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SOCIETY FOR INHERITED METABOLIC DISORDERS Annual Meeting: March 28 - 31, 2015 Grand America Hotel, Salt Lake City, Utah |
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Friday, March 27, 2015
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4:00 PM – 7:00 PM |
Meeting Registration – Grand Ballroom Registration Desk |
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Saturday, March 28, 2015 |
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8:30 AM - 6:00 PM |
Meeting Registration – Grand Ballroom Registration Desk |
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1:00 PM– 5:00 PM |
Poster board and vendor set up – Imperial Ballroom |
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Scientific Session 1 10:30 AM – 12:00 PM |
Joint Session with ACMG – Salt Palace Convention Center Could it be metabolic? Practical Approaches to Common Presentations Moderators: Georgianne Arnold and Shawn E. McCandless |
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10:30 AM – 11:00 AM |
Diagnostic approach to metabolic hepatomegaly Jean Marie Saudubray, M.D. Senior metabolic consultant neurometabolic unit La Pitié Salpêtrière Hospital (APHP) Paris, France |
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11:00 AM – 11:30 AM |
Floppy Babies: How to think your way through the evaluation Mark Korson, M.D. The Institute for Metabolic Education, Pittsburgh, PA/Boston, MA |
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11:30 AM – 12:00 PM |
Hypoglycemia: When is it Metabolic? Georgianne Arnold, M.D., University of Pittsburgh, Pittsburgh, PA |
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12:00 PM – 1:00 PM |
Lunch (on your own) |
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Scientific Session 2 1:00 PM - 3:00 PM |
Joint Session with ACMG – Salt Palace Convention Center Diagnosis of Metabolic Disease in the 21st Century Moderators: Dietrich Matern and Georgianne Arnold |
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1:00 PM – 1:40 PM |
The NIH Undiagnosed Disease
Program: Shedding light on the future of diagnosis of metabolic disease |
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1:40 PM – 2:20 PM |
A web-based software for
covariate-adjusted pattern recognition and integrated reporting of IEM
biochemical phenotypes |
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2:20 PM – 3:00 PM |
Treatable Neurometabolic Disorders Clara van Karnebeek, M.D., Ph.D., FCCMG BC Children's Hospital, University of British Columbia, Vancouver, BC |
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3:00 PM - 6:00 PM |
SIMD Board meeting – Embassy |
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4:00 PM – 6:00 PM |
NAMA Board meeting - Ambassador |
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7:00 PM – 10:00 PM |
Opening Reception – Grand Salon |
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Sunday, March 29, 2015 |
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7:00 AM – 8:00 AM |
Breakfast – Grand Ballroom B |
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7:30 AM – 5:00 PM |
Meeting Registration - Grand Ballroom Registration Desk |
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Scientific Session 3 8:00 AM –10:00 AM |
Biomedical Engineering/Therapies: Bench to Bedside Grand Ballroom A & D Moderators: Dwight Koeberl and Sue Berry |
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8:00 AM – 8:35 AM |
Bioengineered human muscle for physiological studies and disease modeling Nenad Bursac, Ph.D. Duke University, Durham, NC |
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8:35 AM – 9:10 AM |
Genome Engineering to Correct and Model Genetic Diseases Charles A. Gersbach, Ph.D. Duke University Medical Center, Durham, NC |
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9:10 AM – 9:45 AM |
Mitochondrial Replacement Therapy Shouhkrat Mitalipov, Ph.D. Oregon National Primate Research Center, Oregon Health & Science University, Portland, OR |
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9:45 AM – 10:15 AM |
AM Coffee break - Posters and Exhibits open – Imperial Ballroom |
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10:15 AM – 10:50 AM |
Chimeric animals as models of rare disease research Markus Grompe, M.D. Oregon Health & Science University, Portland, OR |
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10:50 AM – 11:25 AM |
