Patient-Expert Meeting 2017
|Date:||Monday 4th September 2017|
|Time:||8:00am – 18:00pm|
|Location:||The Windsor Convention and Expo Center
R. Martinho de Mesquita, 129 – Bloco 2 – Barra da Tijuca, Rio de Janeiro – RJ, 22620-220
The 1st International Homocystinurias Patient-Expert Meeting was held in Prague, Czech Republic last year on International Rare Disease Day. It was a collaborative effort between HCU Network Australia and the European Network and Registry for homocystinurias and methylation defects (E-HOD) and stands out as a success. The event provided a platform for the exchange of patient experiences and needs by establishing a specialised forum to bring together patients, clinicians and researchers.
Watch last year’s highlights:
In Rio, we are excited to welcome back many of the clinicians and researchers who presented at last year’s meeting. We are also delighted to welcome all new speakers to the programme.
We look forward to seeing you there.
Tara Morrison, HCU Network Australia Director and Chair
Prof. Henk Blom, E-HOD coordinator, University Medical Centre Freiburg, Germany
Prof. Ida Schwartz, Medical Genetics Service – HCPA, Genetics Department – UFRGS, Brazil
The Patient-Expert Meeting is generously supported by:
Detalhes do encontro:
|Data:||Segunda-feira, 4 de Setembro de 2017|
|Horário:||8:00 – 18:00|
|Local:||The Windsor Convention and Expo Center
R. Martinho de Mesquita, 129 – Bloco 2 – Barra da Tijuca, Rio de Janeiro – RJ, 22620-220
O Primeiro Encontro Internacional de Especialistas e Pacientes com Homocistinúrias realizado em Praga, República Checa, em 2016, no Dia Internacional das Doenças Raras. Foi um esforço colaborativo entre a HCU Network Australia e a Rede e o Registro Europeu para Homocistinurias e Defeitos de Metilação (E-HOD). O evento proporcionou uma plataforma para o intercâmbio de experiências e necessidades dos pacientes, estabelecendo um fórum especializado para reunir pacientes, profissionais de saúde e pesquisadores.
Veja os destaques do ano passado:
Estamos felizes por agradecer os profissionais e pesquisadores que participaram do encontro em Praga e felizes por receber todos os novos palestrantes.
Estamos ansiosos para encontrá-lo no Rio de Janeiro.
Tara Morrison, Diretora e Presidente da HCU Network Australia.
Prof. Henk Blom, Coordenador do E-HOD, University Medical Centre Freiburg, Alemanha.
Prof. Ida Schwartz, Serviço de Genética Médica – HCPA, Departamento de Genética – UFRGS, Brasil
O Patient-Expert Meeting é generosamente apoiado por:
For sponsorship opportunities please contact Tara Morrison at email@example.com.
Please note the programme is subject to change.
JOINT STREAM | Chair: Prof. Ida Schwartz
|8.45 – 8.50||Welcome||Prof. Henk Blom, Freiburg, Germany, Dr. Ida Shwartz, Brazil, Tara Morrison, Sydney, Australia|
|8.50 – 9.00||Introduction to Homocystinurias and EHOD||Prof. Henk Blom, Freiburg, Germany|
|9.00 – 9.20||Quality of Life in Homocystinuria patients||Prof. Ida Schwartz, Porto Alegre, Brazil|
|9.20 – 9.40||Guidelines for the diagnosis and management of CBS deficiency||Dr. Andrew Morris, Manchester, UK|
|9.40 – 10.00||Guidelines for diagnosis and management of the cobalamin related remethylation disorders and MTHFR deficiency||Prof. Matthias Baumgartner, Zurich, Switzerland|
|10.00 – 10.20||Qatar: A unique experience||Dr. Tawfeg Ben-Omran, Doha, Qatar|
10.20 – 10.40 COFFEE BREAK
|10.40 – 11.00||An overview of how our understanding has developed and current knowledge for CBS deficiency||Prof. Bridget Wilcken, Sydney, Australia|
|11.00 – 11.20||Looking forward: Enzyme Replacement Therapy for CBS deficiency||Prof. Jan Kraus, Denver, USA|
|11.20 – 11.40||Strategies to Repair Mutant CBS Proteins||Prof. Warren Kruger, Philadelphia, USA|
|11.40 – 12.00||Research strategy, priorities and aims: a patient organisation approach||Margie McGlynn, Flourtown, USA|
12.00 – 13.30 INTERACTIVE LUNCH
|13.30 – 14.30||CBS deficiency Panel Discussion: Q & A
Chair: Dr. Kaustuv Bhattacharya, Sydney, Australia
|Prof. Bridget Wilcken, Sydney, Australia
Prof. Ida Schwartz, Porto Alegre, Brazil
Prof. Viktor Kožich , Prague, Czech Republic
Dr. Andrew Morris, Manchester, UK
Patient advocate TBC
|14.30 – 15.00||CblC and MTHFR Panel Discussion: Q & A
Chair: Dr. Kaustuv Bhattacharya, Sydney, Australia
Dr. Carlo Dionisi Vici, Rome, Italy
15.00 – 15.30 COFFEE
SCIENTIFIC STREAM | Chair: Prof. Henk Blom
|15.30 – 15.50||Hydrogen sulfide metabolism in homocystinurias||Prof. Viktor Kožich , Prague, Czech Republic|
|15.50 – 16.10||Animal models of combined methylmalonic acidemia and homocystinemia cblC type: insights into disease pathophysiology and development of new therapies||Dr. Jennifer Sloan, Bethesda, USA|
|16.10 – 16.30||Mouse models of CBS deficiency: What have we learned?||Prof. Warren Kruger, Philadelphia, USA|
|16.30 – 16.50||Homocysteine and Psychiatric Disorders||Dr. Vania Almeida, São Paulo, Brazil|
|16.50 – 17.10||First results CblC disease from EHOD registry||Dr. Carlo Dionisi Vici, Rome, Italy|
|17.10 – 17.30||Preliminary data on CBS deficiency from EHOD registry||Prof. Viktor Kožich , Prague, Czech Republic|
