Moderator: Nicola Longo, M.D., Ph.D. 8:00 8:30 AM Carnitine and Carnitine palmitoyl transferase II deficiency
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1 Program for SIMD Annual Meeting February 27-March 2, 2011 Asilomar Conference Center Pacific Grove, CA Sunday, February 27, :00 6:00 PM Meeting Registration Phoebe A. Hearst Social Hall Poster board and vendor set up Fred Farr Forum and Kiln 3:00 8:00 PM Asilomar check in Phoebe A. Hearst Social Hall 3:00 6:00 PM SIMD Board meeting Scripps 6:00 PM 8:00 PM Dinner and Welcome reception Crocker Dining Hall Scientific Session 1 Education for metabolic disorders Merrill Hall 8:00 9:20 PM Moderator: Mark Korson M.D. 8:00 8:20 PM The NAMA experience Jerry Vockley, M.D., Ph.D. University of Pittsburgh, Pittsburgh, PA 8:20 8:50 PM Laboratory training in inborn errors of metabolism Tina Cowan, Ph.D. Stanford University SOM, Palo Alto, CA 8:50 9:20 PM Metabolic Outreach Service: A Comprehensive Approach to Metabolic Education, Care and Recruitment Mark Korson, M.D. Tufts University School of Medicine, Boston, MA Monday, February 28, :00 AM 8:00 AM Breakfast Crocker Dining hall 8:00 AM 5:30 PM Registration Merrill Hall Poster set up Fred Farr Forum and Kiln Scientific Session 2 Disorders of the carnitine cycle and fatty acid oxidation Merrill 8:00 AM 12:15 PM Hall Moderator: Nicola Longo, M.D., Ph.D. 8:00 8:30 AM Carnitine and Carnitine palmitoyl transferase II deficiency Nicola Longo, M.D., Ph.D. 8:30 9:00 AM Hypoglycemia in children: Interactions between the endocrine system, fatty acid oxidation and ketone bodies (SCHAD, CACT, CPT 1 and HMG CoA synthase deficiency) Charles Stanley, M.D. Children s Hospital of Philadelphia, Philadelphia, PA 9:00 9:30 AM Challenges in the diagnosis and management of VLCAD and trifunctional protein deficiencies Cary Harding, M.D. Oregon Health & Science University, Portland, OR 9:30 9:50 AM Genotype phenotype metabolite correlations in MCAD deficiency Georgianne Arnold, M.D.
2 University of Pittsburgh, Pittsburgh, PA 9:50 10:05 AM Short chain acyl CoA dehydrogenase deficiency and other Rare Disorders of Metabolism with Elevated C4 carnitine Detected by Tandem Mass Spectroscopy Newborn Screening Dwight Koeberl, M.D., Ph.D. Duke University Medical Center, Durham, NC 10:05 10:45 AM AM Coffee break Exhibits open Fred Farr Forum and Kiln Scientific Session 3 10:45 AM 12:00 PM GMDI SESSION: Advances in medical foods Merrill Hall Moderator: Amy C Cunningham M.S., L.D.N., R.D. Tulane University, New Orleans, LA 10:45 11:00 AM Medical foods: history and future directions Dianne Frazier, Ph.D., R.D. University of North Carolina at Chapel Hill, Chapel Hill, NC 11:00 11:20 AM Glycomacropeptides GMP: A new option for PKU diet management Sandy Van Calcar Ph.D, R.D. Waisman Center, University of Wisconsin Madison, Madison, WI 11:20 11:40 AM Competitive inhibition of large neutral amino acids as an alternate treatment modality in inborn errors Steve Yannicelli, Ph.D., R.D. Nutricia North America, Valencia, CA 11:40 12:00noon Panel discussion: How do we make a choice? Dianne Frazier Ph.D., R.D., Fran Rohr M.P.H, R.D., Amy C. Cunningham M.S., R.D. 12:00 1:00 PM Lunch Crocker Dining Hall Scientific Session 4 1:15 5:15 PM Session 4 Contributed Papers Merrill Hall Presentations from Travel Award Winners, the SIMD Hyperion and Ucyclyd Fellows and the 2010 Shapira Award Winner 15 presentations 15 min each 1:15 1:30 PM Novel application of bortezomib in abrogating antibodies against ERT in