Liver and liver/kidney transplantation in Organic Acidemias Hilary Vernon, M.D., Ph.D. McKusick-Nathans Institute of Genetic Medicine, John Hopkins University Baltimore, MD |
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Scientific Session 4 11:25 AM – 12:10 PM |
New Ideas: The Gut Microbiome as a Metabolic Organ Grand Ballroom A & D Moderators: Shawn E. McCandless |
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11:25 AM – 12:10 PM |
Gut microbiome metabolism of choline and L-carnitine and cardiovascular risk: Implications for metabolic disorders W.H.Wilson Tang, M.D., F.A.C.C., F.A.H.A. Cleveland Clinic, Lerner College of Medicine at CWRU, Cleveland, OH |
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12:10 PM –1:00 PM |
Lunch – Grand Ballroom B |
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Scientific Session 5 1:00 PM – 3:00 PM |
Oral Presentations from Travel Award Winners Grand Ballroom A & D Moderators: Melanie Gillingham and Carol Greene |
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1:00 PM – 1:15 PM |
Long-term Complications of Glycogen Storage Disease Type IA in the dog model treated with gene replacement therapy Elizabeth D. Brooks, MS., DVM Duke University Medical Center, Durham, NC |
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1:15 PM – 1:30 PM |
N-Acetylmannosamine (ManNAc) is Safe and Increased Sialic Acid Production in GNE Myopathy Subjects Brad Class, B.A. National Center for Advancing Translational Sciences (NCATS), NIH Bethesda, MD |
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1:30 PM – 1:45 PM |
Human IPS cell models of cholesterol synthesis disorders reveal WNT signaling defects underlie neurological dysfunction Kevin Francis, Ph.D. NIH/NICHD, Bethesda, MD |
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1:45 PM – 2:00 PM |
Clarifying the phenotype of NGLY1 deficiency, the first congenital disorder of deglycosylation Christina T. Lam, M.D. NHGRI/NIH, Bethesda, MD |
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2:00 PM – 2:15 PM |
Zinc finger nuclease-induced targeted integration of a glucose-6- phosphatase gene promotes survival in mice with glycogen storage disease type 1A Dustin J. Landau, B.S. Duke University Medical Center, Durham, NC |
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2:15 PM – 2:30 PM |
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease Ashlee Stiles, Ph.D. Children’s Hospital of Orange County, Orange, CA |
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2:30 PM – 2:45 PM |
Presentations
from the 2014 Emmanuel Shapira Award Winner Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48
individuals and recommendations for diagnosis, treatment and monitoring Sylvia Stockler-Ipsiroglu, M.D. British Columbia Children’s Hospital, Vancouver, BC Canada |
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2:45 PM - 3:00 PM |
JSIMD Young Investigator award for best presentation at 2014 JSIMD meeting GDF15 is a novel biomarker of mitochondrial diseases Shuichi Yatsuga, M.D., Ph.D. Kurume University School of Medicine, Fukuoka, Japan |
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3:00 PM – 4:00 PM |
PM coffee break - Posters and Exhibits open - Imperial Ballroom |
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Scientific Session 6 4:00 PM – 5:30 PM |
Platform Presentations -- Selected Abstracts Presentation – new and exciting work of broad general interest to the SIMD membership Grand Ballroom A & D Moderators: Bruce Barshop and Cate Walsh Vockley |
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4:00 PM – 4:15 PM |
The first two years of full population pilot newborn screening for Lysosomal Storage Disorders: the Missouri experience Andrea M. Atherton, MS.,CGC Children’s Mercy Hospital, Kansas City, MO |
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4:15 PM – 4:30 PM |
ABAT is a novel human mitochondrial DNA depletion syndrome gene linking Gamma-Aminobutyric Acid (GABA) catabolism and mitochondrial nucleoside metabolism Penelope E. Bonnen, Ph.D. (presenting in place of Arnaud Besse, Ph.D.) Baylor College of Medicine, Houston, TX |
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4:30 PM – 4:45 PM |
Odd or even? Results from a randomized trial of triheptanoin compared to MCT in patients with long-chain fatty acid oxidation disorders Melanie Gillingham, Ph.D., RD Oregon Health & Science University, Portland, OR |
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4:45 PM – 5:00 PM |
