients. Early in his career, Dr. Gutmann identified the role of the NF1 protein neurofibromin in downregulating the RAS cell signaling pathway and has since used innovative techniques like induced pluripotent stem cells and engineered mice to explore its function. He established the Washington University Neurofibromatosis Center, a world leader in the field, and has developed community programs to provide patients care throughout their lives. Beyond research, Dr. Gutmann champions collaboration. He has established international partnerships, led efforts to create medical practice guidelines, and facilitated clinical trials for new NF treatments. His dedication extends to training, having mentored numerous clinicians and scientists and actively contributing to educational programs. Dr. Gutmann's achievements are well-recognized. He has been published over 500 scientific papers, received continuous funding from the National Institutes of Health, and been honored with prestigious awards, including the 2012 Children’s Tumor Foundation Frederich von Recklinghausen Lifetime Achievement Award, a 2013 Washington University Distinguished Faculty Research Award, a 2017 Alexander von Humboldt Award, the 2019 Society for Neuro-Oncology Abhijit Guha Award, the 2020 National Neurofibromatosis Network Advocate of Hope Award, the 2020 American Academy of Neurology Neuro-Oncology Scientific Award, and the 2020 American Association of Neurology triennial George W. Jacoby Award. He is an elected Fellow of the American Academy of Neurology, the American Neurological Association, the Association of American Physicians, the American Association for the Advancement of Science, and the National Academy of Medicine, as well as a former member of the National Institute of Neurological Disorders and Stroke Advisory Council.
