Genetics CME

  • FREE

    Lysosomal Storage Disorders: Updates from recent research findings

    In this online CME self-learning program:

    Gaucher disease is characterized by a deficiency of the lysosomal enzyme glucocerebrosidase, resulting in the accumulation of sphingolipids throughout the body but most manifesting prominently in the bones. One of its first complications is the chronic anemia and a persistent bleeding risk. Another is the hepatosplenomegaly, which may be a part of the initial clinical presentation, as may the anatomical abnormalities of bone deformities and stunted growth.

    Fabry disease is characterized by a deficiency of the glycoside hydrolase enzyme alpha galactosidase A, resulting in the accumulation of the glycolipid globotriaosylceramide throughout the body, particularly prominently in the blood vessels, which ultimately leading to multi-organ dysfunction and the patient’s premature death. Early symptoms, which occur during childhood, involve pain and may include Raynaud phenomenon, paresthesias, and arthralgia in the extremities and proximal limbs, as well as impaired gastrointestinal emptying, resulting in abdominal pain, diarrhea, early satiety, postprandial bloating, nausea, and vomiting. In adulthood, the disease’s impact spreads beyond and begins to affect the cardiac and renal systems.

    Annual meetings of large, national, professional societies offer an opportunity for HCPs to get a first glimpse at study results that have the potential to impact practice as provide a forum for an exchange of ideas and practices between thought leaders and less distinguished practitioners. Nevertheless, many HCPs will be unable to attend these conferences, justifying the creation of CME that summarize the major findings presented at these major meetings.

    Target Audience:

    HCPs including: MD specialists, pediatricians, primary care physicians; geneticists; physician assistants, nurse practitioners, nurses, and pharmacists; and any other HCPs with an interest in or who may clinically encounter patients with Lysosomal Storage Disorders.

    By the end of the session the participant will be able to:

    • Recall the clinical manifestations of representative lysosomal storage disorders (LSDs).
    • Describe how enzyme replacement therapy (ERT) is being improved to address unmet therapeutic needs.
    • List emerging therapies for patients with LSDs who have previously been treated with ERTs and apply them to patient cases.
    • Discuss the findings of trials of gene replacement therapy particularly for LSDs that affect the central nervous system (CNS).
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    • Cost: Free
    • Credit hours: 2.75
    • CME credits awarded by: ScientiaCME
    • Format: On-Demand Online
    • Material last updated: 08/27/2020
    • Expiration of CME credit: 08/27/2022
  • FREE

    Hereditary transthyretin amyloidosis (ATTR) treatment strategies: best practices and emerging therapies

    Transthyretin amyloidosis (ATTR) is a progressive, multisystem, life-threatening disorder characterized by the extracellular deposition of misfolded, insoluble amyloid fibrils.

    After completing Hereditary transthyretin amyloidosis (ATTR) treatment strategies: best practices and emerging therapies physicians will better be able to:

    • Describe the pathophysiology of ATTR such that it might inform treatment mechanisms
    • Describe available therapies used for treatment of ATTR and explain current literature supporting use of those therapies
    • Design and implement an appropriate therapeutic plan for treatment of ATTR
    • Describe future therapies currently being investigated for the treatment of ATTR

    Target Audience: neurologists, cardiologists, and hematologists; physician assistants, nurse practitioners, nurses, and pharmacists in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with ATTR.

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    • Cost: Free
    • Credit hours: 0.75
    • CME credits awarded by: ScientiaCME
    • Format: On-Demand Online
    • Material last updated: March 28, 2019
    • Expiration of CME credit: March 28, 2021
  • FREE

    CME: Treatment strategies in Fabry disease

    Fabry disease is characterized by a deficiency of the glycoside hydrolase enzyme alpha galactosidase A, resulting in the accumulation of the glycolipid globotriaosylceramide throughout the body, particularly prominently in the blood vessels. A defect in the enzyme alpha galactosidase A results in glycosphingolipid accumulation, ultimately leading to multi-organ dysfunction and the patient’s premature death. Early symptoms, which occur during childhood, involve pain and may include Raynaud phenomenon, paresthesias, and arthralgia in the extremities and proximal limbs, as well as impaired gastrointestinal emptying, resulting in abdominal pain, diarrhea, early satiety, postprandial bloating, nausea, and vomiting. In adulthood, the disease’s impact spreads beyond and begins to affect the cardiac and renal systems.

    By the end of the session the participant will be able to:

    • Describe the importance of quick and accurate Fabry disease diagnosis and treatment.
    • Using established methods, determine likelihood of Fabry disease given a patient case.
    • Appropriately describe available therapies used for treatment of Fabry disease and explain current literature supporting use of those therapies.
    • Design and implement an appropriate therapeutic plan for treatment of Fabry disease.
    • Describe future therapies currently being investigated for the treatment of Fabry disease.

    Target Audience: The following healthcare professionals: cardiologists, nephrologists, pediatricians, and primary care physicians; physician assistants, nurse practitioners, nurses, and pharmacists; and any other healthcare professionals with an interest in or who may clinically encounter patients with Fabry disease.

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    • Cost: Free
    • Credit hours: 1
    • CME credits awarded by: ScientiaCME
    • Format: On-Demand Online
    • Material last updated: 9/4/19
    • Expiration of CME credit: 9/4/21
  • FREE

    Advances in the management of Fabry disease

    Fabry disease is characterized by a deficiency of the glycoside hydrolase enzyme alpha galactosidase A, resulting in the accumulation of the glycolipid globotriaosylceramide throughout the body, particularly prominently in the blood vessels. A defect in the enzyme alpha galactosidase A results in glycosphingolipid accumulation, ultimately leading to multi-organ dysfunction and the patient’s premature death. Early symptoms, which occur during childhood, involve pain and may include Raynaud phenomenon, paresthesias, and arthralgia in the extremities and proximal limbs, as well as impaired gastrointestinal emptying, resulting in abdominal pain, diarrhea, early satiety, postprandial bloating, nausea, and vomiting. In adulthood, the disease’s impact spreads beyond and begins to affect the cardiac and renal systems.

    Target Audience:

    The following healthcare professionals: cardiologists, nephrologists, pediatricians, and primary care physicians; physician assistants, nurse practitioners, nurses, and pharmacists; and any other healthcare professionals with an interest in or who may clinically encounter patients with Fabry disease.

    By the end of the session the participant will be able to:

    • Describe the pathophysiology of Fabry disease diagnosis and treatment.
    • Describe the challenges associated with diagnosis of Fabry disease.
    • List present and emerging treatment options for Fabry disease and apply them to patient cases using evidence-based medicine.
    • Describe the benefits and any applicable risks of therapeutic approaches to Fabry disease and take them into account when formulating a treatment plan for patients.
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    • Cost: Free
    • Credit hours: .75
    • CME credits awarded by: ScientiaCME
    • Format: On-Demand Online
    • Material last updated: 08/13/2020
    • Expiration of CME credit: 08/13/2022