SOCIETY FOR INHERITED METABOLIC DISORDERS

2005 ANNUAL MEETING

Asilomar Conference Center

Pacific Grove, California

March 6-9, 2005

PROGRAM

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SUNDAY  MARCH  6th

1:00-6:30pm

PHOEBE A. HEARST HALL

Registration

3:00pm

PHOEBE A. HEARST HALL

Room check in

2:00-5:00

SANDERLING

Board of Directors meeting

6:00 - 7:00

CROCKER DINING HALL

WELCOME DINNER

7:30 -10:00

SEASCAPE  IN CROCKER HALL

OPENING RECEPTION

MONDAY  MARCH  7th

 

7:00-8:00

DINING HALL

BREAKFAST

 

8:00-12:00

CHAPEL

Registration

 

8:00-12:15

CHAPEL

LYSOSOMAL  STORAGE  DISORDERS    

Gregory Grabowski, MD  (Moderator)
Children’s Hospital Med. Center, Cincinnati

8:00 - 8:45

 

Newborn Screening for LSD’s 

C. Ronald Scott, MD
University of Washington

8:45 - 9:30

 

Substrate Deprivation Therapy

Marc C. Patterson, MD
Columbia University

9:30-10:15  

 

Enzyme Replacement/ Enhancement Therapy for LSD’s

Robert Desnick, PhD, MD
Mt. Sinai School of Med.

10:15-10:45

HEATHER

BREAK  

10:45 -11:30

 

Prospects for Gene Therapy for Treatment of LSD’s

Seng Cheng, PhD
Genzyme Corporation, Cambridge, MA

11:30 -12:15

 

Hematopoietic Stem Cell Transplantation       for Treatment of LSD’s

Charles Peters, MD 

University of Minnesota

12:15 -1:30

DINING HALL

LUNCH

1:30 -5:45

CHAPEL

CONTRIBUTED PAPERS

Brendan Lee, MD (Moderator)
Baylor College of Medicine
  1:30 -1:45

Pharmacological rescue of mutant OCTN2 carnitine transporters in primary carnitine deficiency

Cristine Amat di San Filippo
University of Utah
  1:45-2:00 Newborn Screening for MPS I and Pompe disease: a Pre-Pilot Study

Gabriela Niizawa
FESEN, Buenos Aires
  2:00-2:15 New Acyl-CoA Dehydrogenases: Redefining Long Chain Fatty Acid Catabolism in Humans

Miao He
University of Pittsburgh Medical Center
  2:15-2:30 Unraveling Lysosome-Related Organelle Biogenesis Through the Cell Biology of Hermansky-Pudlak Syndrome

Amanda Helip-Wooley
NIH
  2:30-2:45 Hereditary Inclusion Body Myopathy is caused by defective sialic acid biosynthesis

Susan Sparks
NIH
  2:45-3:00 Improving the Diagnosis of Mitochondrial Respiratory Chain Defects via Skin Fibroblast Analysis

Devin Oglesbee
Mayo Clinic
  3:00-3:15 High prevalence of SLC6A8 deficiency

E.H. Rosenberg
VU University Medical Center

3:15 - 4:00

HEATHER

BREAK (Visit Exhibits)

4:00 -5:45

 CHAPEL

CONTRIBUTED PAPERS – Oral presentations from Travel Award Winner

Brendan Lee, MD, Ph.D. (Moderator)
Baylor College of Medicine
  4:00-4:15 Molecular Analysis of AASS And Re-Evaluation of Phenotype In Familial Hyperlysinemia (FH)

Na Mee Kim
Johns Hopkins Medical Center
  4:15-4:30 Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxy acyl CoA dehydrogenase (LCHAD) deficiency

Melanie Gillingham
Oregon Health & Science University
  4:30-4:45 N-acetylglutamate synthase and regulation of ureagenesis

Ljubica Caldovic
Children’s National Medical Center
  4:45-5:00 Very long chain fatty acid synthesis in Refsum and infantile Refsum disease fibroblasts

Derek Wong
University of California Los Angeles
  5:00-5:15 Natural History and Therapy of Alkaptonuria

Pim Suwannarat
NIH
  5:15-5:30 Genetic and Genomic Systems to Study Methylmalonic Acidemia (MMA)