|17.30 – 17.50||Consequences of the complex regulation of homocysteine metabolism||Prof. Henk Blom, Freiburg, Germany|
|17.50 – 18.00||Closing remarks|
PATIENT STREAM | Chair: Tara Morrison
|15.30 – 16.10||Novel patient organisations:
What is available and what is planned for the future:
|HCU Network Australia
HCU Network America
Associação Brasileira de Homocistinuria
|Tara Morrison, Sydney, Australia
Margie McGlynn, Flourtown, USA
Simone Arede, Rio de Janeiro, Brazil
Luana Brito, Salvador, Brazil
|16.10 – 16.30||Patient care in Brazil: opportunities and challenges||Dr. Soraia Poloni, Porto Alegre, Brazil|
|16.30 – 16.40||Quiz||Bruna Santos and Claudio Lobato, Porto Alegre, Brazil|
|16.40 – 17.00||Mental health, behaviour challenges and strategies for management||Dr. Raffael Massuda, Curitiba, Brazil|
|17.00 – 17.20||Dietary intervention in CBS deficiency||Beatriz Frangipani, São Paulo, Brazil|
|17.20 – 17.40||Clinical management of cblC deficiency: experience from a US natural history study||Dr. Irini Manoli, Bethesda, USA|
|17.40 – 18.00||Importance of Natural History Studies and Registries in the homocystinurias||Prof. Harvey Levy, Boston, USA|
Please note the programme is subject to change.
08.45 Sessão Conjunta | Coordenador: Prof. Ida Schwartz,(Porto Alegre, Brasil)
|8.45 – 9.00||Abertura- Introdução às homocistinúrias e E-HOD.||H Blom, Freiburg, Alemanha|
|9.00 – 9.20||Qualidade de vida em pacientes com homocistinúria||I Schwartz, Porto Alegre, Brasil|
|9.20 – 9.40||Diretrizes para o diagnóstico e acompanhamento da Homocistinúria Clássica (deficiência de CBS)||A Morris, Manchester, Reino Unido|
|9.40 – 10.00||Diretrizes para o diagnóstico e acompanhamento dos distúrbios de remetilação relacionados com cobalamina e deficiência de MTHFR||M Baumgartner, Zurique, Suíça|
|10.00 – 10.20||Qatar: uma experiência única||T Ben-Omran, Daha, Qatar|
10.20 – 10.40 COFFEE BREAK
|10.40 – 11.00||Homocistinúria por Deficiência de CBS (Homocistinúria Clássica): histórico e panorama atual||B Wilcken, Sydney, Austrália|
|11.00 – 11.20||Perspectivas futuras: Terapia de Reposição de Enzima para deficiência de CBS (Homocistinúria Clássica)||J Kraus, Denver, EUA|
|11.20 – 11.40||Estratégias para Reparo de Proteínas CBS Mutantes||W Kruger, Philadelphia, EUA|
|11.40 – 12.00||Prioridades e estratégias em pesquisa: a visão das organizações de pacientes||M McGlynn, Flourtown,USA|
12.00 – 13.30 ALMOÇO INTERATIVO
|13.30 – 14.30||Painel de Discussão – Deficiência de CBS (Homocistinúria Clássica): perguntas e respostas
Coordenador: K Bhattacharya (Sydney, Austrália)
|Membros: B Wilcken (Sydney, Austrália)
I Schwartz (Porto Alegre, Brasil)
V Kozich (Praga, Republica Checa)
A Morris (Manchester, Reino Unido)
Representante de pacientes
|14.30 – 15.00||Painel de Discussão – CblC e MTHFR: perguntas e respostas
Coordenador: K Bhattacharya (Sydney, Austrália)
Membros: M Baumgartner (Zurique, Suíça)
15.00 – 15.30 COFFEE
Sessão Científica | Coordenador: H Blom, Freiburg, Alemanha
|15.30 – 15.50||Triagem neonatal para homocistinúrias e distúrbios de metilação||V Kozich, Praga, República Checa|
|15.50 – 16.10||Título a ser definido||J Sloan, Bethesda, EUA|
|16.10 – 16.30||Modelos animais com deficiência de CBS: O que aprendemos?||W Kruger, Philadelphia, EUA|
|16.30 – 16.50||Homocisteína e distúrbios psiquiátricos||V Almeida, São Paulo, Brasil|
|16.50 – 17.10||CblC – primeiros resultados do EHOD||C Dionisi Vici, Roma, Itália|
|17.10 – 17.30||Metabolismo do sulfato de hidrogênio nas homocistinúrias||V Kozich, Praga, República Checa|
|17.30 – 17.50||Consequências da regulação complexa do metabolismo da homocisteína||H Blom, Freiburg, Alemanha|
|17.50 – 18.00||Encerramento|
Sessão de Pacientes | Coordenador: T Morrison (Sydney, Austrália)
|15.30 – 16.00||Novas organizações de pacientes: O que está disponível e o que está planejado para o futuro:|
|HCU Network Austrália
HCU Network América
Associação Brasileira de Homocistinuria
|T Morrison, Sydney, Austrália
M McGlynn, Pennsylvania, EUA
S Arede, Rio de Janeiro, Brasil
|16.00 – 16.20||Assistência ao paciente no Brasil: oportunidades e desafios||S Poloni, Porto Alegre, Brasil|
|16.20 – 16.30||Recreação||B Santos e Cl Lobato, Porto Alegre, Brasil|
|16.30 – 16.50||Saúde mental e comportamento: Desafios e estratégias de gestão||R Massuda, Curitiba, Brazil|
|16.50 – 17.10||Intervenção dietética na deficiência de CBS (Homocistinúria Clássica)||B Frangipani, São Paulo, Brasil|
|17.10 – 17.30||Manejo clínico da deficiência de CblC: experiência de um estudo de história natural dos EUA||I Manoli, Bethesda, MD, EUA|
|17.30 – 17.50||Importância dos estudos e registros de historia natural nas homocistinúrias||H Levy, Boston, EUA|
|17.50 – 18.00||Encerramento|
The Patient-Expert Meeting is a collaborative venture organised by HCU Network Australia, the European Network and Registry for Homoystinurias and Methylation Defects (E-HOD) and the ICIEM local organizing committee. It is generously sponsored by HCU Network Australia, Recordati Rare Disease Foundation, Orphan Technologies, Erytech and Recordati Rare Diseases do Brasil.
