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

    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
  • FREE

    Present and emerging strategies in the medical management of Hunter syndrome

    Activity Description / Statement of Need:

    Mucopolysaccharidoses (MPS) are a group of genetic diseases characterized by a deficiency of lysosomal enzymes responsible for the hydrolysis of glycosaminoglycans (GAGs), whose manifold biological roles contribute to a variety of clinical manifestations in patients presenting with MPS. MPS has seven different subcategories, of which Hunter syndrome, an X-linked recessive genetic disease, is MPS II. The syndrome is characterized by a deficiency in iduronate 2-sulfatase, which results in relatively high levels of the GAGs heparan and dermatan sulfate, leading to physical signs similar to MPS I, with the addition of aggressive behavior and developmental delay. The major complications of Hunter syndrome have to do with its widespread and varied symptoms. The nature of this disease is that multiple organ systems are impacted simultaneously, considerably decreasing patient quality of life. The most common symptoms are facial disfigurements, hepatosplenomegaly, and skeletal joint stiffness, but presentation can fluctuate widely between patients.

    This accredited educational activity would identify the critical components of the management process and offer solutions to close gaps in diagnosis and care, with the ultimate goals being the improvement of Hunter’s disease management, treatment adherence,  and health and cost outcomes. 

    Target Audience:

    Pediatricians, neurologists, endocrinologists, and primary care physicians; physician assistants, nurse practitioners, and pharmacists; and any other HCPs with an interest in or who may clinically encounter patients with Hunter syndrome.

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    • Cost: Free
    • Credit hours: 1
    • CME credits awarded by: ScientiaCME
    • Format: On-Demand Online
    • Material last updated: 02/23/2022
    • Expiration of CME credit: 02/23/2023
  • FREE

    Gaucher disease: Though Very Rare, Why You Should Care – Updates and emerging medical management strategies in Gaucher disease

    Activity Description / Statement of Need:

    In this online, self-learning activity:

    Gaucher disease (GD) 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. GD is subcategorized based on clinical features: type 1 GD is the non-neuronopathic form and affects mainly the inner organs, while types 2 and 3 are the acute and sub-acute neuropathic forms, whose pathology manifests predominantly within central nervous system. GD has an estimated prevalence of 0.70 to 1.75 per 100 000 in the general population, it affects individuals of Ashkenazi Jewish heritage in significantly higher numbers. One of the first of GD’s 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.

    This learning activity has been designed to bring healthcare professionals’ knowledge of the strategies for treatment and management of GD up to date and to improve their competence and performance in treating it.

    Target Audience:

    The following healthcare professionals: Pediatricians, neurologists, endocrinologists, and primary care physicians; physician assistants and nurse practitioners in those areas of specialty; pharmacists who practice in specialty pharmacies that treat patients with rare diseases; and any other healthcare professionals with an interest in or who may clinically encounter patients with GD.

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    • Cost: Free
    • Credit hours: 1.25
    • CME credits awarded by: ScientiaCME
    • Format: On-Demand Online
    • Material last updated: April 06, 2022
    • Expiration of CME credit: April 06, 2024
  • FREE

    Updates in care and improving the healthcare experience of patients with mucopolysaccharidosis I (MPS I)

    Activity Description / Statement of Need:

    In this online, self-learning activity:

    Mucopolysaccharidoses (MPS) are a group of genetic diseases characterized by a deficiency of lysosomal enzymes responsible for the hydrolysis of glycosaminoglycans (GAGs), resulting in a variety of clinical manifestations in patients presenting with MPS. MPS has several subcategories, and MPS type I (MPS I) arises from the inheritance of an alteration in the IDUA gene, which encodes for alpha-L-iduronidase. Affecting an estimated one in 100,000 live births, MPS I is categorized as either attenuated MPS I (also known as Scheie or Hurler-Scheie syndromes) or severe MPS I with cognitive impairment (also known as Hurler syndrome).

    Progressive in nature, MPS I is associated with multi-organ complications and sequelae. Patients exhibit a spectrum of clinical presentations, including facial deformities, organomegaly, cognitive impairments, upper airway obstructions, skeletal deformities, and cardiomyopathy. The burden of MPS I is considerable, with reports of caregivers contributing 51 hours per week on average to help patients perform daily activities of living. Quality of life for patients and their caregivers is significantly reduced with MPS I, affecting the social, emotional, and financial well-being of a family. It is reported that parents fear for their child’s delayed language acquisition, ability to fit in amongst peers and the society, fear of the expense for the necessary care, and fear for the death of a child from obstructive sleep apnea.

    This learning activity has been designed to bring HCPs’ knowledge of the strategies for treatment and management of MPS I up to date and to improve their competence and performance in treating it.

    Target Audience:

    The following HCPs: Pediatricians, neurologists, endocrinologists, genetic disease specialists; physician assistants, nurse practitioners, and pharmacists in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with MPS I.

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    • Cost: Free
    • Credit hours: 1
    • CME credits awarded by: ScientiaCME
    • Format: On-Demand Online
    • Material last updated: 07/24/2022
    • Expiration of CME credit: 07/24/2024