Genetics CME

  • 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