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The Stem Cell Podcast
Ep. 6: ALS and C9orf72 Featuring Dr. Asif Maroof
Nov 20, 2013
Dr. Asif Maroof, a post-doctoral fellow at the Harvard Stem Cell Institute specializing in ALS, delves into groundbreaking research on the C9orf72 gene linked to the neurodegenerative disease. He shares insights on how this gene affects motor neuron health and disease progression, shedding light on ALS's complexities. The discussion also touches on the importance of community engagement in scientific research, and the potential of cell-based therapies in treating neurological conditions. Expect fascinating nuggets about genetics and global health along the way!
01:05:12
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Quick takeaways
- The identification of the C9ORF72 gene is crucial in understanding the familial aspects of ALS and its neurodegenerative mechanisms.
- Dr. Maroof's research using transgenic mice reveals that C9ORF72 primarily expresses in specific neurons, highlighting its potential role in motor neuron survival.
Deep dives
Understanding ALS and C9ORF72
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease impacting motor neurons, severely affecting muscle control and movement. C9ORF72, a gene identified as significantly correlated with ALS, accounts for a substantial percentage of familial cases, highlighting its crucial role in this condition. The podcast discusses the historical context of ALS, including notable figures like Lou Gehrig, and delves into the emerging research surrounding C9ORF72, which includes hexanucleotide repeat expansions that may contribute to the disease. Understanding the mechanisms behind C9ORF72 is vital for developing treatments that could mitigate the effects of ALS on affected individuals.
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