INVITATION TO PARTICIPATE Satellite Symposium to the 12th International Congress on Inborn Errors of Metabolism
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1 CATALYZING NEW THERAPEUTIC APPROACHES 4 TH INTERNATIONAL SYMPOSIUM ON UREA CYCLE DISORDERS BARCELONA, SPAIN 1-2 SEPTEMBER 2013 INVITATION TO PARTICIPATE Satellite Symposium to the 12th International Congress on Inborn Errors of Metabolism
2 FROM THE ORGANIZERS On behalf of the Symposium Organizing Committee, the Urea Cycle Disorders Consortium, the European Registry and Network for Intoxication Type Metabolic Diseases, and the National Urea Cycle Disorders Foundation, we invite you to participate in the 4 th International Symposium on Urea Cycle Disorders to be held 1 2 September 2013 as a satellite meeting of the 12th International Congress of Inborn Errors of Metabolism in Barcelona, Spain. We are excited to be hosting this forth satellite meeting of its kind. The first international satellite on urea cycle disorders was held in Vienna, Austria in 1997, the second in Brisbane, Australia in 2003, and the third in LaJolla (San Diego), U.S.A. in 2009 attracting more than 200 participants from around the world. We are planning for even greater participation in The proceedings of these meetings formed a foundation for improved understanding of urea cycle disorders, as well as a basis for advancing research. Our vision for this fourth satellite symposium is to continue the tradition, having it serve as a catalyst for innovative collaborations and to provide stimulation for focused research over the coming years leading to new therapeutic approaches. Trainees are welcome and encouraged to attend the symposium to expand their network of UCD experts, to supplement their training and to share their work with the UCD community. The symposium will open with a welcome reception on the evening of Sunday, 1 September giving participants time to review posters submitted by trainees, catch up with old friends and colleagues, and establish new relationships. We have an outstanding scientific program planned for Monday, 2 September to spotlight the most recent research findings in basic, translational and therapeutic investigations for urea cycle disorders. The day will be divided into four sessions: 1) pathophysiological insights suggesting novel therapeutic approaches, 2) early detection and new treatment principles, 3) natural history studies around the world with focus on differences, and 4) clinical themes and patient outcomes. Posters will be presented during the lunch break, giving trainees a chance to share with each other and with senior investigators and to receive feedback. We are planning to publish the proceedings in Molecular Genetics and Metabolism. We are delighted to be hosting the symposium in Barcelona and at the Caixa Forum, a former modernist textile warehouse and current art gallery and social and cultural center located in the Montjuic area of Barcelona. We hope that you will participate in this international effort to catalyze new therapeutic approaches for urea cycle disorder and to further research to save and improve the lives of affected children and adults who look to us for hope for the future. We look forward to seeing you in Barcelona. Marshall Summar, M.D. and Stefan Kölker, M.D. Symposium Co Chairs
3 ABOUT THE SYMPOSIUM ImportantDates Registrationopensfor4thInternationalSymposiumonUreaCycle Disorders 1April2013 Callforabstractsopens 1April2013 Applicationperiodforregistrationfeewaiversopens 1April2013 Deadlineforabstractsubmissions 9May2013(midnightGMT) Deadlineforregistrationfeewaiverapplications 9May2013(midnightGMT) Deadlineforearlybirdregistration 31July2013 Registrationdeadline 31August2013 WelcomereceptionforUCDSymposiumattendees 1September2013 4thInternationalSymposiumonUreaCycleDisorders 2September thInternationalCongressonInbornErrorsofMetabolism 3 9September2013 MeetingVenue CaixaForum