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2004 SIMD Conference Program PROGRAM
Molecular Genetics and Metabolism 81 (2004) 148–151 www.elsevier.com/locate/ymgme
2004 SIMD Conference Program DAY 1: SUNDAY, MARCH 7 10:00 am–6:30 pm
REGISTRATION, Peabody Hotel (Lobby Level by West Entrance)
12:30 pm
Buses will transport registrants from the Peabody to the Gaylord Palms Resort for Joint Symposium with the American College of Medical Genetics
1:30–4:30 pm
ACMG-SIMD JOINT SYMPOSIUM, Gaylord Palms Resort, Moderators: Barbara K. Burton, MD and Elaine Spector, PhD
1:30–2:00
Enzyme replacement therapy for lysosomal storage disorders. Joseph Muenzer, MD, PhD, University of North Carolina at Chapel Hill
2:00–2:30
Human gene therapy—risks and benefits. Christof v. Kalle, MD, Cincinnati ChildrenÕs Hospital Research Foundation
2:30–3:00
BH4 therapy for phenylketonuria. Nenad Blau, PhD, University ChildrenÕs Hospital, Zurich, Switzerland
3:00–3:30
BREAK
3:30–4:00
Acylcarnitine analysis in clinical practice. Dietrich Matern, MD, Mayo Clinic and Foundation
4:00–4:30
New neurometabolic disorders including creatine disorders. Johan van Hove, MD, University of Colorado Health Science Center
4:45
Buses to transport registrants back to Peabody Hotel (meet outside Convention Center)
7–10 pm
OPENING RECEPTION, Peabody Hotel—Coconuts (Recreational Level) SPONSORED BY UCYCLYD PHARMA
DAY 2: MONDAY, MARCH 8 7:00–8:00
BREAKFAST Peabody Hotel (Included in registration) Plaza F–H (Convention Level)
8:00–12:15
NEUROGENETICS Plaza International Ballroom D (Convention Level). Joel Charrow, MD, Moderator, ChildrenÕs Memorial Hospital, Chicago
8:00–8:45
Neuronal ceroid lipofuscinosis. Krystyna Wisniewski, MD, PhD, NY State Institute for Research for Developmental Disabilities
8:45–9:30
Alexander disease. Albee Messing, VMD, PhD, University of Wisconsin at Madison
9:30–10:15
Dopa-responsive dystonia. Yoshiaki Furukawa, MD, Centre for Addiction and Mental Health, Toronto
10:15–10:45
BREAK—Plaza International Ballroom E (Convention Level)
10:45–11:30
Pelizaeus–Merzbacher and other PLP-related disorders. James Garbern, MD, PhD, Wayne State University, Detroit
11:30–12:15
Gaucher disease. Ellen Sidransky, MD, National Institute of Mental Health and Medical Genetics Branch, NHGRI
12:15–1:30
LUNCH (Offered as an option for purchase to meeting registrants)—Plaza F–H (Convention Level)
doi:10.1016/j.ymgme.2004.01.007
2004 SIMD Conference Program / Molecular Genetics and Metabolism 81 (2004) 148–151
149
1:30–2:00
SPECIAL GUEST SPEAKER—Plaza International Ballroom D (Convention Level). Marlene E. Haffner, MD, MPh, Director, Office of Orphan Products Development Food and Drug Administration. ‘‘Developing treatments for inborn errors: incentives available to the clinician’’
2:00–5:30
CONTRIBUTED PAPER SESSION—TRAVEL AWARD RECIPIENTS. Stephen I. Goodman, MD, Moderator, University of Colorado Health Science Center Presentations will be 10 minutes with 5 minutes for questions and discussion.
2:00
Cloning of the human N-acetylglutamate synthase gene and identification of mutations associated with hyperammonemia. Ljubica Caldovic, ChildrenÕs National Medical Center, Washington, DC
2:15
Development, characterization, and treatment of a hypomorphic SLOS mouse model. Lina Correa-Cerro, NICHD, National Institutes of Health, Bethesda, MD.
2:30
Novel phenotype of isovaleric acidemia associated with a common mutation identified in patients diagnosed by newborn screening. Regina E. Ensenauer, Mayo Clinic College of Medicine, Rochester, MN.