HCU Network Australia
HCU Network Australia is a national, charitable organisation established in 2014 with a vision “to be a driving force in the journey to a cure, improving quality of life along the way”. This overarching vision informs the direction of HCU Network, inspiring and motivating all who are involved with its activities.
Our priorities are to:
- Connect and support people impacted by homocystinuria;
- Improve the diagnosis path to enable appropriate treatment;
- Provide education and information to people impacted by homocystinuria;
- Encourage and support clinical research, research for novel therapies and ultimately a cure; and
- Raise funds to achieve our objectives.
HCU Network Australia is governed by an Executive Committee. We are registered and classified as a Health Promotion Charity by the Australian Government. We are also endorsed with Deductible Gift Recipient (DGR) status by the Australian Taxation Office.
HCU Network Australia hopes to achieve meaningful progress for the HCU community and raise awareness of the unmet needs of those a affected by the disorder.
The Recordati Rare Diseases Foundation promotes the accurate diagnosis and care of patients affected by a rare disease. To achieve this, the Foundation facilitates the organisation of independent training and education in rare diseases; organised by healthcare professionals for healthcare professionals. It does this by:
- Providing up-to-date training on when to suspect a rare disease, diagnostics, clinical presentation, best care and current treatment strategies in order to improve rare disease recognition and management in the medical setting.
- Sharing experience in the management and outcome of rare diseases where individual experience is by their nature limited.
- Improving dialogue between different medical specialities, particularly in multi-system diseases.
- Strengthening scientific collaboration and encouraging research in rare diseases.
The rarity of patients and the high phenotypic heterogeneity of rare diseases, combined with the lack of knowledge, information and training result in frequent delays in correct diagnosis and installation of appropriate care and treatment. Teaching courses focusing on rare diseases are very sparse.
Junior doctors and scientists attending the foundation learn from the experience of renowned international experts and discuss cases that were previously a mystery to healthcare professionals entering the field. As a consequence they are more able to care for their patients with rare disorders.
In the more specialist and advanced courses, the sharing of information and experience improves recognition of rare conditions and ultimately improves the management and outcome of patients.
The Recordati Rare Diseases foundation’s goals and ambitions for the future are also an increased collaboration with patient associations, to contribute in reaching out and creating awareness, not only to healthcare professionals but also to patients and the general public.
Orphan Technologies is dedicated to developing novel therapies to dramatically improve the lives of patients suffering from rare disorders. OT-58, our lead drug development candidate, has been optimized as an enzyme replacement therapy for classical homocystinuria, a genetic disease characterized by debilitating cardiovascular, skeletal, neurologic, and ophthalmologic complications. OT-58 is designed to reduce homocysteine levels via a targeted mechanism of action and may have therapeutic applications in other diseases. For more information, please visit www.orphantechnologies.com
ERYTECH is a clinical-stage biopharmaceutical company developing innovative therapies for rare forms of cancer and orphan diseases. Leveraging its proprietary ERYCAPS platform, which uses a novel technology to encapsulate therapeutic drug substances inside red blood cells, ERYTECH has developed a pipeline of product candidates targeting markets with high unmet medical needs.
Recordati Rare Diseases do Brasil is the subsidiary of Orphan Europe, an European company dedicated to provide innovative therapies for rare diseases, like Porphyrias, Cystinosis, Homocystinuria and Hyperammonaemia due to NAGS/CPS1 deficiencies among others.
CMW SAÚDE is a company specialized in nutrition that offers the ideal solution in highly specialized niches, providing innovative products of recognized quality, with efficiency and professionalism. Our Mission is innovate permanently, bringing the best and most appropriate solutions in products and services to its customers through a highly motivated and qualified team. For more information:- www.cmwsaude.com.br.
A special thanks
Special thanks to Emerge Health for logistical support and Cambrooke Therapeutics and Nutricia for providing low protein food for the enjoyment of our guests.
Emerge Health is an innovative Australian pharmaceutical company focused on providing access to specialised medicines into the hospital sector. Emerge Health is dedicated to supporting patients in hospital care, striving to ensure continuous access to crucial medicines at sustainable prices. Our broad range portfolio consists of high quality products that include medicines used to treat rare diseases as well as various metabolic, paediatric and neonatal conditions. Our products are sourced from reputable global pharmaceutical manufacturers that comply with Good Manufacturing Practice.
For more information, please visit Emerge Health’s website at www.emergehealth.com.au.
