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  "documentTitle": "See the 18-slide pitch deck a genetics startup used to raise $100 million and explore the 'dark side' of the genome",
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  "authorName": "CAMP4",
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  "notes": "Includes a scientific diagram of SCN1A protein structure and mutation sites.",
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      "text": "SCN1A mutations leading to Dravet syndrome diagram",
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      "text": "Dravet Syndrome is a haploinsufficiency disease caused by mutations in one of the two SCN1A alleles\nPresents as a seizure in the first months of life; characterized by intractable seizures and eventual developmental delays and cognitive impairment\nA 2-fold upregulation would be expected to bring SCN1A mRNA levels to normal; even a more moderate increase could confer therapeutic benefit\nAgnostic of the specific mutation because the effect is carried by upregulation of the wild-type allele",
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      "text": "patient population: 20k",
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      "text": "Sun et al, JHG, 2010",
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      "text": "Dravet Syndrome is a rare, monogenetic epilepsy affecting 20k patients in the EU and USA",
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