Charles P. Venditti
NIH
  5:30-5:45 Studying RNA instability mutations via a novel model using a BAC clone

Angela Eeds
Vanderbilt University Medical Center

6: 30

 

Bus leaves for Chateau Julian Vineyard

7:00 -10:00

 

PRESIDENTIAL RECOGNITION DINNER AT CHATEAU JULIAN VINEYARD

TUESDAY   MARCH 8th 

7:00-8:00

DINING HALL

BREAKFAST

 

8:00 -12:00 

CHAPEL

INBORN ERRORS OF METABOLISM  & THE CENTRAL  NERVOUS  SYSTEM

Annette Feigenbaum, MD,  Moderator
Hospital for Sick Children, Toronto, Canada

8:00 - 8:45  

 

Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter      

Raffi Schiffman, MD
National Institute of Neurological Disorders and Stroke

8:45 -9:30

 

Disorders of Purine and Pyrimidine Metabolism 

William Nyhan,  MD
UCSD, San Diego

9:30 -10:15

 

Pediatric Neurotransmitter Disorders     

Kathryn Swoboda, MD
University of Utah

10:15 -10:45

HEATHER

BREAK

 

10:45 -11:30

 

LSDs caused by deficiency of components of the PPCA/NEU1/b-GAL enzyme complex

Alessandra D’Azzo, PhD
St. Jude’s Children’s Research Hospital  

11:30 -12:15

 

The Neuroimaging Approach to Inborn Errors of Metabolism

Susan Blaser, MD
Hospital for Sick Children, Toronto

12:15-1:00 

 

LUNCH

 

1:00 -4:00

FREE TIME

Exhibits and posters open for viewing

 

4:00 -6:00

HEATHER

Attended Poster Session with

authors present.  Wine and beer served

 

5:00 -6:00

HEATHER

“Ask the Experts” Session        

Panel of experts available in to review unknown or complex clinical cases or unusual laboratory findings.

Richard Kelley, MD

Stephen I. Goodman, MD

Gregory Grabowski, MD

6:00 -7:15

DINING HALL

DINNER

7:30   

CHAPEL

DONOUGH O’BRIEN PRESIDENTIAL ADDRESS    “The History of the SIMD: From Small Molecules to Metabolomics”   

LOUIS B. ELSAS, MD
First President of the SIMD

8:00  

CHAPEL

AWARD PRESENTATION

Emmanuel Shapira SIMD Award (2004 Winner).  The Emmanuel Shapira Award is given annually to the first author of the best publication submitted by an SIMD member to Molecular Genetics and Metabolism during that year.

8:15  

CHAPEL

AWARD PRESENTATION

Neil Buist Award (2005 winner).  The Neil Buist Award is given each year for the best oral presentation by a trainee at the annual meeting.  The winner will be selected by a committee of SIMD members during the course of the meeting.

8:30 -10:00

CHAPEL

SIMD Business Meeting

 

WEDNESDAY     MARCH 9th  

7:00-8:00

DINING HALL

BREAKFAST

 

8:00-10:15

CHAPEL

GLYCOGEN STORAGE DISEASE 

R. Rodney Howell, MD, Moderator
University of Miami School of Medicine

8:00 - 8:45

 

Glycogen synthase deficiency  (GSD 0)

David Weinstein, MD
Children’s Hospital, Boston   

8:45 - 9:30

 

Nutritional management of glycogen storage diseases

Joseph Wolfsdorf, MD
Children’s Hospital, Boston

9:30 - 10:15

 

Long term complications of GSD in the adolescent and adult

Priya Kishnani, MD
Duke University

10:15 -10:45

HEATHER

BREAK

 

10:45 -12:15

 

TOPICS TO EXPAND OUR HORIZONS

R. Rodney Howell, MD, Moderator
University of Miami School of Medicine
    A Biochemical Geneticist Looks at Autism Stephen Kahler, MD
Johns Hopkins University

11:30 -12:15

 

The Challenges of Providing Services to Patients with Inborn Errors of Metabolism in a Developing Country  

Aida Lemes, MD
Instituto de Genetica Medica  Montevideo, Uruguay

12:15    

DINING  HALL

BOX LUNCH

 

 

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