SOCIETY FOR INHERITED METABOLIC DISORDERS
2004 ANNUAL MEETING
The Peabody Orlando
Orlando, Florida
March 7-10, 2004
PROGRAM:
| DAY 1: | SUNDAY, MARCH 7 |
| 10am – 6:30pm | REGISTRATION, Peabody Hotel (by West Entrance) |
| 12:30pm | Buses will transport registrants from the Peabody to the Gaylord Palms Resort for Joint Symposium with the American College of Medical Genetics |
| 1:30 – 4:30PM | ACMG-SIMD
JOINT SYMPOSIUM, Gaylord Palms Resort Moderators: Barbara K. Burton, MD and Elaine Spector, PhD |
| 1:30 – 2:00 | Enzyme
Replacement Therapy for Lysosomal Storage Disorders Joseph Muenzer, MD, PhD, University of North Carolina at Chapel Hill |
| 2:00 – 2:30 | Human
GeneTherapy - Risks and Benefits Christof v. Kalle, MD, Cincinnati Children’s Hospital Research Foundation |
| 2:30 – 3:00 | BH4
Therapy for Phenylketonuria Nenad Blau, PhD, University Children’s Hospital, Zurich, Switzerland |
| 3:00 – 3:30 | Break |
| 3:30 – 4:00 | Acylcarnitine
Analysis in Clinical Practice Dietrich Matern, MD, Mayo Clinic and Foundation |
| 4:00 – 4:30 | New
Neurometabolic Disorders including Creatine Disorders Johan van Hove, MD, University of Colorado Health Science Center |
| 4:45 | Buses to transport registrants back to Peabody Hotel (meet outside Convention Center) |
| 7 - 10 PM | OPENING
RECEPTION, Peabody Hotel Sponsored by Ucyclyd Pharma |
| DAY 2: | MONDAY, MARCH 8 |
| 7:00 - 8:00 | BREAKFAST Peabody Hotel (Included in registration) |
| 8:00 - 12:15 | NEUROGENETICS Joel Charrow, MD Children’s Memorial Hospital, Chicago |
| 8:00 - 8:45 | Neuronal
Ceroid Lipofuscinosis Krystyna Wisniewski, MD, PhD, NY State Institute for Research for Developmental Disabilities |
| 8:45 - 9:30 | Alexander
Disease Albee Messing, VMD, PhD, University of Wisconsin at Madison |
| 9:30 - 10:15 | Dopa-Responsive
Dystonia Yoshiaki Furukawa, MD, Centre for Addiction and Mental Health, Toronto |
| 10:15 - 10:45 | Break |
| 10:45 - 11:30 | Pelizaeus-Merzbacher
and other PLP-Related Disorders James Garbern, MD, PhD, Wayne State University, Detroit |
| 11:30 - 12:15 | Gaucher
Disease Ellen Sidransky, MD, National Institute of Mental Health and Medical Genetics Branch, NHGRI |
| 12:15 - 1:30 | LUNCH (Offered as an option for purchase to meeting registrants) |
| 1:30 - 2:00 | SPECIAL
GUEST SPEAKER Marlene E. Haffner, MD, MPh, Director, Office of Orphan Products Development Food and Drug Administration. “Developing Treatments for Inborn Errors: Incentives Available to the Clinician” |
| 2:00 - 5:30 | CONTRIBUTED
PAPER SESSION Stephen I. Goodman, MD, University of Colorado Health Science Center Topics and presenters will be dependent on the abstracts submitted. A total of 12 papers will be presented. Presentations will be 10 minutes with 5 minutes for questions and discussion. There will be a 30 minute break during the session. |
| 6:30 | DINNER (Offered as an option for purchase to meeting registrants) |
| 7:30 | Board of Directors Meeting |
| DAY 3: | TUESDAY, MARCH 9 |
| 7:00 - 8:15 | BREAKFAST, Peabody Hotel (Included in registration) |
| 8:15 - 12:00 | NEWBORN
SCREENING / TANDEM MASS SPECTROSCOPY Piero Rinaldo, MD, Moderator, Mayo Clinic and Foundation |
| 8:15 - 8:50 | Short
Chain Acyl CoA Dehydrogenase Deficiency: What is It? How Should We
Diagnose and Treat It? Dietrich Matern, MD, Mayo Clinic and Foundation |
| 8:50 - 9:25 | Glutaric
Acidemia type I: Treatment and Outcome Kevin Strauss, MD, Clinic for Special Children, Strasburg, PA |
| 9:25 - 10:00 | Diagnosis
and Management of New Inborn Errors of Metabolism Identified through
Tandem Mass Spectroscopy Dwight Koeberl, MD, Duke University Medical Medical Center |
| 10:00 - 10:30 | Break |
| 10:30 - 11:05 | Spectrum
of Fatty Acid Oxidation Disorders Post Newborn
Screening Arnold Strauss, MD, Vanderbilt University Medical Center |
| 11:05 - 11:40 | Error
Prevention in the Prenatal Diagnosis of Disorders of Organic Acid and
Fatty Acid Metabolism Piero Rinaldo, MD, PhD, Mayo Clinic and Foundation |
| 11:40 - 12:00 | Open Discussion of Issues Related to Newborn Screening |
| Afternoon Free to Enjoy Activities in the Orlando Area | |
| 7:00 - 8:30 | DONOUGH
O’BRIEN PRESIDENTIAL ADDRESS & Business Meeting of the SIMD Mendel Tuchman MD, President SIMD Children’s National Medical Center and The George Washington University |
| 8:30 - 10:00 | POSTER SESSION (with refreshments) |
| DAY 4: | WEDNESDAY, MARCH 10 |
| 7:00 - 8:00 | BREAKFAST, Peabody Hotel (included in registration) |
| 8:00 - 9:30 | NEW
INSIGHTS ON FAMILIAR DISORDERS Greta Seashore, MD, Moderator, Yale University School of Medicine |
| 8:00 - 8:45 | PKU
is a Problem in Biology Charles Scriver, MD, McGill University, Montreal |
| 8:45 - 9:30 | The
Relationship between Metabolic Muscle Disorders and Cholesterol- Lowering
Drugs Georgirene Vladutiu, PhD, Women’s and Children’s Hospital of Buffalo |
| 9:30 - 10:00 | Break |
| 10:00 - 12:00 | NUTRITIONAL
ISSUES RELATED TO INBORN ERRORS OF METABOLISM Rani H. Singh, PhD, RD, Moderator |
| 10:00-10:30 | Methods
of Evaluating Protein Status in Patients with Inborn Errors of Metabolism Phyllis Acosta, PhD, RD, Ross Products Division, Abbott Laboratories |
| 10:30-11:00 | MCAD
Deficiency: Diagnosis and Management. The North Carolina Experience. Diane Frazier, PhD, MPH, RD, University of North Carolina at Chapel Hill |
| 11:00-11:30 | D/G
Galactosemia: To Treat or Nor to Treat? Rani H. Singh, PhD, RD, Emory University School of Medicine |
| 11:30-12:00 | Models
of Transitions from Pediatric to Adult Care Christine Trahms, MS, RD, University of Washington |
| 12:00 | Meeting Adjourned |