Genetic Diseases: Diagnosis and Treatment
  Wednesday, 5 April, 08:15 - 09:30

Session Organizers:
Arend Heerschap and Linda Chang
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 the potentials of MR to characterize the phenotype of these animals.
Program:
08:15 Interfaces of Genetic Diagnosis and Treatment with Imaging Methods
Arthur S. Beaudet, Baylor University, Houston, Texas, USA
08:40 MRI/MRS of Genetic Brain Diseases
Marjo S. van der Knapp, Free University Hospital, Amsterdam, The Netherlands
09:05 The Role of MR in Transgenic Animal Models
Alan Koretsky, National Institutes of Health, Bethesda, Maryland, USA

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