Pompe Disease: A strategy for broad clinical application in diseases treated with therapeutic proteins Suhrad Banugaria, M.B.B.S. Duke Universit ymedical Center, Durham, NC 1:30 1:45 PM Substrate oxidation & cardiac workload during exercise in long chain fatty acid oxidation disorders Annie Behrend, M.S., RD. Oregon Health & Science University, Portland, OR 1:45 2:00 PM Detailed phenotype and long term outcome of early onset cblc disease Nuria Carrillo Carrasco, M.D. NHGRI/NIH, Bethesda, MD 2:00 2:15 PM Biochemical, molecular, and clinical characteristics of children with short chain acyl CoA dehydrogenase deficiency detected via newborn screen in the state of California Natalie Gallant, M.D. University of California at Los Angeles, Los Angeles, CA 2:15 2:30 PM Rescue of medium chain acyl CoA dehydrogenase protein activity by
3 small molecule compounds and synthetic peptides: implications for future treatment Heejung Kang, M.S. University of Pittsburgh, Pittsburgh, PA 2:30 2:45PM Muscle targeted transgene expression rescues the lethal phenotype of Mut knockout mice Irini Manoli, Ph.D. NHGRI/NIH, Bethesda, MD 2:45 3:00PM Presentation from the 2010 SIMD Hyperion Fellow Nitric oxide production in subjects with melas syndrome and the effect of arginine and citrulline supplementation: interim results Ayman El Hattab, M.D. Baylor College of Medicine, Houston, TX 3:00 3:30 PM PM coffee break Fred Farr Forum and Kiln 3:30 3:45 PM A breakthrough toward establishing a murine model for n acetylglutamate synthase (NAGS) deficiency Khulkar Mirzozoda Children s National Medical Center, Washington, DC 3:45 4:00 PM Exome sequencing and ex vivo metabolic flux analysis as a diagnostic platform for inborn errors of metabolism Andrew Mullen The University of Texas Southwestern Medical Center, Dallas, TX 4:00 4:15PM The emerging phenotype of long term infantile Pompe survivors on enzyme replacement therapy Sean Prater, M.Res. Duke University Medical Center, Duham, NC 4:15 4:30PM Combined screening for lysophosphatidyl cholines and acyl carnitines in dried blood spots Yana Sandlers, M.Sc., Ph.D. Kennedy Krieger Institute, Johns Hopkins University SOM, Baltimore, MD 4:30 4:45PM Long chain acyl CoA dehydrogenase deficiency: a new inborn error of metabolism manifesting as congenital surfactant deficiency Kristen Suhrie, M.D. The Children s Hospital of Pittsburgh, Pittsburg, PA 4:45 5:00PM Murine very long chain acyl CoA dehydrogenase (VLCAD) cardiacspecific knockout reveals essential role in response to cold stress Dingding Xiong, M.D., Ph.D. Cincinnatai Children s Hospital Medical Center, Cincinnati, OH 5:00 5:15 PM Presentation from the 2010 SIMD Ucyclyd Fellow Tandem Mass Spectrometry for the Diagnosis of Free Sialic Acid Disorders Lidong Zhai, Ph.D. University of Alabama at Birmingham, Birmingham, AL 5:15 5:30pm Presentation from the 2010 Emmanuel Shapira Award Winner Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing Emily H. Smith, Ph.D. Mayo Clinic, Rochester, MD 6:00 7:00 PM Dinner Crocker Dining Hall