Av.deFrancescFerreriGuàrdia, Barcelona Phone: Website: nuestroscentros/english/caixaforumbarcelona/ caixaforumbarcelona_en.html CaixaForum,asocialandculturalcenter,withexhibi tions,contemporaryart,music,andconferencesis housedinoneofbarcelona'schiefart Nouveaubuild LaCaixaForum,Barcelona.PhotoprovidedbyCaixaForum. ingthatstandsasauniqueexampleofcatalanart Nouveauindustrialarchitectureoftheearlytwentieth century.thebuildingwasdesignedbyjoseppuigi Awardedin1912withtheCityCouncil sprizeforthe Cadafalchandcompletedin1911.Itfirstoperatedas bestindustrialbuilding,ithasbeendeclaredin1976 aspinningmillandtextilefactorybutcloseddown HistoricalArtisticMonument. justsevenyearsafteritsopening.afterthat,itwas pressedintoserviceasawarehouseduringthebarce ItislocatedintheMontjuicareaofBarcelona.Mont lonaworldfairof1929,andin1940itwasconverted juicisashortmetroridefromtheheartofbarcelona intostablesandgaragesforthenationalpoliceforce. andishometosomeofthecity'smostexcitingmuse ums,includingthemiròfoundationandpobleespan ItwaspurchasedbythebankLaCaixain1963and yol,afull sizespanishmodelvillage.it'salsothe restoredtoitsformergloryforthe1992olympic homeoftheolympicstadiumandmontjuicpalace. GamesandthentothehomeofoneofSpain'sgreat estcollectionsofmodernart,withover700exhibits spreadthroughoutthemed,temporaryexhibitions.
4 ABOUT THE SYMPOSIUM Program Lecture Title/Event Summary Speaker Sunday, September 1, :00-20:00 Welcome Reception for International Symposium on UCD (with poster session) Monday, September 2, :00- Meet the Professor Breakfast 8:00 Session 1: Pathophysiological Insights Suggesting Novel Therapeutic Approaches (Moderators: Matthias Baumgartner and Uta Lichter-Konecki) 08:00 Welcome Welcome, introductions, plan for the day Matthias Baumgartner, University Children s Hospital, Zurich (Switzerland) & Uta Lichter-Konecki, Children s National Medical Center, Washington DC (USA) 08:15 Ammonia & Glutamine Metabolism in Brain Latest understanding of mechanisms leading to NH3 and glutamine toxicity in brain Roger Butterworth, University of Montreal (Canada) 08:45 The Pathophysiology of ASA and New Therapeutic Approaches to ASA 09:15 The Impact of Novel Discoveries on Urea Cycle Disorders 09:45 Break Understanding the pathophysiology of ASA points to new, easily available therapeutics How should the new knowledge about CPSI and P5CS affect our thinking about UCDs? Sandesh C.S. Nagamani, Baylor College of Medicine, Houston (USA) Vicente Rubio, Instituto De Biomedicina De Valencia (Spain) Session 2: Early Detection and New Treatment Principles (Moderators: Johannes Häberle and Shawn McCandless) 10:00 Progress in Newborn Screening for Proximal Urea Cycle Disorders 10:30 Enzyme Replacement Therapies for UCD (Liver/ Liver Cell / Stem Cell Transplantation) 11:00 Gene Therapy in OTC: Australian & U.S. Experience 11:30 In Vivo Genome Editing with Zinc Finger Nucleases 12:00 Lunch Break and Poster Session Development of markers that enable newborn screening for OTC and CPSI How do non-conventional transplant approached compare to liver transplant? Are AAV vector based approaches ready for prime time? Does editing offer a safe and permanent solution to traditional gene replacement strategies? Dietrich Matern, Mayo Clinic, Minneapolis (USA) Pat McKiernan, Birmingham Children s Hospital (UK) Ian Alexander, The Children s Hospital at Westmead (Australia) Philip Gregory, Sangamo Bio Sciences Inc., Richmond, California (USA) Session 3: Longitudinal Studies Around the World with Focus on Differences (Moderators: Cynthia LeMons and Stephen Cederbaum) 13:00 Long-Term Outcome and Intervention of Urea Cycle Disorders in Japan 13:30 E-IMD: Expanding the Network and the Disease Panel 14:00 Longitudinal Study and the Urea Cycle Disorders Consortium Investigation of clinical symptoms, treatment, prognosis of 177 patients with UCDs treated from 1999 to 2009 Report from the European Registry and Network for Intoxication Type Metabolic Diseases More than seven years of data from the natural history, longitudinal study and other UCDC Studies Fumio Endo, Kumamoto, University School of Medicine, Kumamoto (Japan) Stefan Kölker, University Children s Hospital, Heidelberg (Germany) Marshall Summar, Children s National Medical Center, Washington DC (USA)