2:45
Maternal liver diseases (MLD) in the pregnancies of infants with the spectrum of fatty acid oxidation defects (FAOD) compared to matched population controls. Marsha Fearing, Harvard Medical School, Boston, MA
3:00
Altered lysosomal targeting in fibroblasts from patients with acute neuronopathic Gaucher disease. Ozlem Goker-Alpan, NIMH, and Medical Genetics Branch, NHGRI, NIH, Bethesda, MD
3:15
Intravenous recombinant phenylalanine ammonia lyase treatment reduces brain phenylalanine in PKU mouse. Christineh Sarkissian, McGill University, Montreal, Quebec, Canada
3:30–4:00
BREAK—Plaza International Ballroom E (Convention Level)
4:00
Preliminary study of hammerhead ribozyme-mediated knockdown of rat PDC E1a mRNA in vitro. Zongchao Han, University of Florida, College of Medicine, Gainesville, FL
4:15
Potential of triheptanoate emulsion for the parenteral and enteral treatment of long-chain fatty acid oxidation disorders: metabolic studies in normal rats. Renee Kinman, Case Western Reserve University, Cleveland, Ohio.
4:30
Homology modeling of the human mitochondrial ornithine transporter. Hiroki Morizono, ChildrenÕs National Medical Center, Washington, DC
4:45
CLN3L, a novel alternatively spliced protein related to the batten disease protein is over expressed in CLN3)/) mice and in Batten disease. Srinivas Narayan, ChildrenÕs Medical Center of Dallas, Dallas, TX
5:00
Glucocerebrosidase mutations in two cohorts with Parkinson disease. Joann Nguyen, Section on Molecular Neurogenetics, NIMH, and Medical Genetics Branch, NHGRI, NIH, Bethesda, MD
5:15
Glucocerebrosidase isoforms in brains of patients with gaucher disease. Jamie Walker, Section on Molecular Neurogenetics, NIMH, NIH; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD
6:30
DINNER (Offered as an option for purchase to meeting registrants) Plaza F–H (Convention Level)
7:30
Board of Directors Meeting—Sweetwater Room (Mezzanine Level)
DAY 3: TUESDAY, MARCH 9 7:00–8:15
BREAKFAST, Peabody Hotel (Included in registration)—Plaza F–H (Convention Level)
8:15–12:00
NEWBORN SCREENING/TANDEM MASS SPECTROSCOPY—Plaza International Ballroom D (Convention Level) Piero Rinaldo, MD, Moderator, Mayo Clinic and Foundation
150
2004 SIMD Conference Program / Molecular Genetics and Metabolism 81 (2004) 148–151
8:15–8:50
Short chain acyl CoA dehydrogenase deficiency: what is it? How should we diagnose and treat it? Dietrich Matern, MD, Mayo Clinic and Foundation
8:50–9:25
Glutaric acidemia type I: treatment and outcome. Kevin Strauss, MD, Clinic for Special Children, Strasburg, PA
9:25–10:00
Diagnosis and management of new inborn errors of metabolism identified through tandem mass spectroscopy. Dwight Koeberl, MD, Duke University Medical Center
10:00–10:30
BREAK—Plaza International Ballroom E (Convention Level)
10:30–11:05
The changing spectrum of fatty acid oxidation disorders post newborn screening. Arnold Strauss, MD, Vanderbilt University Medical Center
11:05–11:40
Error prevention in the prenatal diagnosis of disorders of organic acid and fatty acid metabolism. Piero Rinaldo, MD, PhD, Mayo Clinic and Foundation
11:40–12:00
Open discussion of issues related to newborn screening Afternoon free to enjoy activities in the Orlando area
6:30–7:00
DONOUGH OÕBRIEN PRESIDENTIAL ADDRESS—Plaza International Ballroom D (Convention Level). Mendel Tuchman MD, President SIMD ChildrenÕs National Medical Center and The George Washington University
7:00
PRESENTATION OF THE EMMANUEL SHAPIRA SIMD AWARD to Elena Tartaglina, PhD, Research Fellow, Division of Hematology/Oncology, Department of Medicine, ChildrenÕs Hospital, Boston, MA and Judith C. Fleming, PhD for their paper: Fleming, J.C., Tartaglini, E., Kawatsuji, R., Yao, D., Fujiwara, Y., Bednarski, J.J., Fleming, M.D., and Neufeld, E.J. Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. Mol. Genet. Metab. 2003, 80: 234–241. Dr. Tartaglina will give a 10 minute presentation on award article followed by 5 minutes for questions and discussion.
