Annual Meeting: March 9 - 12, 2014
Asilomar Conference Center, Pacific Grove, California

The 2014 annual meeting of the SIMD was held at the Asilomar Conference Center in Pacific Grove, California, from Sunday, March 9th to Wednesday, March 12th, 2014.

Outline of sessions:

  • Session 1 Metabolic testing in the post human genome project era
    •  Modern Approaches to Metabolic Testing
    •  Molecular Testing in the Metabolic Pool
    •  Diagnosing CDGs: Beyond Isoelectric focusing
    •  Whole exome testing: What to do with suspected metabolic genes
    •  Follow up of VUS: role of cell culture, iPSC
  • Session 2 Purine and pyrimdine metabolism
    •  Pathophysiology and Biochemistry of Purine and Pyrimidine Metabolism
    •  Lesch Nyhan Disease: An Historical Perspective and Update
    •  Diagnostic testing for Purine- and Pyrimidine-Related Intellectual Disability
    • Purine and Pyrimidine Nucleoside Synthesis, Recycling and Transport Defects
  • Session 3 Travel Award Winners and Invited Abstracts
  • Session 4 Poster Session and Exhibits
  • Session 5 Fifty Years of Newborn Screening: Where Are We Now and How Did We Get Here?
    • The Realpolitik of Newborn Screening
    • Dietary treatment for NBS disorders
    • Do Wilson and Jungner Still Matter?
  • Session 6 Fifty Years of Newborn Screening: Where Are We Going?
    • Collecting the data - NBSTRN, RedCap and Regional Databases
    • The Future for NBS: is it –omics?
    • Role of the SIMD in Guiding Future Directions for NBS
    • The Robert Guthrie Memorial Lecture: How Newborn Screening Moves Forward
  • Session 7 The brain in IEMs
    • Inborn errors of creatine and serine synthesis
    • GABA and mitophagy: Novel Pathomechanisms in Disorders of GABA Metabolism
    • D-2-Hydroxyglutaric Aciduria
    • Diagnosis and Discovery of Treatable Inborn Errors of Metabolism causing Intellectual Disability
  • Session 7 The brain in IEMs (continued)
    • Role of Inflammation in Brain Injury During Metabolic Decompensation
    • Avoiding Brain Injury in GA1
    • Neuroprotection During Acute Metabolic Decompensation