Rare Disease Report

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  • Resumen

  • Hosted by HCPLive, the monthly series tackles the intricate details of the 6,000-plus known rare diseases, featuring an expert guest, one disease at a time.
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Ciencia Enfermedades Físicas Hygiene & Healthy Living
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Episodios
  • S2 Ep8: The FDA Decision for Pompe Disease Therapy

    S2 Ep8: The FDA Decision for Pompe Disease Therapy
    Oct 28 2022
    The FDA is expected to announce the final decision for the dual therapy AT-GAA, which uses miglustat in combination with cipaglucosidase alfa for treating Pompe disease, an inherited and often times fatal disorder. Expert Barry Byrne discusses the characteristics of the condition and what this FDA decision will mean for treatment.
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    13 m
  • S2 Ep7: Newborn Screening Awareness & Novel Diagnostic Tool

    S2 Ep7: Newborn Screening Awareness & Novel Diagnostic Tool
    Oct 10 2022
    In the wake of Newborn Screening Awareness Month, this episode dives into a novel diagnostic precision medicine guidance tool called BeginNGS. Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases. As representatives from collaborating partners Inozyme Pharma and Rady Children's Institute that created this tool, they explain the impact that BeginNGS can have on the future of rare disease medicine.
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    21 m
  • S2 Ep6: CDKL5 Deficiency Disorder Expert Interview

    S2 Ep6: CDKL5 Deficiency Disorder Expert Interview
    Sep 2 2022
    The second episode of the 2-part Rare Disease Report shifts to a clinical perspective with the expertise of Dr. Pestana, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute who treats patients with CDKL5 deficiency disorder (CDD).
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    19 m
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