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Tag: genetic disorders

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3 posts found
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Jun 01, 2021
acx
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7 min 939 words 244 comments 57 likes podcast (9 min)
Scott Alexander examines the treatment for progeria and its potential implications for understanding and treating normal aging processes. Longer summary
This post discusses the implications of progeria treatments for understanding normal aging. Scott Alexander explores the recent FDA approval of lornafarnib for Hutchinson-Gilford Progeria Syndrome and its potential relevance to normal aging processes. He explains the cellular mechanisms behind progeria, involving defective lamin A protein production, and how this leads to accelerated aging through DNA damage accumulation. While initially concluding that lornafarnib might not help prevent normal aging, Scott then presents research suggesting that similar protein defects might play a role in normal aging processes. The post ends with uncertainty about the extent to which these mechanisms contribute to regular aging. Shorter summary
Oct 11, 2016
ssc
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16 min 2,422 words 314 comments
Scott Alexander examines a theory linking autism and schizophrenia to human self-domestication, initially dismissing it before reconsidering its merits in light of Williams Syndrome. Longer summary
Scott Alexander discusses a theory suggesting that autism and schizophrenia are anomalies in human self-domestication. He initially dismisses the theory, pointing out inconsistencies and over-reaching comparisons. However, he then considers Williams Syndrome, which appears to fit the 'hyperdomestication' model better. Scott concludes that while autism and schizophrenia may not be exact opposites of domestication, they likely involve a biological system determining trust and sociability, which is linked to embryological development. He suggests that an embryological approach might be more fruitful in studying these conditions. Shorter summary
Nov 19, 2013
ssc
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15 min 2,240 words 246 comments
Scott Alexander describes his increasing hesitation to have children due to his experiences with rare genetic disorders and difficult patients in psychiatry and medicine. Longer summary
Scott Alexander discusses his growing reluctance to have children due to his experiences in medicine and psychiatry. He describes rare but severe genetic disorders like Lesch-Nyhan Syndrome, and shares his fear of having a child with such conditions. He then talks about antisocial personality disorder patients from seemingly perfect families, illustrating that good parenting doesn't guarantee a well-adjusted child. Finally, he criticizes the idea that gentle parenting can always replace discipline, drawing from his teaching experience to argue that some children simply won't cooperate without strict measures. The post ends with Scott expressing uncertainty about having children despite his desire for them. Shorter summary
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