SOCIETY
FOR INHERITED METABOLIC DISORDERS
2002 ANNUAL MEETING
Asilomar Conference Center
800 Asilomar Blvd.
Pacific Grove, CA 93950
March 3-6, 2002
Scientific and Social Program:
Sunday,
March 3 |
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2:00-6:00 PM | Registration – Administration Building | |||
3:00-6:00 PM | Board of Directors Meeting – Dolphin Room | |||
6:00-7:00 PM | Dinner – Crocker Dining Hall | |||
7:00-10:00 PM | Opening Reception- Chapel | |||
Monday,
March 4 |
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7:30-8:15
AM |
Breakfast – Crocker Dining Hall | |||
8:15 AM-12:30 PM | Structural Biology and the Inborn Errors of Metabolism | Jerry Vockley, M.D., Ph.D., Chair. | ||
8:15-9:00 | The Three-Dimensional Structure of Mevalonate Kinase: An Evaluation of V377I as the Molecular Basis for HIDS/Periodic Fever Syndrome | Jung-Ja Kim, Ph.D., Medical College of Wisconsin | ||
9:00-9:45 | Structural implications of mutations in ornithine transcarbamylase in OTC deficiency | Mendel Tuchman, M.D., National Children’s Hospital | ||
9:45-10:15 | Break | |||
10:15-11:00 | New technologies to study structure/function relationships in the proteomics era | Jerry Vockley, M.D., Ph.D., Mayo Clinic and Foundation | ||
11:00-11:45 | Three-dimensional structure of mitochondria. | Carmen Mannella, Ph.D., Wadsworth Center | ||
12:00-1:00 PM | Lunch |
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Slide preview room | Dolphin (open during sessions only | |||
1:00-5:30 | Short
Oral Presentations including travel award winners. |
Bruce Barshop, M.D., Ph.D., Chair. |
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1:00-1:15 |
Musculoskeletal manifestations of Hurler Syndrome: Long-term follow-up after bone marrow transplantation. |
Jason S. Weisstein, M.D., MPH, University of California, San Francisco | ||
1:15-1:30 |
The molecular basis of type III 3-methylglutaconic aciduria. |
Yair Anikster, M.D. National Institute of Child Health and Human Development, National Institutes of Health | ||
1:30-1:45 |
Cloning and expression of the mouse N-acetylglutamate synthase gene. |
Ljubica Caldovic, Ph.D. Children’s National Medical Center | ||
1:45-2:00 |
The frequency of short-chain acyl-CoA dehydrogenase (SCAD) gene variants in the general population and correlation with the butyrylcarnitine concentration in newborn blood spots. |
Narasimhan Nagan, Ph.D. Mayo Clinic and Foundation | ||
2:00-2:15 |
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. |
Ute Spiekerkoetter, M.D. Vanderbilt University | ||
2:15-2:30 |
Creatine transporter defect: a new disorder with a relatively high incidence? |
Gajja Salomons, Ph.D. VU University Medical Center, Amsterdam | ||
2:30-2:45 |
Identification of creatine transporter deficiency in a large X-linked mental retardation (XLMR) family. |
Tim C. Wood, Ph.D. Greenwood Genetic Center | ||
2:45-3:00 |
Whole cell [2-14C] pyruvate oxidation as a diagnostic indicator of mitochondrial complex I dysfunction. |
Carla D. Cuthbert, Ph.D. The Hospital for Sick Children | ||
3:00-3:30 | Break |
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3:30-3:45 |
Screening for purine and pyrimidine disorders by tandem mass spectrometry. |
Murray Potter, University of British Columbia | ||
3:45-4:00 |
Gene Knockout Mouse Model For Carnitine Palmitoyltransferase 1a (Liver) Deficiency. |
Lara R. Nyman, M.S. University of Alabama at Birmingham | ||
4:00-4:15 |
Cloning, expression and characterization of human mitochondrial ornithine transporter. |
Hiroki Morizono, Ph.D. Children’s National Medical Center | ||