Leaders in Therapeutic Medical Nutrition
Cambrooke Therapeutics was founded by Lynn and David Paolella in 2000, the parents of two children diagnosed with phenylketonuria (PKU), one of the few genetic diseases, which is managed almost entirely with nutritional intervention. The Paolellas’ goal in forming Cambrooke was simple – to develop improved nutritional therapeutic options for those that live with serious metabolic disorders.
Cambrooke produces medical formulas and low protein foods for the management of a variety of medical conditions and we are continually innovating new nutritional options targeted at a wide array of diseases.
- Cambrooke collaborates with academia and industry partners to transform early phase development projects in therapeutic nutrition into viable commercial products.
- Cambrooke employs scientific experts in the development, manufacturing and commercialization of nutritional therapeutics for patients with rare diseases.
- Cambrooke’s products are supported by clinical evidence for the nutritional management of medical needs before they are selected for commercialization.
- Cambrooke believes that both large and small patient populations are important when it comes to complex nutritional requirements.
Lynn Paolella is co-founder of Cambrooke Therapeutics and represents the heart and soul of Cambrooke’s mission. Originally inspired to feed her two children who have PKU, Lynn’s passion for feeding others keeps her at the forefront of food science and processing technology.
A recognized leader in the PKU community, Lynn continues to focus refining existing product formulations while working with the Cambrooke team to develop new and innovative product ideas. Amongst her roles, she serves as a support group liaison that provides support and patient advocacy while building strong metabolic community ties to both the families and the clinicians that serve them throughout the US and abroad. Her efforts on a national and international level keep her connected to leading researchers and health care providers in the rare disease space.
Nutricia Metabolics has been a pioneer within the metabolics category for more than 50 years. Our unique product range is designed to give healthcare professionals and patients the scope to select nutritional solutions that support specific requirements across every stage of life and fit in with individual needs. We are focussed on developing products that offer valuable improvements in dietary management, working with the latest scientific evidence and thinking. We are committed to improving the lives of those with inborn errors of metabolism by providing new, innovative and convenient products to help people with long-term diet compliance.
Beyond just products, our services including our home delivery and online resources, provide support for the management of metabolic conditions to make the lives of patients and their families a little easier.
At Nutricia Metabolics our vision is to be the trusted lifetime partner, providing innovative solutions for people with inborn errors of metabolism, inspiring them to reach their potential and fulfil their dreams.
Dr. Carlo Dionisi-Vici
Dr. Carlo Dionisi-Vici, paediatrician is Head of the Unit of Metabolic Disease at the Bambino Gesù Children’s Research Hospital in Rome, Italy; is President of the Italian Society for Inborn Errors of Metabolism and Neonatal Screening (SIMMESN) and Council member of the Society for the Study of Inborn Errors of Metabolism (SSIEM). His clinical and research focus includes organic acidemias, urea cycle defects, homocystinurias, management of metabolic emergencies, mitochondrial and lysosomal disorders and hyperinsulinism. He has conducted translational research for the development of guidelines in inborn errors of metabolism and applied new technologies to improve diagnosis, prevention and treatment of metabolic diseases.
Dr. Tawfeg Ben-Omran
Dr. Ben-Omran received his speciality training in clinical & metabolic genetics at the Hospital for Sick Children, University of Toronto, Canada. He has obtained both FRCPS & FCCMG in Medical Genetics in 2006. Currently, he is a senior consultant and Head of Clinical and Metabolic Genetics at Hamad Medical Corporation. He is an Associate Professor at Weill Cornell Medical College, Qatar & New York-USA. He is also a Distinguished Visiting Scientist at Boston Children’s Hospital-USA.
He contributes to the body of published knowledge in clinical and metabolic genetics, with over 60 published articles in peer reviewed journals, book chapters and abstracts. He is reviewer for many clinical genetics journals.
He is an active clinical researcher, collaborating on projects with local, regional & international communities. He is a lead primary investigator in many high profile research projects & clinical trials to evaluate the long-term effects of enzyme replacement therapy in patients with different lysosomal storage disorders. His main scientific interests include genetics of brain malformation& microcephaly, white matter disorders, dysmorphology, autosomal recessive disorders. In addition, Dr. Ben-Omran is an external advisor and expert for E-HOD (European registry and network for homocystinurias and methylation defects).
He is recognized as an expert in genetic disorders of the Arab population. His national & international presence is clear. In 2013, he received the “Princess Aljawhara Center Award for The Best Research in Basic Genetics” the most competitive & prestigious awards. He received Research Award from MRC-HMC for Homocystinuria project and Stars of Excellence Award 2011 for both Pioneering Newborn Screening & specialized care of Genetic Diseases in the Middle East. Recently, awarded the Stars of Excellence in research 2014: Cutting Edge of Research in Medical Genetics.
He has memberships in many societies including: American Society of Human Genetics, European Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism, Middle East Metabolic Genetic Group, the Middle East & North Africa Newborn Screening Initiative, Middle Eastern Lysosomal Storage Diseases Expert Council Advisory Board, Child Health Research Advisory Committee, International Society for Prenatal Diagnosis, Chairman of Middle East Metabolic Dieticians Group & Founder Member & Regional Representative of SSIEM Adult Metabolic Physicians Group.
Dr. Andrew Morris
Andrew Morris is a Consultant and Senior Lecturer in Paediatric Metabolic Medicine. He works on the Willink Metabolic Unit, which is part of Genomic Medicine in the Central Manchester University Hospitals and serves the North of England through a clinical network. He was previously a consultant in Newcastle-upon-Tyne and at Great Ormond Street Hospital in London. His research has primarily concerned mitochondrial disorders and fatty acid oxidation defects but he has wide experience of inborn errors of metabolism and a particular interest in teaching. He was Leader of the Classical Homocystinuria Guidelines Group for E-HOD, the European Network and Registry for Homocysinurias and Methylation Defects.