7:15–8:30
BUSINESS MEETING of the SIMD
8:30–10:00
POSTER SESSION (with refreshments)—Plaza International Ballroom E (Convention Level) sponsored by GENZYME THERAPEUTICS
DAY 4: WEDNESDAY, MARCH 10 7:00–8:00
BREAKFAST, Peabody Hotel (included in registration) Plaza F–H (Convention Level)
8:00–8:05
PRESENTATION OF THE NEIL BUIST AWARD by the SIMD President, Mendel Tuchman, MD, ChildrenÕs National Med. Center and George Washington Univ. Plaza International Ballroom D (Convention Level) The Neil Buist Award was established in 2004 in honor of one of the founders and most distinguished members of the SIMD. Neil R.M. Buist, MB, Ch.B, who retired from the Board of Directors of the SIMD in 2003 after 25 years of continuous service. The award is given for the best presentation by a student or trainee each year at the annual meeting. The winner is selected by a committee of SIMD members during the course of the meeting.
8:05–9:35
NEW INSIGHTS ON FAMILIAR DISORDERS—Orlando I & II (Convention Level). Greta Seashore, MD, Moderator, Yale University School of Medicine
8:05–8:50
PKU is a problem in biology. Charles Scriver, MD, McGill University, Montreal
8:50–9:35
The relationship between metabolic muscle disorders and cholesterol-lowering drugs. Georgirene Vladutiu, PhD, WomenÕs and ChildrenÕs Hospital of Buffalo
9:35–10:00
BREAK—Plaza International Ballroom E (Convention Level)
10:00–12:00
NUTRITIONAL ISSUES RELATED TO INBORN ERRORS OF METABOLISM. Rani H. Singh, PhD, RD, Moderator
10:00–10:30
Methods of evaluating protein status in patients with inborn errors of metabolism.
2004 SIMD Conference Program / Molecular Genetics and Metabolism 81 (2004) 148–151
151
Phyllis Acosta, PhD, RD, Ross Products Division, Abbott Laboratories 10:30–11:00
MCAD deficiency: diagnosis and management. The North Carolina Experience. Diane Frazier, PhD, MPH, RD, University of North Carolina at Chapel Hill
11:00–11:30
D/G galactosemia: to treat or nor to treat? Rani H. Singh, PhD, RD, Emory University School of Medicine
11:30–12:00
Models of transition from pediatric to adult care. Cristine Trahms, MS, RD, University of Washington
12:00
Meeting adjourned
2004 SIMD Conference Program DAY 1: SUNDAY, MARCH 7 10:00 am–6:30 pm
REGISTRATION, Peabody Hotel (Lobby Level by West Entrance)
12:30 pm
Buses will transport registrants from the Peabody to the Gaylord Palms Resort for Joint Symposium with the American College of Medical Genetics
1:30–4:30 pm
ACMG-SIMD JOINT SYMPOSIUM, Gaylord Palms Resort, Moderators: Barbara K. Burton, MD and Elaine Spector, PhD
1:30–2:00
Enzyme replacement therapy for lysosomal storage disorders. Joseph Muenzer, MD, PhD, University of North Carolina at Chapel Hill
2:00–2:30
Human gene therapy—risks and benefits. Christof v. Kalle, MD, Cincinnati ChildrenÕs Hospital Research Foundation
2:30–3:00
BH4 therapy for phenylketonuria. Nenad Blau, PhD, University ChildrenÕs Hospital, Zurich, Switzerland
3:00–3:30
BREAK
3:30–4:00
Acylcarnitine analysis in clinical practice. Dietrich Matern, MD, Mayo Clinic and Foundation
4:00–4:30
New neurometabolic disorders including creatine disorders. Johan van Hove, MD, University of Colorado Health Science Center
4:45
Buses to transport registrants back to Peabody Hotel (meet outside Convention Center)
7–10 pm
OPENING RECEPTION, Peabody Hotel—Coconuts (Recreational Level) SPONSORED BY UCYCLYD PHARMA
DAY 2: MONDAY, MARCH 8 7:00–8:00
BREAKFAST Peabody Hotel (Included in registration) Plaza F–H (Convention Level)
8:00–12:15
NEUROGENETICS Plaza International Ballroom D (Convention Level). Joel Charrow, MD, Moderator, ChildrenÕs Memorial Hospital, Chicago
8:00–8:45
Neuronal ceroid lipofuscinosis. Krystyna Wisniewski, MD, PhD, NY State Institute for Research for Developmental Disabilities
8:45–9:30
Alexander disease. Albee Messing, VMD, PhD, University of Wisconsin at Madison
9:30–10:15
Dopa-responsive dystonia. Yoshiaki Furukawa, MD, Centre for Addiction and Mental Health, Toronto
10:15–10:45
BREAK—Plaza International Ballroom E (Convention Level)
10:45–11:30
Pelizaeus–Merzbacher and other PLP-related disorders. James Garbern, MD, PhD, Wayne State University, Detroit
11:30–12:15
Gaucher disease. Ellen Sidransky, MD, National Institute of Mental Health and Medical Genetics Branch, NHGRI
12:15–1:30
LUNCH (Offered as an option for purchase to meeting registrants)—Plaza F–H (Convention Level)
doi:10.1016/j.ymgme.2004.01.007
2004 SIMD Conference Program / Molecular Genetics and Metabolism 81 (2004) 148–151
149
1:30–2:00
SPECIAL GUEST SPEAKER—Plaza International Ballroom D (Convention Level). Marlene E. Haffner, MD, MPh, Director, Office of Orphan Products Development Food and Drug Administration. ‘‘Developing treatments for inborn errors: incentives available to the clinician’’
2:00–5:30
CONTRIBUTED PAPER SESSION—TRAVEL AWARD RECIPIENTS. Stephen I. Goodman, MD, Moderator, University of Colorado Health Science Center Presentations will be 10 minutes with 5 minutes for questions and discussion.