5 ABOUT THE SYMPOSIUM Program Lecture Title/Event Session 4: Clinical Themes and Patient Outcomes (Moderators: Stefan Kölker and Marshall Summar) 14:30 Acute Liver Damage and Long-Term Risk for Liver Carcinoma Do UCDs lead to acute and chronic liver damage with long-term risk for cancer? Renata Gallagher, Colorado Children s Hospital, Aurora (USA) 15:00 Break 15:15 Effect of High Glutamine Levels on Outcome Are we justified in focusing on glutamine levels during follow-up? Uta Lichter-Konecki, Children s National Medical Center, Washington DC (USA) Are we justified in focusing on glutamine levels during follow-up? Uta Lichter-Konecki, Children s National Medical Center, Washington DC (USA) Dietary Protein in Urea Cycle Disorders: How Much? Which? When? and How? Negative effects of excessive protein restriction in UCD Avihu Boneh, Royal Children s Hospital, Melbourne (Australia) 16:15 Neuropsychological Outcomes Results from the UCDC s longitudinal study Susan Waisbren, Boston Children s Hospital (USA) 16:45 Quality of Life and Behavioral Abnormali- Results from the E-IMD ties 17:15 Defining MRI Biomarkers for UCD Research UCDC imaging studies and the use of imaging for baseline and follow up after hyperammonemia Andrea Gropman, Children s National Medical Center, Washington DC (USA) 17:45 Discussion (END 18:00) Stefan Kölker, University Children s Hospital, Heidelberg (Germany) & Marshall Summar, Children s National Medical Center, Washington DC (USA) 15:15 Effect of High Glutamine Levels on Outcome Summary Speaker 15:45 Tapas,chocolate, ham,andfresh juiceatmercado delaboqueriain Barcelona. PhotosbyAdam Wyles. Peter Burgard, University Children s Hospital Heidelberg (Germany)
6 ABOUT THE SYMPOSIUM Registration Please register for the symposium using our on line registration form: caixaforumbarcelona/caixaforumbarcelona_en.html You will be able to register for the symposium, welcome reception, and reserve a hotel room using the website. Full registration is 170 Euro/person. Student/resident/fellow registration is 80 Euro/person. After 1 August, the registration fee will go up to 205 Euro/person for full delegates and 110 Euro/person for students, residents and fellows. Registration fees include admission to all scientific sessions and the poster hall, morning and afternoon coffee breaks, lunch, and the welcome reception where a cocktail buffet will be served. Attendance confirmation is required for the welcome reception. You are welcome to bring a guest to the welcome reception for an additional 50 Euro/person. You will also be able to reserve accommodation using the registration website. * If you would like to apply for a registration fee waiver due to financial hardship, please contact Stefan Kölker at Stefan.Koelker@med.uniheidelberg.de Hotels We have rooms reserved at two hotels convenient to Caixa Forum. You can also make your own arrangements. Please keep in mind that reserving your room directly through the hotel may allow greater flexibility in terms of cancellation, however, rates typically increase as the event date approaches. Booking through the meeting registration site will assure that you get the negotiated rate but cancellation policies may be more restrictive. Read the cancellation terms and conditions carefully. Catalonia Barcelona Plaza: barcelonaplaza.barcelonahotels.it/ Ayre Gran Via: granvia/ Hotel Distance from Caixa Forum Double Single Use Double 2 people Catalonia Barcelona Plaza 650 meters Euro Euro Ayre Gran Via 450 meters Euro Euro
