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Decoding NF

Decoding NF

De : Shane Smith
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A podcast for people with Neurofibromatosis (NF-1, NF2-SWN, and Schwannomatosis)--and the people who care for them.2024 Decoding NF Hygiène et vie saine
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    Épisodes
    • End of Season One
      Nov 24 2024

      This is officially the end of Season 1. Thanks everyone, see you in 2025 for Season 2!

      Thanks to our monthly supporters
      • Annette B.
      • Rosemary Anderson
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      3 min
    • The Art and Science of Facial Reanimation--A Deep Dive with Dr. Tessa Hadlock
      Sep 13 2024

      My guest for this episode is Dr. Tessa Hadlock, a renowned facial plastic surgeon and expert in facial nerve disorders. Dr. Hadlock discusses her pioneering work in facial paralysis treatments, specifically focusing on conditions related to Neurofibromatosis Type 2 (NF2). The conversation delves into the various surgical and non-surgical options for facial reanimation, their associated risks, and long-term outcomes. Dr. Hadlock also emphasizes the importance of patient self-advocacy and the need for ongoing innovation and thorough tracking of medical results to improve quality of life for facial paralysis patients.

      00:00 Introduction and Guest Introduction

      03:01 Dr. Hadlock's Background and Expertise

      03:55 Understanding Facial Paralysis and Reanimation

      06:42 Facial Paralysis in NF2 Patients

      10:18 Treatment Options for Facial Paralysis

      12:42 Surgical Techniques and Considerations

      21:07 Physical Therapy and Botox for Facial Paralysis

      31:44 Outcomes and Success Rates

      40:16 Challenges in Medical Practice and Innovation

      57:38 The Importance of Patient Advocacy

      59:30 Conclusion and Closing Remarks

      If you'd like to support the show, we now have a Patreon membership! Sign up and get episodes over a week before they are released to the main feed!

      Thanks to our monthly supporters
      • Annette B.
      • Rosemary Anderson
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      1 h et 1 min
    • Genetics, Research, and Future Therapies for NF1 with Dr. David Gutmann
      Aug 16 2024

      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

      If you'd like to support the show, we now have a Patreon membership! Sign up and get episodes over a week before they are released to the main feed!

      Thanks to our monthly supporters
      • Annette B.
      • Rosemary Anderson
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      56 min
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