Tara Morrison is director and chair of HCU Network Australia. Her connection to this disorder is a personal one: her two sons were diagnosed with Classical Homocystinuria at ages 5 and 1 years. At the time of diagnosis the Morrison Family were left with many unanswered questions. Their response has been to try and change this experience for others.
In 2014 Tara founded HCU Network Australia and serves voluntarily as Director and Chair of the Board. She is eager to utilize her personal and professional experience to achieve real outcomes for individuals affected by the disorder and their families.
Tara has practiced law in private practice for the past 10 years. She has worked in a range of areas and specializes in family law and building and construction. Tara holds a double degree in Arts and Law. She is a solicitor admitted in NSW and the High Court of Australia.
Margaret (Margie) McGlynn is President of the Board of HCU Network America, a patient advocacy organization she co-founded to provide support for patients and families affected by homocystinuria. She is also President of the Hempling Foundation for Homocystinuria Research, a fund she established to support research on new therapies for HCU in honor of her late sisters, Judy and Susie Hempling. Judy and Susie passed away due to homocystinuria in the early 1970s and Margie is committed to finding a cure for homocystinuria so that someday no children will suffer like her sisters did, and no families will need to deal with the impact of this devastating illness on their family members or the fear of passing the disease along to additional offspring.
After receiving a BS in Pharmacy and an MBA in Marketing from The University at Buffalo, Margie spent 26 years at Merck where she served in leadership roles in marketing, new product development and managed care, last serving as President, Global Vaccines and Anti-Infectives. After retiring from Merck, Margie served for 4 years as President and Chief Executive Officer of the International AIDS Vaccine Initiative (IAVI), a Product Development Partnership which helps accelerate HIV vaccine development by bridging government and philanthropic funding with academic and industry vaccine research and development capabilities. Margie also serves on the boards of, Vertex Pharmaceuticals, Amicus Therapeutics, Orphan Technologies, and Air Products and Chemicals.
Prof. Matthias R. Baumgartner
Matthias Baumgartner studied Medicine at the University of Basel, Switzerland, where he earned his degree as a medical doctor in 1992. He then went on to do a postgraduate course in experimental medicine and biology at the University of Zurich followed by laboratory work at the Biocentre of the University of Basel. After completing his residency in pediatrics at the University Children’s Hospital Basel and at Hôpital Necker – Enfants Malades in Paris, Prof. Baumgartner continued his training in the United States, where he worked as postdoctoral und clinical fellow at the Mc Kusick-Nathans Institute of Genetic Medicine at Johns Hopkins University, Baltimore, from 1999-2001. He returned to Basel to lead the Metabolic Unit at the University Children’s Hospital. 2 years later Prof. Baumgartner joined the Division of Metabolism & Molecular Pediatrics at the University Children’s Hospital in Zurich. After his habilitation in 2005 he was elected as professor for metabolic diseases at the University of Zurich in 2008. Prof. Baumgartner is head of the Division for Metabolic Diseases und Medical Director of the Swiss Newborn Screening Program at the Kinderspital Zürich. Since 2012 he leads the clinical research priority program “Rare Disease Initiative Zurich – radiz” at the University of Zurich. Prof. Baumgartner is an internationally known metabolic paediatrician and scientist with a main research interest in disorders of intracellular cobalamin metabolism including the homocystinurias and methylmalonic acidurias; he is a steering committee member of the European networks and registries for Homocystinurias and remethylation disorders (E-HOD, www.e-hod.org) and Intoxication type Metabolic Diseases (E-IMD, www.e-imd.org) and an editor of the Journal of Inherited Metabolic Disease.
Prof. Viktor Kožich
Professor Kožich graduated from the School of General Medicine, Charles University in Prague in 1985. Since his graduation he has been working in the Institute of Inherited Metabolic Diseases and he specialized in clinical biochemistry and medical genetics, in 2012 he became the full Professor of Medical Genetics.
His main interests are genetic, biochemical, clinical, epidemiological and ethical aspects of inherited metabolic disorders with a special interest in disorders of homocysteine metabolism and namely in cystathionine beta-synthase deficiency—a disease in which he became interested in 1991-1992 during his fellowship in the laboratory of Prof.Jan P.Kraus (University of Colorado School of Medicine in Denver, USA). Prof.Kožich is also involved in organization of neonatal screening and serves as a Chairman of the national Coordination Center on Neonatal Screening in the Czech Republic.
Professor Kožich has been a tutor of graduate and postgraduate students, he is an author of over 100 publications in peer reviewed international journals, several chapters in books, and of articles and chapters in Czech medical literature; he has been an invited speaker at various international and national conferences. He is a member of councils of several international learned societies (SSIEM, ERNDIM, and ESHG) and he is active in peer review system at both the national and international levels.
Prof. Henk Blom
Henk Blom finished his Chemistry study in 1985 and received his PhD in 1988 at the Radboud University Nijmegen. After his post-doc period at the Human Genetics Branch, NIH, USA (William Gahl), he became post-doc in 1990 and later in 1992 staff member of the Clinical Genetics Center Nijmegen at Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, the Netherlands. In 1997 he became Established Investigator of the Netherlands Heart Foundation and in 2003 he was registered as Clinical Biochemical Geneticist. In 2007 he was appointed as vice-head and later head of the Metabolic Unit at the Department Clinical Chemistry, VU University Medical Centre Amsterdam, the Netherlands and in 2009 he became Professor in Biochemistry of Inherited Metabolic Diseases at the VU University Medical Centre Amsterdam. Since 2014 he is head of the laboratory for Clinical Biochemistry and Metabolism, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine University Hospital Freiburg, Germany.
