5 Topic Commentaries

Could Omics Improve Fabry Disease Diagnosis?

Could Omics Improve Fabry Disease Diagnosis?

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  Michael H. Gelb, PhD

  Analytical chemistry, mass spectrometry, newborn screening for lysosomal storage diseases

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  University of Washington

  It’s the ultimate analytical device to find a needle in a haystack, when you know what you are looking for. — verbatim from source

  Source
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  František Tureček, PhD

  Mass spectrometry and analytical chemistry applied to biomedical screening

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  University of Washington

  Depending on the mutation, some affected individuals will develop a severe infantile form of the disease and be treated as soon as possible. — verbatim from source

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  Vandana Shashi, MD

  Medical genetics; Undiagnosed Diseases Network (UDN)

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  Duke University School of Medicine

  The network addresses the hardest of the hard cases. — verbatim from source

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  James M. Anderson, MD, PhD

  NIH program leadership; translational genomics and rare disease research coordination

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  National Institutes of Health (NIH)

  The UDN, like other NIH Common Fund programs, solves key problems in biomedical research through a high level of innovation and teamwork. By enabling collaboration among a nationwide network of top clinicians and laboratory researchers, the UDN may find clues that may be missed by individual physicians and diagnose some of the most complex medical cases. — verbatim from source

  Source
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  Sarah H. Elsea, PhD

  Biochemical genetics; untargeted metabolomics for rare disease diagnosis

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  Baylor College of Medicine

  That one ‘misspelled’ gene sequence may or may not result in a defective or less functional protein, and we need other mechanisms, such as untargeted metabolomics, to determine if that genetic change causes disease. — verbatim from source

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