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