His research concerns inborn errors of metabolism with special focus on inherited defects of homocysteine, methylation and folate metabolism. His contributions include the association of a disturbed homocysteine metabolism with pregnancy complications, including neural tube defects, cardiovascular disease, thrombosis and stroke in children. He investigated the genetic etiology of thermolabile MTHFR, which resulted in the discovery of the MTHFR 677C>T variant which is the first identified genetic risk factor for neural tube defects. Basic research concerned the effects of homocysteine and its metabolites on development of chicken embryos and endothelial function.
Among inborn errors of metabolism his group described the molecular basis of severe hyperhomocysteinemia. They also explored cystinosis and defects in the methionine methylation pathway, including methionine adenosyltransferase deficiency. They discovered two new genetic defects: one in folate metabolism: dihydrofolate reductase deficiency and one defect in methylation: adenosine kinase deficiency. Prof Henk Blom is coordinator of E-HOD, an international consortium on homocystinurias and methylation disorders. In 2017 the consortium consisted of almost 100 partners. Main achievements are the setup of the E-HOD registry (www.EHOD-registry.org) and website (www.E-HOD.org) with information for expert as well as patients and their families. In addition four guideline manuscripts have been published, teaching courses and Patient – Expert Meetings organized.
He supervised as (co)promoter of 31 PhD students and published over 350 papers in international journals resulting in an H-index of 72.
Prof. Bridget Wilcken
Professor Bridget Wilcken graduated in medicine from Edinburgh University. She has over 40 years’ experience in the investigation and treatment of patients with inborn errors of metabolism. Until 2012 she was Clinical Director of the New South Wales Biochemical Genetics and Newborn Screening Services at the Children’s Hospital at Westmead, Sydney, and is currently a part-time metabolic physician at Sydney Children’s Hospital. Research has been mainly in the general area of newborn screening, especially screening for cystic fibrosis and expanded screening by tandem mass spectrometry. She is former President of the Human Genetics Society of Australasia, the International Society for Neonatal Screening (ISNS), and the Australasian Society for Inborn Errors of Metabolism. She has been awarded the Order of Australia and the Guthrie Medal of the ISNS for services to newborn screening.
Dr. Warren Kruger
Dr. Warren Kruger graduated magna cum laude from Cornell, received his Ph.D in Biochemistry from the University of California, and was a Postdoctoral Fellow in the Department of Genetics at Stanford University. He is currently a full professor in the Cancer Biology program at Fox Chase Cancer Center, where he has been since 1995. His lab focuses on the study of sulfur amino acid metabolism and its relationship to human health and disease. He has worked on CBS deficiency since 1992, where he showed that human CBS could functionally substitute for the yeast enzyme. A key discovery made to Dr. Kruger was the finding that most patient-derived mutant CBS proteins have “cryptic” enzyme activity which can be uncovered by various genetic and pharmacologic manipulations. Also, Dr. Kruger’s lab has created several different mouse models of CBS deficiency that are used widely in the field. He has published more than 80 peer reviewed papers, been an invited speaker at numerous international conferences, and has obtained research grants from a wide variety of sources, including the National Institutes of Health, Department of Defense, American Cancer Society, and American Heart Association.
Soraia Poloni has a Bachelor’s in Nutrition from the Universidade Federal do Rio Grande do Sul, UFRGS, Porto Alegre, Brazil, a PhD in Genetics and Molecular Biology and is a researcher at Hospital de Clínicas de Porto Alegre in Brazil.
Since 2010, I have been developing my research in the field of homocysteine disorders, focusing on metabolic and genetic aspects of CBS deficiency. Our research developed at the Hospital de Clínicas de Porto Alegre (Brazil), provided the most wide-ranging clinical and genetic characterization of HCU patients in Brazil to date. Also, we described novel aspects of lipid metabolism in this disease. Our research center, headed by Prof Ida Schwartz, also participates of the EHOD registry and develops several research collaborations with the University of Freiburg (Prof. Henk Blom) in the study of homocystinurias and methylation defects.
Dr. Vania Almeida
Graduate in Biological Sciences at Universidade Mackenzie (1984), Master in Biochemistry at Universidade Federal de São Paulo (1988) and PhD in Biochemistry at Universidade Federal de São Paulo (1993). Associate Professor at Universidade Federal de São Paulo and Coordinator of the Graduation Program in Psychobiology at UNIFESP. She has authored over 150 papers, supervised over 40 MSc and PhD. Has experience in Biochemistry and Genetics, mainly on the following subjects: homocysteine, oxidative stress, epigenetics, inborn errors of metabolism and lysosomal storage diseases.
Beatriz Jurkiewicz Frangipani graduated in nutrition in 1990 from São Camilo University in São Paulo. In the same year she started to work with PKU at APAE-SP – Association of Parents and Friends of Children with Disabilities, currently a Reference Service in Newborn Screening.
In 2001 she became a member of the National Program for Newborn Screening of Health Ministry. She trained dietitians from other Brazilian states to qualify them to follow new PKU cases in accredited Reference Services throughout the country. She is currently working at a Reference Center for Inborn errors of metabolism (CREIM), at Federal University of São Paulo, treating patients with organic acidemias, aminoacidopathies, urea cycle disorders, homocystinurias, galactosemia, Glycogenosis, hereditary fructose intolerance, Ketogenic diet and metabolic emergencies diet management . She has been working with patients with homocystinurias for 20 years and she is currently treating 23 patients.