Carbonic Anhydrase VA deficiency: an important differential diagnosis of early onset hyperammonemia Carmen Diez-Fernandez, Ph.D. University Children’s Hospital Zurich, Zurich, Switzerland |
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5:00 PM – 5:15 PM |
Urinary glucose tetrasaccharide concentrations in patients with infantile and late-onset Pompe disease identified by newborn screening Sarah Young, Ph.D., FACMG Duke University Medical Center, Durham, NC |
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5:15 PM – 5:30 PM |
NGLY1 deficiency lies in the crosshairs of CDG and mitochondrial diseases Miao He, Ph.D. University of Pennsylvania, The Children’s
Hospital of Philadelphia, Philadelphia, PA |
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5:30 PM - 7:00 PM |
Optional Dinner to purchase (ticket required) – Grand Salon |
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Scientific Session 7
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Poster Session and Reception– Imperial Ballroom |
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7:15 PM – 9:30 PM |
Posters Attended by Authors and Exhibits open– Posters open to all Wine and dessert served |
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7:30 PM – 8:45 PM |
Travel Award Poster Presentations (10 minute presentation at each poster from travel award winner attended by Founders' Award Committee) |
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7:30 PM – 7:40 PM Poster board #9 |
Development of a rapid point-of-care blood phenylalanine meter for at home and bedside use Omar Ayyub, Ph.D. Children’s National Medical Center, Washington, DC |
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7:40 PM– 7:50 PM Poster board #30 |
Identification and Characterization of the Biochemical and Physiological Functions of Acyl-CoA Dehydrogenase 10 Kaitlyn Bloom, Ph.D. The Children’s Hospital of Philadelphia, Philadelphia, PA |
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7:50 PM – 8:00 PM Poster board #50 |
In Vivo OXPHOS Quantitation by Magnetic Resonance Imaging in Metabolic Myopathy Catherine M. DeBrosse. B.S. University of Pennsylvania, Philadelphia, PA |
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8:00 PM – 8:10 PM Poster board #19 |
Mutations in MTIF2 cause a novel disorder of mitochondrial translation Rebecca Ganetzky, M.D. Children’s Hospital of Philadelphia, Philadelphia, PA |
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8:10 PM – 8:20 PM Poster board #64 |
Diagnosing patients with methylmalonic aciduria - comparison of somatic cell and next generation sequencing panel testing Mihaela Pupavac, Ph.D. Candidate McGill University, Montreal, Quebec |
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8:20 PM – 8:30 PM Poster board #81 |
GM1 Gangliosidosis Type II: sub-classification of late infantile and juvenile patients based on age at symptom onset Debra Regier, M.D., Ph.D. NHGRI/NIH, Bethesda, MD |
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8:30PM – 8:45PM |
Committee review |
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Monday, March 30, 2015 |
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7:00 AM – 8:00 AM |
Breakfast – Grand Ballroom B |
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8:00 AM –12:00 PM |
Meeting Registration – Grand Ballroom Registration Desk |
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Scientific Session 8 8:00 AM –10:00 AM |
Membrane Transporter Defects in Humans Grand Ballroom A & D Moderators: Nicola Longo and Laurie Smith |
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8:00 AM – 8:35 AM |
Families of membrane transporters in humans Vadivel Ganapathy, Ph.D. Texas Tech University Health Sciences Center, Lubbock, TX |
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8:35 AM – 9:03 AM |
Lysinuric protein intolerance Carlo Dionisi-Vici, M.D. Pediatrics Hospital Bambino Gesu’, Rome, Italy |
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9:03 AM – 9:31 AM |
The expanding phenotype caused by riboflavin transporter deficiency William Rhead, M.D., Ph.D. Medical College of Wisconsin, Milwaukee, WI |
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9:31 AM – 10:00 AM |
Citrin deficiency and the NADH shuttle Fernando Scaglia, M.D. Baylor College of Medicine, Houston, TX |
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10:00 AM – 11:00 AM |
AM Coffee break - Posters and Exhibits open – Imperial Ballroom |
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Scientific Session 9 11:00 AM –12:30 PM |