4:15-4:30 |
Rapid screening for mucopolysaccharidoses using tandem mass spectrometry. |
David S. Millington, Duke University Medical Center | ||
4:30-4:45 |
P Safety and efficacy of recombinant human acid alpha-glucosidase (RHGAA) in patients with classical infantile Pompe Disease: Preliminary 3 month data from a phase 2 study. |
riya Kishnani, M.D. Duke University Medical Center | ||
4:45-5:00 |
Gene knockout mouse model for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. |
Philip Wood, DVM, Ph.D. University of Alabama at Birmingham | ||
5:00-5:15 |
The laboratory diagnosis of mitochondrial disease: a 16-year experience. |
Georgirene D. Vladutiu, Ph.D. University at Buffalo School of Medicine | ||
6:00-7:00 | Dinner |
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7:30-10:00 | SIMD
Business Meeting |
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Tuesday,
March 5 |
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7:30-8:15 | Breakfast |
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8:15-12:00 | Nutritional Issues in Inborn Errors of Metabolism. | Steven Yannicelli, RD, Ph.D., and Rani Singh, Ph.D. Chairs. | ||
8:15 - 8:45 | Fatty acid status of children with PKU treated in the US. | Phyllis Acosta, Dr.PH, Ross Products Division/Abbott Laboratories | ||
8:45 - 9:15 | Nutrition
issues of pregnancy in women with inborn errors of metabolism |
Rani Singh, Ph.D. Emory Medical School | ||
9:15 - 9:45 | Brain phenylalanine concentrations as a tool in managing adults with PKU. | Rex Moates, Ph.D., Children's Hospital of Los Angeles | ||
9:45 - 10:00 | Q
& A Session |
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10:00 - 10:15 | Break sponsored by Ucyclyd Pharma | |||
10:15 - 11:00 | The role of
branched chain amino acid deficiency and protein synthesis in anorexia of
patients with organic acidemias. |
Susan Hutson, Ph.D. Wake Forest University School of Medicine | ||
11:00 - 11:45 | Triheptanoin: A novel
approach to treatment of fatty acid oxidation disorders |
Charles Roe, M.D., Henri Brunengraber, M.D., Ph.D. Baylor University Medical Center and Case Western Reserve University | ||
11:45 - 12:00 | Q
& A Session |
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12:00 | Lunch – Crocker Dining Hall | |||
Afternoon | Free |
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6:00-7:00 | Dinner – Crocker Dining Hall | |||
7:00-8:00 | Donough O’Brien Presidential Addresss - Chapel | Tony Velazquez, M.D. | ||
8:00-10:00 | Poster
session |
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Wednesday, March 6 | ||||
7:30-8:30 | Breakfast |
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8:30-11:30 | Joint
Symposium of the SIMD and the Garrod Society of Canada. Clinical Trials in IEMs |
Grant Mitchell, M.D., Chair |
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8:30-9:00 | Cholesterol therapy in
Smith-Lemli-Opitz
syndrome. |
Mira Irons, M.D., Boston Children’s Hospital | ||
9:00-10:00 | NTBC: Should treatment begin before or after symptoms? |
Grant Mitchell, M.D., Hôpital Ste. Justine, and Ronald Scott, M.D., University of Washington | ||
10:00-10:30 | Emerging therapies for mitochondrial
disorders. |
Bruce Barshop, M.D., PhD., University of California, San Diego | ||
10:30-11:00 | Clinical trial of DHA in the treatment of LCHAD deficiency. | Cary Harding, M.D., University of Oregon Health Science Center | ||
11:00-11:30 | Dichoroacetate in the
treatment of lactic acidosis. |
Peter Stacpoole, M.D., Ph.D., University of Florida, Gainesville | ||
Noon | Check out and lunch – Crocker Dining Hall |