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Genetics Clinical Grand Rounds - Rare Disease Day Speaker Series 2022: Homocystinuria

Needs assessment:

Teaching about genetic metabolic disease is poor in medical school and postgraduate training. This interferes with patients receiving a diagnosis and access to potential effective therapies.

Learning Objectives:

1. Outline a metabolic differential diagnosis for homocysteinemia.

2. Review some important points about the diagnosis and management of cystathionine-beta-synthase deficiency.

3. Describe some real-life challenges facing patients with homocystinuria and their families.

Speakers

  • VMP Genetics, LLC

    Mark Korson, MD
    Director of Physicisan Support, and Director of Education
  • HCU Network America

    Danae Bartke
    Executive director and co-founder

Contact

Host

Host Organization

Admission

Free

Tag

Grand Rounds

Next upcoming occurrence of this event