7 ABOUT THE SYMPOSIUM CallforAbstracts The4thInternationalSymposiumonUreaCycleDisorderswillhaveposterpresentationsinadditiontothe invitedspeakersessions.posterswillbeondisplayattheopeningreceptiononsunday,1september,the eveningbeforethesymposium,andduringthesymposiumbuffetlunchonmonday,2september.we encourageallattendeesworkinginthefieldofureacycledisorders,tosharetheirworkwiththeircolleagues. Submission:PleasesendyoursubmissionbymidnightGMTon9May2013via toDr.Stephen Cederbaum,headofthepostersessionorganizingcommittee,withacopyJenniferSeminara,UCD Symposiumoperationsmanager. Selection:PosterswillbejudgedforappropriatenessbymembersoftheUCDSymposiumorganizing committee.correspondingauthorswillbeinformedofacceptancebywednesday,7june2013.travel awardswillbeprovidedtothetoptenabstractssubmitted.winnersfromeuropewillbeawarded$1,000 andnon Europeanwinnerswillbeawarded$2,000tofundtheirtraveltotheUCDSymposium. Posterspecificationsforselectedabstracts:Thepostersneednotbedistinctfromthosetobedisplayedat theiciemthatfollowsthesymposium.theposterspecificationsarethesameasfortheiciemsubmissions. Postersmustbeamaximumof90cmwidex150cmhigh(Portraitlayout).Pleasenotethathorizontallayout posterscannotbedisplayedaticiem2013orattheucdsatellitesymposium. Formoreinformationandsubmissionguidelines,pleasecontactJenniferSeminara. ContactInformation PleasecontactJenniferSeminarafromtheUreaCycle DisordersConsortiumforgeneralquestionsaboutthe symposium.ifyouhavequestionsaboutregistrationor hotels,pleasecontactthetechnicalsecretariat. UreaCycleDisordersConsortium JenniferSeminara Phone:(202) TechnicalSecretariat GrupoPacifico Phone: meetings.com RoofDecoration,ParcGüell.PhotobyAdamWyles.
8 Organizing Committee UCD Satellite Symposium Co Chairs Marshall Summar, M.D. Ambassador to the Symposium, Publication Subcommittee Professor, Pediatrics and Genetic Medicine, George Washington University Chief, Division of Genetics and Metabolism, Children s National Medical Center Associate Director, UCDC, Washington, D.C. Stefan Kölker, M.D. Ambassador to the Symposium, Publication Subcommittee Professor, Head of the Division of Inherited Metabolic Diseases, University Children s Hospital Coordinator, E IMD, Heidelberg, Germany UCD Satellite Symposium Scientific Program Sub Committee Uta Lichter Konecki, M.D., Ph.D. Co Chair, Scientific Program Committee Attending, Genetics and Metabolism, Children s National Medical Center Associate Professor, Pediatrics, George Washington University Site Director, UCDC, Washington, D.C. Matthias Baumgartner, M.D. Co Chair, Scientific Program Committee Professor, Pediatrics and Metabolic Diseases Director, Division of Metabolism and Swiss Newborn Screening, University Children s Hospital Zurich Site Director, UCDC; Principal nvestigator, E IMD, Zurich, Switzerland Shawn McCandless, M.D., Ph.D. Scientific Program Committee Assistant Professor of Genetics Case Western Reserve University Center for Human Genetics Site Director, UCDC, Cleveland, Ohio Johannes Häberle Scientific Program Committee Professor, University Children s Hospital, Zurich, Switzerland ABOUT THE ORGANIZERS Organizing Committee Members and Roles Cynthia LeMons Advisor, Abstract Review Subcommittee Executive Director, National Urea Cycle Disorders Foundation, Pasadena, California Stephen Cederbaum, M.D. Advisor, Abstract Review Subcommittee Emeritus Professor, Psychiatry and Pediatrics, University of California, Los Angeles, California Andrea Gropman, M.D., FAAP, FACMG Advisor, Abstract Review Subcommittee, Neuroscience Liaison Associate Professor of Neurology and Pediatrics, George Washington University Department of Neurology, Children s National Medical Center Principal Investigator, Neuroimaging, UCDC, Washington, D.C. Peter Burgard, Ph.D. Advisor Consultant, Pediatric Psychology, University Children s Hospital Co Investigator, UCDC and E IMD, Heidelberg, Germany Angeles Garcia Cazorla, M.D. Advisor, Liaison to ICIEM Organizing Committee Barcelona, Spain Vicente Rubio, M.D. Advisor Professor, Instituto De Biomedicina De Valencia (IBV), CSIC Principal Investigator, E IMD, Valencia, Spain Jennifer Seminara, M.P.H, CCRP Operations, Secretariat Program Manager, UCDC, Washington, D.C. Samantha Parker Operations Director of External Affairs and Rare Disease Partnerships, Orphan Europe, Paris, France
