- Email: [email protected]
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 6–9, 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
190
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
192
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
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
190
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
192
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