2:00
Cloning of the human N-acetylglutamate synthase gene and identification of mutations associated with hyperammonemia. Ljubica Caldovic, ChildrenÕs National Medical Center, Washington, DC
2:15
Development, characterization, and treatment of a hypomorphic SLOS mouse model. Lina Correa-Cerro, NICHD, National Institutes of Health, Bethesda, MD.
2:30
Novel phenotype of isovaleric acidemia associated with a common mutation identified in patients diagnosed by newborn screening. Regina E. Ensenauer, Mayo Clinic College of Medicine, Rochester, MN.
2:45
Maternal liver diseases (MLD) in the pregnancies of infants with the spectrum of fatty acid oxidation defects (FAOD) compared to matched population controls. Marsha Fearing, Harvard Medical School, Boston, MA
3:00
Altered lysosomal targeting in fibroblasts from patients with acute neuronopathic Gaucher disease. Ozlem Goker-Alpan, NIMH, and Medical Genetics Branch, NHGRI, NIH, Bethesda, MD
3:15
Intravenous recombinant phenylalanine ammonia lyase treatment reduces brain phenylalanine in PKU mouse. Christineh Sarkissian, McGill University, Montreal, Quebec, Canada
3:30–4:00
BREAK—Plaza International Ballroom E (Convention Level)
4:00
Preliminary study of hammerhead ribozyme-mediated knockdown of rat PDC E1a mRNA in vitro. Zongchao Han, University of Florida, College of Medicine, Gainesville, FL
4:15
Potential of triheptanoate emulsion for the parenteral and enteral treatment of long-chain fatty acid oxidation disorders: metabolic studies in normal rats. Renee Kinman, Case Western Reserve University, Cleveland, Ohio.
4:30
Homology modeling of the human mitochondrial ornithine transporter. Hiroki Morizono, ChildrenÕs National Medical Center, Washington, DC
4:45
CLN3L, a novel alternatively spliced protein related to the batten disease protein is over expressed in CLN3)/) mice and in Batten disease. Srinivas Narayan, ChildrenÕs Medical Center of Dallas, Dallas, TX
5:00
Glucocerebrosidase mutations in two cohorts with Parkinson disease. Joann Nguyen, Section on Molecular Neurogenetics, NIMH, and Medical Genetics Branch, NHGRI, NIH, Bethesda, MD
5:15
Glucocerebrosidase isoforms in brains of patients with gaucher disease. Jamie Walker, Section on Molecular Neurogenetics, NIMH, NIH; Medical Genetics Branch, NHGRI, NIH, Bethesda, MD
6:30
DINNER (Offered as an option for purchase to meeting registrants) Plaza F–H (Convention Level)
7:30
Board of Directors Meeting—Sweetwater Room (Mezzanine Level)
DAY 3: TUESDAY, MARCH 9 7:00–8:15
BREAKFAST, Peabody Hotel (Included in registration)—Plaza F–H (Convention Level)
8:15–12:00
NEWBORN SCREENING/TANDEM MASS SPECTROSCOPY—Plaza International Ballroom D (Convention Level) Piero Rinaldo, MD, Moderator, Mayo Clinic and Foundation
150
2004 SIMD Conference Program / Molecular Genetics and Metabolism 81 (2004) 148–151
8:15–8:50
Short chain acyl CoA dehydrogenase deficiency: what is it? How should we diagnose and treat it? Dietrich Matern, MD, Mayo Clinic and Foundation
8:50–9:25
Glutaric acidemia type I: treatment and outcome. Kevin Strauss, MD, Clinic for Special Children, Strasburg, PA
9:25–10:00
Diagnosis and management of new inborn errors of metabolism identified through tandem mass spectroscopy. Dwight Koeberl, MD, Duke University Medical Center
10:00–10:30
BREAK—Plaza International Ballroom E (Convention Level)