4 7:15 9:30 PM Exhibits open Fred Farr Forum and Kiln Posters Attended by Authors Fred Farr Forum, Kiln, Afterglow living room and Hearth living room Wine and dessert served Tuesday, March 1, :00 AM 8:00 AM Breakfast Crocker Dining hall 8:00 AM 12:00 PM Registration Merrill Hall Scientific Session 5 Homocystinuria and disorders of methionine metabolism Merrill 8:00 10:00 AM Hall Moderators: Jan P. Kraus Ph.D. 8:00 8:40 AM Disorders of homocysteine transsulfuration and remethylation: Introduction and classic homocystinuria Jan P. Kraus, Ph.D. University of Colorado, Aurora, CO 8:40 9:10 AM Clinical characterization of patients with various forms of homocyst(e)ine elevation in blood or urine David Rosenblatt, M.D. McGill University, Montreal, Quebec 9:10 9:30 AM Biochemistry and genetics of homocysteine remethylation disorders Brian Fowler, Ph.D. University Children's Hospital Basel (UKBB), Basel, Switzerland 9:30 9:50 AM Folate metabolism and MTHFR deficiency Rima Rozen, Ph.D., F.R.S.C., F.C.C.M.G. McGill University, Montreal, Quebec 9:50 10:10 AM The Genetic Hypermethioninemias S. Harvey Mudd, M.D. NIMH/ LGCB, Bethesda, MD 10:10 10:40 AM AM Coffee break Exhibits open Fred Farr Forum and Kiln Scientific Session 6 Cofactor deficiencies affecting the brain Merrill Hall 10:40 AM 12:00 PM Moderators: Barry Wolf, M.D., Ph.D. 10:40 11:20 AM Biotin holocaroxylase sythetase, biotinidase deficiency and biotin transporter disorders: What do we know and what is still left to learn? Barry Wolf, M.D., Ph.D. Henry Ford Hospital, Detroit, MI 11:20 11:40 AM Cerebral folate deficiency Keith Hyland Ph.D. Medical Neurogenetics, Atlanta, GA 11:40 AM 12:00 PM Molybdenum cofactor and sulfite oxidase deficiency Günter Schwarz, Ph.D. Institute of Biochemistry and Center for Molecular Medicine, Cologne University, Koeln, Germany 12:00 1:00 PM Lunch Crocker Dining Hall 1:00 6:00 PM Free afternoon 1:00 6:00 PM Posters and exhibits on display Fred Farr Forum and Kiln 1:00 4:00 PM NAMA Faculty Meeting Triton 4:00 6:00 PM NAMA Reception by invitation only Scripps
5 6:00 7:00 PM Dinner Crocker Dining Hall 7:30 8:00 PM Invited Address Merrill Hall The NIH Undiagnosed Diseases Program William A. Gahl, M.D., Ph.D., Past President, SIMD Clinical Director, NHGRI/Director, NIH Undiagnosed Diseases Program 8:00 9:30 PM SIMD Business Meeting and Award Presentations 2010 Emmanuel Shapira SIMD Award (First Author of Best Publication in MGM) Neil Buist Award (Best Oral Presentation by a Trainee) Wednesday, March 2, :00 8:00 AM Breakfast Crocker Dining Hall Scientific Session 7 Clinical trials and patient registries in inborn errors of 8:00 10:00 AM metabolism Merrill Hall Moderator: Douglas Kerr M.D., Ph.D. 8:00 8:30 AM Why are there no proven therapies for genetic mitochondrial diseases? Peter Stacpoole, Ph.D., M.D. University of Florida, Gainesville, FL 8:30 9:00 AM Liver cell transplantation (LCT) in urea cycle defects Georg F. Hoffmann, M.D., Ph.D. University of Heidelberg, Heidelberg, Germany 9:00 9:30 AM Clinical trials in urea cycle disorders Sandesh Sreenath Nagamani, M.D. Baylor College of Medicine, Houston, TX 9:30 10:00 AM New therapies for lysosomal storage disorders (LSDs) Greg Grabowski, M.D. Cincinnati Children s Hospital, Cincinnati, OH 10:00 10:30 AM AM Coffee Break Fred Farr Forum and Kiln Scientific Session 8 10:30 am 11:45 am Registries and long term outcome of metabolic disorders Merrill Hall Moderator: Lorenzo Botto MD 10:30am 10:55 AM Phenylketonuria registry Shideh Mofidi, M.S., R.D., C.S.P. Maria Fareri Childrens Hospital Westchester Medical Center, Valhalla, NY 10:55 AM 11:20 AM Surveillance programs for metabolic disorders: clinical and public health aspects Lorenzo Botto, M.D. 11:20am 11:45am Update on the urea cycle registry Marshall Summar, M.D. Children s National Medical Center, Washington, DC 11:45 12:00 Closing comments and meeting adjourns Nicola Longo, M.D., Ph.D.
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