Dr. Harvey Levy
Dr. Harvey Levy is Senior Physician in Medicine/Genetics at Boston Children’s Hospital and Professor of Pediatrics at Harvard Medical School. He has devoted his career of 50 years to the diagnosis, research, and treatment of metabolic disorders.
Dr. Levy developed a specific interest in Homocystinuria during his fellowship in metabolism when he identified the first case of CBS deficiency diagnosed from newborn screening. Shortly thereafter he and Dr. Harvey Mudd discovered homocystinuria not due to CBS deficiency but to a disorder now known as cobalamin C (cblC) defect, the first example of a metabolic disorder of vitamin B12 in the human. Disorders of sulfur metabolism have continued to be a major interest of Dr. Levy throughout his career. He has authored over 400 medical articles and book chapters on metabolic disorders, including many on the homocystinemias, and has received a number of national and international awards for his achievements.
Dr. Irini Manoli
Dr Manoli is a physician scientist and Clinician Associate Investigator in the Organic Acid Research Section of the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), in Bethesda, MD, USA. Her primary interest is in combining work on animal models and clinical studies with the aim to develop new therapies for methylmalonic acidemias (MMA) and defects of intracellular cobalamin metabolism. She has worked with several mouse models of defects in the cobalamin pathway, studying the pathophysiology underlying disease manifestations, discovering new disease biomarkers and testing small molecule therapies. Along with the work in the lab, she follows over 200 patients enrolled in the NIH clinical protocol on MMA and cobalamin disorders and works on translating preclinical therapies from animal models of MMA into the clinic. Her work was critical in the reappraisal of dietary practices for MMA and cobalamin C deficiency in the USA and the development of improved guidelines for these disorders.
Dr Manoli received her M.D. from the University of Athens, Greece and subsequently pursued residency training in pediatrics and neonatology in the UK, followed by postgraduate training including a M.Sc. in pediatric endocrinology and a Ph.D. in basic medical sciences, both at the University of Athens, Greece. She moved to the USA in 2002 to work as a postdoctoral fellow on mitochondrial genomics at the National Center for Complementary and Alternative Medicine, NIH and subsequently trained in genetics and clinical biochemical genetics, at the National Human Genome Research Institute, NIH, Bethesda, MD and was board certified in 2009.
Dr. Ida Schwartz
Ida Vanessa D. Schwartz graduated in 1994, entered residency in clinical genetics in 1995, started her Master’s degree program in 1998, her PhD in 2000 (this last post graduate course ended in 2004), and started her Postdocs in 2015 and in 2016 respectively. Both her Master’s and her PhD were related to inborn errors of metabolism, and the study of ethical/economic aspects related to the treatment of rare disorders is one of her main research lines. She is an associate professor of the genetics department at Universidade Federal do Rio Grande do Sul (UFRGS), as well as the coordinator of both the local Gaucher Reference Center and the Inborn Metabolic Clinics in the Medical Genetics Service at Hospital de Clínicas de Porto Alegre, Brazil, which is an international reference center for the diagnosis and treatment of lysosomal storage disorders. Among the awards and recognitions she has received, some stand out, such as, the L’OREAL/Brazilian Academy of Sciences for Women in Science (2007) and her affiliation to the Brazilian Academy of Sciences (2008). She has been a member of the Ethics Committee of UFRGS since 2011.
Dr. Raffael Massuda
Raffael Massuda is M.D, PhD and professor of Clinical Psychiatry at Universidade Federal do Parana (UFPR) – Brazil. He has research experience in psychosis, bipolar disorder and neuroimage. He is the leader of PROAP (Psychosis Assistance and Research Program) at Universidade Federal do Paraná.
Prof. Jan Kraus
Dr. Jan P. Kraus completed his masters at the Charles University in Prague and his Ph.D. at the Basel University in Switzerland and is currently a Professor of Pediatrics at the University of Colorado School of Medicine. Since his postdoctoral years at Yale University he has been involved in the study of several inherited metabolic diseases including homocystinuria (HCU) and propionicacidemia (PA). His work included biochemical and enzymological studies of the enzymes involved, CBS and PCC respectively, cloning of the corresponding cDNAs and genes, chromosomal mapping studies, X-ray crystallography, and mutation determinations in patients with HCU and PA.
His laboratory is currently expressing human CBS and PCC in bacteria, and purifying the enzymes to homogeneity. The lab is using several different mouse models to develop enzyme replacement therapies (ERTs) for HCU and PA, the HCU ERT is destined to enter clinical trials in 2018. Dr. Kraus is also maintaining databases of HCU and PA patient alleles.
Dr. Kaustuv Bhattacharya
Dr Kaustuv Bhattacharya is a paediatrician trained in the United Kingdom. His metabolic training was in London at Great Ormond Street Hospital for Children. Having completed a fellowship in metabolic medicine and newborn screening in Sydney, he completed clinical research in glycogen storage diseases with the late Dr. Philip Lee and obtained a research MD in clinical nutrition for this work from the University of London. His work also led to a new carbohydrate therapy for glycogen storage disease being developed and marketed. The Charles Dent Metabolic Unit, at The National Hospital for Neurology and Neurosurgery London is a large adult clinical metabolic service and Dr Bhattacharya was involved in the management of the 1500 adults in this clinic. He moved to Sydney, Australia in June 2008, where he is now practicing as a specialist paediatric metabolic physician. He is continuing clinical research projects in several inborn errors of metabolism, allied to the NSW newborn screening programme and is the principal investigator for 2 clinical trials. He has published over 20 papers in peer-review journals and continues to collaborate widely with various centres across the world. In Australasia he is known for his inclusive approach to engagement with peers. He is a committee member of the International Congress of Inborn Errors of metabolism scientific programme committee for Rio de Janeiro in 2017 and successfully led the bid for the same meeting to be hosted in Sydney in 2021, for which he will be chair of the local organising committee.
