Webinar

Tyler's Hope Webinar July 7, 2020

Tyler's Hope for Dystonia Cure Foundation is advancing research on dystonia through collaboration, focusing on genetic insights and innovative therapies like gene editing, while addressing challenges in treatment development and the importance of education and genetic counseling.

• Tyler's Hope for Dystonia Cure Foundation is dedicated to finding treatments for dystonia through research collaboration, highlighted by expert discussions on challenges faced during the COVID-19 pandemic.
  • Tyler's Hope for Dystonia Cure Foundation aims to find effective treatments and raise awareness for dystonia through research funding and collaboration with top researchers.
  • Dr. Michael Oaken, chair of neurology at the University of Florida, cofounder of the movement disorder program, and medical director for the Parkinson's foundation, is a key speaker at the webinar.
  • Dr. Edgar Rodriguez, a gene therapy expert with 20 years of experience, focuses on developing therapies for neurodegenerative diseases and serves as a scientific adviser for Tyler's Hope and co-founder of a biotech company.
  • Dr. Michael Oaken and researcher Edgar Rodriguez discuss the challenges of living with dystonia during the COVID-19 pandemic and the importance of community support.
  • Questions on any topic, including sports and history, are welcome.
  • Tyler's Hope focuses on understanding DYT1 dystonia, a genetic disorder caused by a deletion on chromosome 9, to develop meaningful treatments through collaborative research efforts.
• Edgar highlights the collaboration with Tyler's Hope, emphasizing the genetic basis of dystonia for effective therapy development and the importance of brain communication in addressing the disease.
  • Edgar expresses gratitude for the opportunity to collaborate with Tyler's Hope and is ready to answer questions.
  • Dystonia involves complex brain mechanisms, but research is simplified by the clear genetic basis of certain types, allowing for effective modeling and therapy development.
  • Dystonia is a complex circuitry disease characterized by intact neurons, unlike neurodegenerative diseases, suggesting potential for therapeutic intervention.
  • Different departments within the brain need effective communication to function properly, and dysfunction arises when they fail to do so.
• Researchers are exploring gene therapy and CRISPR technologies to address dystonia, focusing on the genetic disruptions affecting communication in the brain while overcoming challenges in treatment variability.
  • Dystonia involves intact neurons and functional brain structures, but there is a disruption in communication that is not evident in imaging.
  • A small deletion on a chromosome disrupts cellular function and alters the basal ganglia circuitry, leading to various symptoms in patients, despite some carrying the gene without manifesting symptoms.
  • Key barriers to developing therapies for dy t1 dystonia include the variability in disease manifestation among individuals with the genetic deletion and the preservation of neurons, which offers potential for treatment.
  • Advancements in mouse genetics are helping identify specific cell types involved in diseases, paving the way for targeted gene therapies akin to common medications.
  • Researchers at the University of Florida are exploring gene therapy and editing strategies, using a non-pathogenic virus to deliver corrected genes to treat neurological diseases like dystonia and spinal muscular atrophy.
  • Discussion centers on the progress and future steps of CRISPR technologies and the necessary experiments in lab and animal models.
• Human trials for dystonia therapies are hindered by barriers, necessitating improved gene editing, collaboration, and understanding of disease mechanisms to develop effective treatments.
  • Human trials are progressing slowly due to existing barriers despite public interest and media coverage.
  • Developing effective and safe biological therapies requires careful manipulation of gene expression and thorough understanding of dosage and targeted cell types.
  • Identifying the best genetic targets for drug development requires diverse research collaboration and resource allocation to advance discovery efforts.
  • Efforts are underway to advance genome editing for dystonia using CRISPR technology to target mutant alleles, alongside the development of small molecules for therapeutic applications.
  • Dystonia treatments often have significant side effects that limit their effectiveness, particularly in children, highlighting the need for advancements in gene editing and related technologies.
  • Barriers to developing specific drugs for dystonia include the need for effective model systems, understanding disease pathophysiology, and ensuring small molecules can penetrate the brain effectively.
• Researchers are focused on exploring potential treatments for neuronal dysfunction despite uncertainties, emphasizing the need for funding and a comprehensive approach to tackle diseases like Parkinson's and dystonia.
  • Despite ongoing questions about neuronal dysfunction and disease mechanisms, researchers remain determined to explore potential treatments and compounds that may improve brain circuitry function.
  • Efficacy and safety of drugs can be prioritized for clinical use even if the exact mechanism of action is unknown, while biologics target specific mechanisms with precision.
  • Small molecules are advanced to clinical trials if they are effective, safe, can penetrate the brain, and do not cause adverse effects in peripheral organs.
  • In addition to funding research, a comprehensive approach involving prevention, advocacy, care, and treatment is essential for making a significant impact on diseases like Parkinson's and dystonia.
  • Funding for research and advocacy in the field is critically low, necessitating a more aggressive and charismatic approach to drive change.
• During the COVID-19 pandemic, it's vital to educate vulnerable populations on safety, while also recognizing the complexities of genetic testing for dystonia and the importance of humility in medical knowledge.
  • During the COVID-19 pandemic, it is crucial to educate and guide people, especially the elderly and underserved populations, to stay at home to save lives.
  • Dystonia patients should prioritize safety by wearing masks and maintaining distance, as having dystonia does not inherently increase the risk of contracting COVID-19, but comorbidities may complicate recovery.
  • Utilize time at home to engage in outdoor activities, family bonding, and health-enhancing practices while adhering to safety guidelines.
  • There is a growing interest in genetic testing for dystonias, with more patients seeking information about their DNA, although the implications of the results can be unclear.
  • The discovery of genetic mutations related to dystonia is revealing complexities in understanding symptoms and their causes, highlighting the need for caution in interpreting genetic findings.
  • In medicine, increased knowledge often leads to the realization of how much remains unknown, highlighting the importance of humility in the field.
• Genetic testing complexities are reshaping neurological diagnostics and treatment, emphasizing the need for personalized therapies based on genetic insights despite ongoing challenges in research.
  • Genetic testing has become complex and confusing, challenging traditional diagnostic methods and leaving both neurologists and families overwhelmed by the vast amount of information and exceptions.
  • Major genetic mutations in dystonia, particularly dy t1 and dy t6, influence prognosis and treatment options, but the cost of genetic testing is decreasing without significantly altering treatment approaches.
  • Understanding individual genotypes will be crucial for developing precise therapies for neurological diseases in the near future.
  • Advancements in pharmacogenomics are shifting medicine towards personalized treatments based on genetic makeup, influencing drug response and metabolism.
  • Identifying genetic associations with disease phenotypes can enhance therapy development, but challenges remain in expediting the symptom manifestation in mouse models for faster screening.
  • Balancing model speed and accuracy is crucial to ensure effective therapy development and avoid misleading results in disease research.
• Genetic counseling is vital before genetic testing, as it influences life choices, while advancing dystonia research requires more trained counselors and a focus on patient registries.
  • Genetic counseling is essential before undergoing genetic testing, as understanding one's genetic status can significantly impact life decisions.
  • Counselors play a crucial role in advancing dystonia research and funding, while more training and fellowships for researchers are needed, alongside potential discussions on deep brain stimulation and other treatments.
  • The webinar emphasized the importance of the dystonia international patient registry for researchers and encouraged participants to reach out with questions or for assistance.