The Porphyrias Consortium of the NIH Rare Diseases Clinical Research Network (RDCRN): The Inborn Errors of Heme Biosynthesis Grand Ballroom A & D Moderators: Robert Desnick and Marshall Summar |
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11:00 AM – 11:05 AM |
Introduction on the RDCRN Robert Desnick, Ph.D., M.D. Icahn School of Medicine at Mount Sinai, New York, NY |
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11:05 AM – 11:30 AM |
Heme Biosynthesis: Biochemistry, Biology, and Structural Biology John D. Phillips, Ph.D. University of Utah Health Science Center, Salt Lake City, UT |
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11:30 AM – 12:00 PM |
The Porphyrias: Classification and Manifestations Karl E. Anderson, M.D., FACP University of Texas Medical Branch/UTMB Health, Galveston, TX |
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12:00 PM – 12:30 PM |
Diagnosis and Treatment of the Porphyrias Robert Desnick, Ph.D., M.D. Icahn School of Medicine at Mount Sinai, New York, NY |
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12:30 PM – 7:30 PM |
Lunch and dinner on your own – Free Afternoon |
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1:00 PM - 6:00 PM |
Posters on
display
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5:30 PM – 7:30 PM |
NAMA Reception (by invitation only) Murano |
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7:30 PM –8:00 PM |
Past Presidential Address - Grand Ballroom A & D Presidential Address: A quarter century later C. Ron Scott, M.D. University of Washington, Seattle, WA |
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8:00 PM – 9:30 PM |
SIMD Business Meeting and Award Presentations Emmanuel Shapira SIMD Award (First Author of Best Publication in MGM) Founders' Award (Best Oral Presentation by a Trainee) |
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Tuesday, March 31, 2015 |
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7:00 AM – 8:00 AM |
Breakfast – Grand Ballroom B |
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7:30 AM – 10:00 AM |
Meeting Registration - Grand Ballroom Registration Desk |
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Scientific Session 10 8:00 AM –10:00 AM |
Inborn Errors of Metabolism and Cancer - Grand Ballroom A & D Moderators: Fernando Scaglia and Lynne Wolfe |
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8:00 AM – 8:30 AM |
The
role of succinate dehydrogenase and fumarate hydratase in tumorigenesis Maya Lodish, M.D., MHSc National Institute of Child Health and Human Development/NIH, Bethesda, MD |
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8:30 AM – 9:00 AM |
The incidence of tumors in lysosomal storage disorders Greg Pastores, M.D. Yale University School of Medicine, New Haven, CT |
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9:00 AM – 9:30 AM |
The association of Mitochondrial Hepatopathies and Childhood Liver Cancer Ron Sokol, M.D. University of Colorado School of Medicine, Aurora, CO |
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9:30 AM – 10:00 AM |
2-hydroxyglutarate and metabolic reprogramming in cancer Ralph DeBerardinis, M.D., Ph.D. University of Texas Southwestern, Dallas, TX |
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10:00 AM -10:30
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AM Coffee Break –Posters and Exhibits open -
Imperial Ballroom
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Scientific Session 11 10:30 AM – 11:45 AM |
Controversies in Newborn Screening for Inborn Errors of Metabolism - Grand Ballroom A & D Moderators: Katrina Dipple and Marzia Pasquali |
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10:30 AM – 10:50 AM |
SCAD Deficiency: Differential Diagnosis and Relevance to Human health William Rhead, M.D., Ph.D. Medical College of Wisconsin, Milwaukee, WI |
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10:50 AM – 11:10AM |
3-Methylcrotonyl-CoA Carboxylase-deficiency: To screen or not to screen? Prof. Matthias R. Baumgartner, M.D. University Children’s Hospital, Zurich, Switzerland |
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11:10 AM – 11:45 AM |
Short chain Acyl-CoA Dehydrogenase(SCAD) and 3-methyl-Crotonyl-CoA Carboxylase (3MCC) deficiencies and newborn screening Marzia Pasquali, Ph.D., FACMG University of Utah School of Medicine, Salt Lake City, UT |
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11:45 AM -12:00PM |
Closing Remarks |
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