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    Robert Hopkin

    Robert Hopkin

    Associate Professor of Clinical Pediatrics
    Cincinnati Children's Hospital Medical Center
    Co-Director, 22Q-VCFS Center
    University of Cincinnati College of Medicine
    Cincinnati, OH


    Related Videos

    Given the heterogeneity of symptoms—GI, pain, acroparesthesias, and neurological—that herald the onset of FD, what counsel can you give clinicians to test for FD and/or distinguish Fabry from other conditions that make early diagnosis challenging? Video

    Given the heterogeneity of symptoms—GI, pain, acroparesthesias, and neurological—that herald the onset of FD, what counsel can you give clinicians to test for FD and/or distinguish Fabry from other conditions that make early diagnosis challenging?

    Can you provide a synopsis of the inheritance patterns of Fabry Disease, the penetrance of target organ manifestations and symptomatology in men vs. women, and the diagnostic implications of the heterogeneity of this Fabry? Video

    Can you provide a synopsis of the inheritance patterns of Fabry Disease, the penetrance of target organ manifestations and symptomatology in men vs. women, and the diagnostic implications of the heterogeneity of this Fabry?

    What exactly are the symptomatic, age of onset, and enzymatic activity criteria that discriminate between so-called “classical” vs “non-classical” Fabry Disease? And is there a further delineation of these two groups based on gender? Video

    What exactly are the symptomatic, age of onset, and enzymatic activity criteria that discriminate between so-called “classical” vs “non-classical” Fabry Disease? And is there a further delineation of these two groups based on gender?

    What category of mutation—one that is associated with some degree of production of the alpha-galactosidase A (a-Gal A) enzyme—is amenable to the FDA-approved oral chaperone therapy, migalastat? Video

    What category of mutation—one that is associated with some degree of production of the alpha-galactosidase A (a-Gal A) enzyme—is amenable to the FDA-approved oral chaperone therapy, migalastat?

    After the diagnosis of FD has been confirmed, and genetic mutational signatures have been generated—and enzyme activity levels measured—at what age can available therapies be started? And how long should patients be treated? Video

    After the diagnosis of FD has been confirmed, and genetic mutational signatures have been generated—and enzyme activity levels measured—at what age can available therapies be started? And how long should patients be treated?

    To whom should patients with confirmed FD be referred? What is the ideal way to follow these patients? And what is the role of the clinical geneticist? Is a multi-disciplinary approach preferred? Video

    To whom should patients with confirmed FD be referred? What is the ideal way to follow these patients? And what is the role of the clinical geneticist? Is a multi-disciplinary approach preferred?

    What have long-term registries taught us about the effects of treatment on mitigating risk and/or progression of target organ deterioration—in particular, of cardiac disease, need for kidney replacement, and/or stroke—in patients with FD? Video

    What have long-term registries taught us about the effects of treatment on mitigating risk and/or progression of target organ deterioration—in particular, of cardiac disease, need for kidney replacement, and/or stroke—in patients with FD?

    What is the underlying pathobiology of this lysosomal disorder, and how does the presentation differ in men and women? Video

    What is the underlying pathobiology of this lysosomal disorder, and how does the presentation differ in men and women?

    What is your systematic line of inquiry and evaluation strategy for diagnosing Fabry Disease, both in patients who present with the classical constellation of symptoms as well as those who present in a more nuanced, non-specific manner? Video

    What is your systematic line of inquiry and evaluation strategy for diagnosing Fabry Disease, both in patients who present with the classical constellation of symptoms as well as those who present in a more nuanced, non-specific manner?

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