Episodes

  • 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 mins
  • 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 mins
  • 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 mins
  • S2 Ep5: CDKL5 Deficiency Disorder

    S2 Ep5: CDKL5 Deficiency Disorder
    Aug 31 2022
    In the first episode of a 2-part Rare Disease Report, Whitney Mitchell, mother and caregiver to her 6 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah’s CDKL5 deficiency disorder (CDD) diagnosis.
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    24 mins
  • S2 Ep4: Myelodysplastic Syndromes & Acute Myeloid Leukemia

    S2 Ep4: Myelodysplastic Syndromes & Acute Myeloid Leukemia
    Jun 3 2022
    Mikkael Sekeres, MD, is no stranger to rare disease. In his own words, there are rare diseases and then there are very rare diseases. Sickle cell is a rare condition with an incidence rate of just over 100 per 100,000 people. Sekeres focuses much of his treatment on patients with bone marrow disorders like myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). These conditions have an incidence rate of approximately 5 per 100,000. In this episode he shares insight on treatment practices, clinical trial procedures and hurdles, as well as the importance of finding reliable sources for information. 
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    23 mins
  • S2 Ep3: TANGO2

    S2 Ep3: TANGO2
    Apr 28 2022
    In this hallmark episode, we discuss a condition that has only been documented in 70 cases worldwide. Dr. Amelle Shilligton is a clinical geneticist at Cincinnati Children's Hospital Medical Center. In this conversation, Ashley and Jacob Wiley share the story of how they rushed their 15 month old daughter Aislynn to that hospital, and Dr. Shillington explains how she eventually solved the mystery of Aislynn's diagnosis of TANGO2-related metabolic encephalopathy and arrhythmias. The rare genetic disorder is caused by variants in the TANGO2 gene and those with it can experience episodes of acute illness called metabolic crises. 
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    32 mins
  • S2 Ep2: Relapsing Polychondritis

    S2 Ep2: Relapsing Polychondritis
    Mar 25 2022
    For Autoimmune Disease Awareness Month, Joe Ahearn, MD, discusses relapsing polychondritis from a clinical perspective with Michael Linn, an advocate and the Vice Chair of the Relapsing Polychondritis Foundation. The team shares an exciting announcement about the partnership they've formed. 
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    24 mins
  • S2 Ep1: Adrenomyeloneuropathy & Gene Therapy

    S2 Ep1: Adrenomyeloneuropathy & Gene Therapy
    Feb 28 2022
    Our first episode back features Karen Kozarsky, PhD, an expert on gene therapy and adrenomyeloneuropathy (AMN). She has an in-depth discussion with our new host Giuliana Grossi about what the future might hold for AMN treatment.
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    30 mins