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Innehåll tillhandahållet av n-Lorem Foundation and N-Lorem Foundation. Allt poddinnehåll inklusive avsnitt, grafik och podcastbeskrivningar laddas upp och tillhandahålls direkt av n-Lorem Foundation and N-Lorem Foundation eller deras podcastplattformspartner. Om du tror att någon använder ditt upphovsrättsskyddade verk utan din tillåtelse kan du följa processen som beskrivs här https://sv.player.fm/legal.
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Clinical Trials for One Patient

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Manage episode 333634217 series 3349924
Innehåll tillhandahållet av n-Lorem Foundation and N-Lorem Foundation. Allt poddinnehåll inklusive avsnitt, grafik och podcastbeskrivningar laddas upp och tillhandahålls direkt av n-Lorem Foundation and N-Lorem Foundation eller deras podcastplattformspartner. Om du tror att någon använder ditt upphovsrättsskyddade verk utan din tillåtelse kan du följa processen som beskrivs här https://sv.player.fm/legal.

In this episode, Stan talks to Dr. Joe Gleeson about the role of genetics in neurology and pediatric patients with neurological conditions. Early in his training, Dr. Gleeson realized how prevalent it was that pediatric patients, especially those with neurological disorders, never received a diagnosis. Furthermore, in over half of these patients he felt that there were underlying genetic mutations causing these disorders. With the advent of genomic sequencing, now many of these mutations are identified, however few have any therapeutic options available. In this episode, the role of a genotype to define a phenotype is outlined and the need to shift our therapeutic approaches to be more action-orientated and addressing the underlying genetic cause not the symptoms. This requires a technology, like antisense, that is able to target a specific gene mutation. When asked why n-Lorem, Dr. Gleeson expresses significant optimism that n-Lorem will be able to address a number of these previously untreatable patients. Just diagnosing patients and treating symptoms is not enough, to make a meaningful impact on these patients, more needs to be done. Through n-Lorem many patients will now have the chance.

  continue reading

48 episoder

Artwork
iconDela
 
Manage episode 333634217 series 3349924
Innehåll tillhandahållet av n-Lorem Foundation and N-Lorem Foundation. Allt poddinnehåll inklusive avsnitt, grafik och podcastbeskrivningar laddas upp och tillhandahålls direkt av n-Lorem Foundation and N-Lorem Foundation eller deras podcastplattformspartner. Om du tror att någon använder ditt upphovsrättsskyddade verk utan din tillåtelse kan du följa processen som beskrivs här https://sv.player.fm/legal.

In this episode, Stan talks to Dr. Joe Gleeson about the role of genetics in neurology and pediatric patients with neurological conditions. Early in his training, Dr. Gleeson realized how prevalent it was that pediatric patients, especially those with neurological disorders, never received a diagnosis. Furthermore, in over half of these patients he felt that there were underlying genetic mutations causing these disorders. With the advent of genomic sequencing, now many of these mutations are identified, however few have any therapeutic options available. In this episode, the role of a genotype to define a phenotype is outlined and the need to shift our therapeutic approaches to be more action-orientated and addressing the underlying genetic cause not the symptoms. This requires a technology, like antisense, that is able to target a specific gene mutation. When asked why n-Lorem, Dr. Gleeson expresses significant optimism that n-Lorem will be able to address a number of these previously untreatable patients. Just diagnosing patients and treating symptoms is not enough, to make a meaningful impact on these patients, more needs to be done. Through n-Lorem many patients will now have the chance.

  continue reading

48 episoder

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