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Annual Meeting Agenda - 2012

New England Consortium of Metabolic Programs
Annual Meeting
October 12, 2012

Revolutions in Detection, Treatment and Follow-up of Metabolic Disorders

9:00-9:30 am: Registration and Tour of Industry Exhibits

9:30-9:45 am: Introduction – Susan Waisbren, PhD, Children’s Hospital Boston

9:45-10:30 am: Brief Reports – Part I

  • Consortium website updates – Freedom Baird, MS
  • New England Genetics Collaborative and GEMSS – Monica McClain, PhD and Leah Burke, MD
  • New England Connection for PKU and Allied Disorders – Fran Rohr, MS, RD, LDN

10:30-11:15 am: Keynote Address – Enzyme Substitution Therapy with PEGylated Phenylalanine Ammonia Lyase: Historical Steps, Current Efforts and Future Prospects – Christineh Sarkissian, PhD

11:15-11:30 am: Experience of a PEG-PAL study subject – Brittany Holmes

11:30-11:45 am: Break and Tour of Industry Exhibits

11:45-12:15 pm: Brief Reports Part II

  • Maternal PKU Study – Harvey Levy, MD and Fran Rohr, MS, RD, LDN
  • Brain and Neuro-Functioning in Adults with Galactosemia – Penny Greenstein, MD and Susan Waisbren, PhD

12:15-1:15 pm: Lunch and Tour of Industry Exhibits

1:15-1:45 pm: Reports from State Public Health Department Representatives on Newborn Screening and Interesting Activities

1:45-2:15 pm: Brief Reports Part III

  • Medical Home and Transition Resource Center – Carl Cooley, MD
  • Carbaglu study – Laurel Calderwood, MS, CGC

2:15-3:15 pm: Group Discussion

  • Nutrition
  • Medical/Public Health
  • Outreach and Transition

3:15-3:30 pm: Wrap-up and Evaluations