10:30–11:05
The changing spectrum of fatty acid oxidation disorders post newborn screening. Arnold Strauss, MD, Vanderbilt University Medical Center
11:05–11:40
Error prevention in the prenatal diagnosis of disorders of organic acid and fatty acid metabolism. Piero Rinaldo, MD, PhD, Mayo Clinic and Foundation
11:40–12:00
Open discussion of issues related to newborn screening Afternoon free to enjoy activities in the Orlando area
6:30–7:00
DONOUGH OÕBRIEN PRESIDENTIAL ADDRESS—Plaza International Ballroom D (Convention Level). Mendel Tuchman MD, President SIMD ChildrenÕs National Medical Center and The George Washington University
7:00
PRESENTATION OF THE EMMANUEL SHAPIRA SIMD AWARD to Elena Tartaglina, PhD, Research Fellow, Division of Hematology/Oncology, Department of Medicine, ChildrenÕs Hospital, Boston, MA and Judith C. Fleming, PhD for their paper: Fleming, J.C., Tartaglini, E., Kawatsuji, R., Yao, D., Fujiwara, Y., Bednarski, J.J., Fleming, M.D., and Neufeld, E.J. Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. Mol. Genet. Metab. 2003, 80: 234–241. Dr. Tartaglina will give a 10 minute presentation on award article followed by 5 minutes for questions and discussion.
7:15–8:30
BUSINESS MEETING of the SIMD
8:30–10:00
POSTER SESSION (with refreshments)—Plaza International Ballroom E (Convention Level) sponsored by GENZYME THERAPEUTICS
DAY 4: WEDNESDAY, MARCH 10 7:00–8:00
BREAKFAST, Peabody Hotel (included in registration) Plaza F–H (Convention Level)
8:00–8:05
PRESENTATION OF THE NEIL BUIST AWARD by the SIMD President, Mendel Tuchman, MD, ChildrenÕs National Med. Center and George Washington Univ. Plaza International Ballroom D (Convention Level) The Neil Buist Award was established in 2004 in honor of one of the founders and most distinguished members of the SIMD. Neil R.M. Buist, MB, Ch.B, who retired from the Board of Directors of the SIMD in 2003 after 25 years of continuous service. The award is given for the best presentation by a student or trainee each year at the annual meeting. The winner is selected by a committee of SIMD members during the course of the meeting.
8:05–9:35
NEW INSIGHTS ON FAMILIAR DISORDERS—Orlando I & II (Convention Level). Greta Seashore, MD, Moderator, Yale University School of Medicine
8:05–8:50
PKU is a problem in biology. Charles Scriver, MD, McGill University, Montreal
8:50–9:35
The relationship between metabolic muscle disorders and cholesterol-lowering drugs. Georgirene Vladutiu, PhD, WomenÕs and ChildrenÕs Hospital of Buffalo
9:35–10:00
BREAK—Plaza International Ballroom E (Convention Level)
10:00–12:00
NUTRITIONAL ISSUES RELATED TO INBORN ERRORS OF METABOLISM. Rani H. Singh, PhD, RD, Moderator
10:00–10:30
Methods of evaluating protein status in patients with inborn errors of metabolism.
2004 SIMD Conference Program / Molecular Genetics and Metabolism 81 (2004) 148–151
151
Phyllis Acosta, PhD, RD, Ross Products Division, Abbott Laboratories 10:30–11:00
MCAD deficiency: diagnosis and management. The North Carolina Experience. Diane Frazier, PhD, MPH, RD, University of North Carolina at Chapel Hill
11:00–11:30
D/G galactosemia: to treat or nor to treat? Rani H. Singh, PhD, RD, Emory University School of Medicine
11:30–12:00
Models of transition from pediatric to adult care. Cristine Trahms, MS, RD, University of Washington
12:00
Meeting adjourned