Program for SIMD Abstracts Issue 2005

Program for SIMD Abstracts Issue 2005

Molecular Genetics and Metabolism 84 (2005) 189–192 www.elsevier.com/locate/ymgme Program for SIMD Annual Meeting Asilomar Conference Center March 6–...

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Molecular Genetics and Metabolism 84 (2005) 189–192 www.elsevier.com/locate/ymgme

Program for SIMD Annual Meeting Asilomar Conference Center March 6–9, 2005 SUNDAY, MARCH 6 1:00–6:30 pm

PHOEBE A. HEARST HALL

Registration

3:00 pm

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 7 7:00–8:00

CROCKER Breakfast DINING HALL

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 (Visit exhibits)

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

CROCKER Lunch DINING HALL

doi:10.1016/j.ymgme.2005.01.002

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1:30–5:45

Program for SIMD Annual Meeting / Molecular Genetics and Metabolism 84 (2005) 189–192

Contributed Papers – Oral presentations from Travel Award Winners

Brendan Lee, MD, PhD (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

CHAPEL

HEATHER

Break (Visit exhibits)

4:00–5:45

Contributed Papers – Oral presentations from Travel Award Winners

Brendan Lee, MD, PhD (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

Program for SIMD Annual Meeting / Molecular Genetics and Metabolism 84 (2005) 189–192

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

Buses leave for Chateau Julian Vineyard - West Side/ Phoebe A. Hearst Hall

7:00–10:00

Presidential Recognition Dinner @ Chateau Julian Vineyard

191

TUESDAY MARCH 8 7:00–8:00

CROCKER Breakfast DINING HALL

8:00–12:00

CHAPEL

Inborn Errors of Metabolism and 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

Raphael 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 (Visit exhibits)

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

CROCKER Lunch DINING HALL

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 to review unknown or complex clinical cases or unusual laboratory findings.

6:00–7:15

CROCKER

Dinner

7:30

CHAPEL

Donough O’Brien Presidential Address ‘‘From Small Molecules to Metabolomics’’

Richard Kelley, MD Stephen I. Goodman, MD Gregory Grabowski, MD

Louis B. Elsas, MD First President of the SIMD

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Program for SIMD Annual Meeting / Molecular Genetics and Metabolism 84 (2005) 189–192

8:30

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.

8:45

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.

9:00–10:30

CHAPEL

SIMD Business Meeting

WEDNESDAY, MARCH 9 7:00–8:00

CROCKER Breakfast DINING HALL

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 (Visit exhibits)

10:45–12:15

Topics to Expand Our Horizons

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

10:45–11:30

A Biochemical Geneticist Looks at Autism

Stephen Kahler, MD, Johns Hopkins University

11:30–12:15

The Challenges of Providing Services Aida Lemes, MD, Instituto de Genetica to Patients with Inborn Errors of Medica Montevideo, Uruguay Metabolism in a Developing Country

12:15

CROCKER Box Lunch DINING HALL