Claudio Magalhaes Dacier Lobato
Claudio Magalhaes Dacier Lobato is a Brazilian Nutrition & Dietetics Student at UFRGS (Universidade Federal do Rio Grande do Sul). He began as an intern at the Inborn Errors of Metabolism Information Service in 2015 and has remained at the Medical Genetics Service of the Hospital de Clinicas de Porto Alegre. He is involved with different projects on IEM, including Homocystinuria. He plans to work with IEM and help to improve the quality of life of people through healthy habits including diet and exercise. Claudio participated in the 1st HCU Patient and Expert Meeting in 2016, when he saw first-hand how important it is to listen to the patient’s perspectives, needs and challenges.
Dr. Jennifer Sloan
Dr. Sloan is a certified genetic counselor and researcher in the Organic Acid Research Section of the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), in Bethesda, MD, USA. She is the protocol coordinator for a natural history study for methylmalonic acidemia and cobalamin disorders (NCT00078078 PI Dr. Charles Venditti) at the NIH Clinical Center since its inception in 2004. She has been involved in the case management and provided genetic counseling for >200 families with MMA and cobalamin disorders. In the laboratory she works on developing animal models for defects of intracellular cobalamin metabolism with the goal of bringing new insights into the pathophysiology and investigating new therapies. She has also contributed to gene discovery and clinical research efforts. Dr. Sloan received her Ph.D. in Neurobiology from the University of North Carolina at Chapel Hill, M.S. in Genetic Counseling from Northwestern University and was board certified in Genetic Counseling in 2005.
Bruna Bento dos santos is a dietitian. She has a Master’s Degree in Genetics and Molecular Biology at Universidade Federal do Rio Grande do Sul (UFRGS), related to inborn errors of metabolism. She currently works as study Coordinator of the E-HOD project at Hospital de Clínicas de Porto Alegre, Brazil.
Luana Brito is a journalist that lives in the city of Salvador – BA and is mother of Xandinho, a 2 year old boy with Methylmalonic Acidemia with Homocystinuria – CblC. She is part of a group of Brazilian mothers who exchange information and experiences to better manage their children.
Simone Arede, Found of the Brazilian Association of Homocystinuria is determined to improve the quality of life of Brazilian patients.
The Patient-Expert Meeting was held on Monday 4th September 2017. Registration for the meeting has closed.
Windsor Convention & Expo Center
R. Martinho de Mesquita, 129 – Bloco 2 – Barra da Tijuca, Rio de Janeiro – RJ, 22620-220
For Google Maps, click here.
How to Arrive to Rio de Janeiro
Galeão – Tom Jobim International Airport (GIG)
Galeão International Airport is the main airport serving Rio. The airport is located 20km from the city center of Rio. There are several bus, taxi and transfer companies who provide airport shuttle services.
Santos Dumont Airport (SDU)
If you are travelling from or to another area within Brazil, Santos Airport is the domestic airport serving internal flights. The airport is located 2km from the city center of Rio. Bus, taxi and transfer companies provide airport shuffle services.
Rio is one of Brazil’s most popular tourist destinations. The coastal city offers a vibrant culture and rich history. From football and beaches, to hiking and one of the Seven Wonders of the Modern World, Rio has something for everyone.
Some suggested places to visit in Rio:
- Sugarloaf Mountain – Hike up the mountain to see breathtaking views of surrounding beaches.
- Corcovado “Christ the Redeemer” – Visit one of the Seven Wonders of the Modern World.
- Jardim Botanico – Visit the magnificent Botanical Garden and spend hours walking amongst exotic flowers and plants.
- Maracana Stadium – The world’s largest football stadium and the host to the opening and closing of the 2016 Olympic Games.
- Copacabana Beach – Take a visit to this lively neighbourhood and beach.
- Ipanema Beach – Considered one of the most expensive neighbourhoods to live in Rio.
|Language:||Basic English is widely spoken. The local language in Brazil is Portuguese. A large portion of the population understand Spanish well.|
|Time Zone:||Rio follows the Brasilia time (UTC/GMT -3hours)
13 hours behind Melbourne, Sydney, Brisbane and Hobart (AEST)
12.5 hours behind Adelaide and Darwin (ACST)
11 hours behind Perth (AWST)
|Weather:||September is at the end of the Brazilian winter and the weather is beginning to get warmer. The average maximum temperature in September in Rio is 25 C and the average minimum is 19 C.|
|Dress code:||The dress code for the meeting is casual or business casual as Rio is a very informal city.|
|Electricity:||You will require a travel adapter for your electrical goods.|
|Telecommunications:||The Country Code for Brazil is 55 and the area code for Rio is 21.|
|Currency:||The Brazilian monetary unit is the Brazilian Real (BRL).|
|Credit Cards:||Visa, MasterCard, Diners and American Express are accepted in most hotels, restaurants and shops.|
|Visas:||Australian passport holders require a Visa to enter Brazil. Visa applications can take up to 15 business days to process so be sure to submit your application well before your departure date.|
|Taxis:||Yellow Taxis roam the streets of Rio and are metered. Most hotels will also organise a special taxi service for airport and hotel transfers. Please note: not all taxis will take credit cards.|
|Tipping:||Tips are optional but the usual recommendation is 10% of the bill in restaurants.|
|Emergency Numbers:||Ambulance – 192
Fire Department – 193
Civil Defense – 199
Civil Police – 197
Federal Police – 194
Military Police – 190