Genetic Diseases: Diagnosis and Treatment

08:15 – 09:30

Chairs: Linda Chang and Arend Heerschap

Educational Objectives

Upon completion of this session, participants should be able to:

  • Describe the role of imaging methods in general in the diagnosis and treatment evaluation of genetic diseases.
  • Identify MRI and MRS parameters of particular usefulness to characterize inherited metabolic brain diseases.
  • Describe some cases of these diseases where unambiguous diagnosis is possible on the basis of MRI and/or MRS approaches.
  • Explain how the study of transgenic animals with missing or modified proteins may help understand the nature of genetic diseases.
  • Describe what the potentials of MR are to characterize the phenotype of these animals.
08:15   277.  Interfaces of Genetic Diagnosis and Treatment with Imaging Methods, Arthur S. Beaudet, Baylor College of Medicine, Houston, TX, USA.
08:40   278.  MRI and MRS of Genetic Brain Diseases, Marjo S. van der Knaap, Free University Hospital, Amsterdam, The Netherlands.
09:05   279.  The Role of Magnetic Resonance in Transgenic Animal Models, Alan Koretsky, National Institutes of Health, Bethesda, MD, USA.

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