Ep. 18: Lou Gehrig’s Update Featuring Dr. Kevin Eggan
May 13, 2014
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Dr. Kevin Eggan, a professor at Harvard, is on a mission to tackle ALS using stem cells. He shares groundbreaking insights into the role of the C9orf72 gene, often overlooked in ALS research. The conversation dives into environmental factors linked to the disease, exploring intriguing cases involving athletes and military personnel. Eggan also highlights the challenges in replicating scientific studies and the desperate need for funding to advance innovative research in this vital field. Exciting findings promise hope for future ALS treatments!
Stem cell research is crucial for understanding ALS mechanisms, particularly through the development of disease models using induced pluripotent stem cells (iPSCs).
The C9orf72 gene mutation significantly contributes to ALS variability, highlighting the importance of personalized diagnosis and treatment strategies.
Repurposing existing medications, like an anti-epileptic drug, shows promise in restoring motor neuron activity and potentially treating ALS patients effectively.
Deep dives
Overview of ALS and Stem Cell Research
Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive neurodegenerative condition that initially affects motor neurons, leading to muscle weakness and atrophy. Research using stem cells has provided new insights into understanding the disease's mechanisms. Studies have highlighted that ALS can stem from genetic mutations, with approximately 10% of cases inherited from family history, while the remaining 90% remain idiopathic. The field has made significant advancements through induced pluripotent stem cell (iPSC) technology, allowing researchers to create disease models that can specifically address ALS and investigate potential therapeutic interventions.
The Impact of C9orf72 Mutation
The C9orf72 gene mutation is recognized as a significant contributor to the development of ALS, particularly among northern European patients. This mutation was discovered through extensive genetic studies, which revealed its incomplete penetrance, meaning not all carriers develop the disease. The mutation's complexity lies in its location within an intron, making it challenging to identify and understand its role in ALS. This insight sheds light on the variability of ALS presentations and highlights the need for personalized approaches to diagnosis and treatment.
Research on Physiological Changes in Motor Neurons
Recent studies utilizing iPSCs have led to groundbreaking discoveries regarding the physiological alterations in motor neurons due to disease-causing mutations. By analyzing motor neurons derived from patients with the SOD1 mutation, researchers identified that the electrical activity of these neurons is significantly disturbed. This disturbed activity correlates with the downstream effects that contribute to cell degeneration. Furthermore, findings suggest that restoring normal neuronal activity through existing medications could open new avenues for ALS treatment strategies.
Potential Therapeutics and Drug Repurposing
The exploration of existing drugs for repurposing to treat ALS shows promise, particularly an anti-epileptic medication that was found to modulate motor neuron activity effectively. Research indicates that this drug can potentially mitigate the adverse physiological responses observed in motor neurons affected by ALS-causing mutations. Collaborations with leading pharmaceutical companies are underway to design clinical trials to evaluate this drug's efficacy in ALS patients. This approach demonstrates the potential of harnessing knowledge from stem cell research to develop accessible treatment options.
Challenges and Future Directions in ALS Research
The pursuit of effective treatments for ALS faces significant challenges, particularly due to the complex nature of the disease and the variability among patients. With multiple genetic factors potentially contributing to disease onset, understanding the unique pathways behind each case necessitates further research and collaboration. Future studies are expected to leverage iPSC technology to unravel the multifaceted nature of ALS and explore targeted therapeutic interventions. As research progresses, the integration of innovative approaches could ultimately lead to advancements in managing and treating this debilitating condition.
Guest:
Dr. Kevin Eggan from Harvard University joins the show to talk about his latest work using stem cells to cure ALS/Lou Gehrig’s disease.
Resources and Links
Fate of iPSCs Derived from Azoospermic and Fertile Men following Xenotransplantation to Murine Seminiferous Tubules
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Japanese Nobel Winner Latest to Apologize Over Stem-Cell Research
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First Stem Cells Cloned From Diabetes Patient, Thanks to Egg Donors
Human Oocytes Reprogram Adult Somatic Nuclei of a Type 1 Diabetic to Diploid Pluripotent Stem Cells
Human Embryonic-Stem-Cell-Derived Cardiomyocytes Regenerate Non-Human Primate Hearts
Infertility: Stem Cell-Based Sperm Created From Infertile Mens Skin
Reprogramming Committed Murine Blood Cells to Induced Hematopoietic Stem Cells with Defined Factors
A 3D Sphere Culture System Containing Functional Polymers for Large-Scale Human Pluripotent Stem Cell Production
3D In Vitro Model of a Functional Epidermal Permeability Barrier from Human Embryonic Stem Cells and Induced Pluripotent Stem Cells
Photo Reference: Courtesy of Dr. Kevin Eggan
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