9 ABOUT THE ORGANIZERS The 4 th International Symposium on Urea Cycle Disorders is organized jointly by the UCDC, E IMD and NUCDF The Urea Cycle Disorders Consortium (UCDC) was founded in 2003 as one of the original consortia of the NIHfunded Rare Diseases Clinical Research Network. The UCDC works to improve the lives of individuals and families affected by urea cycle disorders through research and education. The UCDC conducts a natural history, longitudinal study to develop a better understanding of UCD treatments and a deeper scientific understanding UCDs and UCD outcomes, including how UCDs cause brain damage and how to develop protection against this. The UCDC also conducts clinical trials of promising new drugs for the treatment of UCD. The Consortium constructs and maintain resources with significant information for clinicians, researchers, and patients and trains physicians to become experts in providing care for and treating those with UCD. The European Registry and Network for Intoxication Type Metabolic Disorders (E IMD) receives received funding from the European Union in the framework of the Health Programme. Its aim is to promote health for individuals affected with an organic aciduria (OAD) or with a urea cycle defect (UCD). The network has two major activities. The first is to establish a European patient registry and the second is to provide European evidence based consensus care protocols. The National Urea Cycle Disorders Foundation (NUCDF) is a nonprofit organization dedicated to the identification, treatment and cure of urea cycle disorders. Committed to saving children and adults from the catastrophic effects of UCDs, NUCDF is a lifeline to families and medical professionals all over the world seeking crisis intervention, support and treatment information. The Foundation provides information to affected patients and families, promotes education for healthcare professionals on the identification, diagnosis and treatment of the disorder, stimulates and supports critical research, increases public awareness and educates legislators on the needs of UCD patients and families. NUCDF is dedicated to the development and support of multidisciplinary medical and clinical professionals, advocates, policymakers, industry and consumers working together to improve outcomes for persons affected with urea cycle disorders. ABOUT THE INTERNATIONAL CONGRESS The International Congress on Inborn Errors of Metabolism (ICIEM) is held every three years and is designed to bring the best scientists and physicians dedicated to inborn errors from around the world together to discuss advances in the understanding, diagnosis and treatment of this family of conditions. The sponsoring society s board of directors is made up of the heads of the various national and international organizations dedicated to inborn errors and the sites for the meeting rotate around the globe to maximize the opportunities for more junior colleagues to attend. This year s meeting is sponsored by the Society for Inherited Metabolic Disorders. ENDORSING ORGANIZATIONS Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network European Registry and Network for Inherited Metabolic Disorders National Urea Cycle Disorders Foundation National Institutes of Health Office of Rare Diseases International Congress of Inborn Errors of Metabolism
INVITATION TO PARTICIPATE Satellite Symposium to the 12th International Congress on Inborn Errors of Metabolism
CATALYZING NEW THERAPEUTIC APPROACHES 4 TH INTERNATIONAL SYMPOSIUM ON UREA CYCLE DISORDERS 1-2 SEPTEMBER 2013 BARCELONA, SPAIN INVITATION TO PARTICIPATE Satellite Symposium to the 12th International Congress
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