Patient-Expert Meeting 2019

Save the Date:
Patient-Expert Meeting 2019

On behalf of the organising committee, I would like to invite you to Rome, Italy, on Thursday 28th February – Friday 1st March 2019 for the 3rd International Homocystinurias Patient-Expert Meeting. The meeting will bring together leaders in the field of homocystinuria research, clinical care, nutrition and advocacy for a two-day conference. The meeting will be held in conjunction with Rare Disease Day 2019 on 28th February.

Meeting Details:

Date: Thursday 28th February – Friday 1st March 2019
Conference Venue and Hotel: NH Collection Roma Centro (for venue and hotel details, click here).

Registration is now open for the Patient-Expert Meeting 2019. To submit your registration, click here.

I look forward to seeing you in Rome in 2019.

Kind regards,
Tara Morrison, HCU Network Australia Director and Chair

Register*

*Please note that places for the Patient-Expert Meeting are limited.


Programme*

*HCU Network Australia reserves the right to alter the programme without prior notice. Please note speakers and the programme are subject to change.  In the event of a speaker cancellation, all efforts will be made to find a suitable replacement.

Day 1: Thursday 28th February

8.00 Registration open

SESSION 1: State of the art lectures

Chair: Ida SCHWARTZ
Opening address: Dr. Carlo Dionisi Vici and Tara Morrison
Metabolism
8.30 – 8.50 Sulfur Amino Acids Viktor KOZICH
8.50 – 9.10 Folate and B12 Henk BLOM
Presentations
9.10 – 9.30 CBS deficiency: Overview Sufin YAP
9.30 – 9.40 CBS deficiency: A parents’ perspective Tara MORRISON
9.40 – 10.00 CblC and MTHFR: Overview Carlo DIONISI-VICI
10.00 – 10.10 CblC: an adults’ perspective Francesca RESTUCCIA

COFFEE BREAK


SESSION 2: Novel Developments in Remethylation Defects

Chair: Henk BLOM
10.30 – 10.50 Epi-CblC class Jean-Louise GUEANT
10.50 – 11.10 Structural basis of severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency Matthias BAUMGARTNER

SESSION 3: Newborn screening

Chair: Alberto BURLINA
11.10 – 11.30 Technical aspects of NBS in Homocystinurias Giancarlo LA MARCA
11.30 – 11.50 Clinical management of a positive NBS for Homocystinurias Alberto BURLINA
11.50 – 12.10 The outcomes in classical homocystinuria patients detected by newborn screening Tawfeg BEN-OMRAN
12.10 – 12.40 EHOD Recommendations on newborn screening for homocystinurias versus current practices Martina HUEMER
12.40 – 13.00 Q & A session 2 & 3: novel developments in remethylation defects and newborn screening Session Speakers
13.00 – 13.03 Homocystinuria (HCU)in Saudi Arabia: Challenges and successes Aida AL-AQEEL

LUNCH


SESSION 4: Interactive Panel

Chair: Kimberly CHAPMAN
14.00 – 14.45 CBS deficiency Viktor KOZICH, Tawfeg BEN-OMRAN, Sufin YAP
14.45 – 15.30 Remethylation disorders Martina HUEMER, Carlo DIONISI-VICI, Matthias BAUMGARTNER, Irini MANOLI

COFFEE BREAK


SESSION 5: New Developments

Chair: Viktor KOZICH
15.50 – 16.10 Microbiome in CBS deficiency Ida SCHWARTZ
16.10 – 16.30 Arg to Cys mutation in CBS deficiency Henk BLOM
16.30 – 16.45 Closing comments: Day 1 Henk BLOM & Ida SCHWARTZ

NETWORKING CANAPES & DRINKS

Day 2: Friday 1st March

8.00 Registration open

SESSION 6: Long term outcomes

Chair: Carlo DIONISI-VICI
8.30 – 9.00 E-HOD Registry results: Remethylation disorders Martina HUEMER
E-HOD Registry results: CBS deficiency Viktor KOZICH
9.00 – 9.20 The Irish Experience Greg PASTORES
9.20 – 9.40 Observational study of the natural history of patients with classical homocystinuria on current therapy Marcia SELLOS-MOURA

SESSION 7: Recent advances in novel treatments

Chair: TBA
9.40 – 10.00 Enzyme replacement therapy for classical homocystinuria Tomas MAJTAN
10.00 – 10.20 Impact of EPI743 on visual function in CblC defect Diego MARTINELLI
10.20 – 10.40 Progress in CblC treatment Irini MANOLI
10.40 – 11.00 Long term outcomes and novel treatments: Q & A Session Speakers

COFFEE BREAK


SESSION 8: Living with homocystinuria

Chair: Ida SCHWARTZ
11.20 – 12.00 Dietary practices in pyridoxine non-responsive homocystinuria and the impact of E-HOD guidelines Marjorie DIXON & Alexandra JUNG
12.00 – 12.15 RMD calculator & platform- tools supporting HCU diet calculation and communication between HCP & patients Iwona BARTLOMIEJCZYK
12.15 – 12.35 Experiences of raising a child with HCU: Challenges and Solutions TBA
12.35 – 12.45 Growing up with classical homocystinuria: a child’s perspective TBA
12.45 – 13.00 Living with homocystinuria: Q & A Session Speakers

LUNCH


SESSION 9: Patient Organisations

Chair: Tara MORRISON
14.00 – 14.20 Global Research Map and Grants Process for HCU Margie MCGLYNN
14.20 – 14.40 Homocystinuria Patient and Caregiver Survey: Experiences of Diagnosis and Patient Satisfaction Tara MORRISON
14.40 –15.00 CblC onlus, from the beginning until now Rossella BRINDISI
15.00 – 15.20 TBA TBA
15.20 – 15.30 Closing comments: Day 2 Henk BLOM & Ida SCHWARTZ
Acknowledgements Carlo DIONISI-VICI & Tara MORRISON

CLOSE

Sponsors

Silver Sponsors

Orphan Europe

Orphan Europe, part of the Recordati Group, is a pharmaceutical company aiming at providing treatment for patients with unmet medical needs suffering from rare diseases. Since 1990, Orphan Europe is established as one of the most active players in the field of rare diseases.

Orphan Europe is committed to the improvement of knowledge about rare diseases among healthcare professionals. The best example is the support of Recordati Rare Diseases Foundation that provides unique, independent and high-level education on rare diseases.

Orphan Europe shares the conviction that every single patient has the right to the best possible treatment. For more information, please visit www.orphan-europe.com

Orphan Technologies

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.

About OT-58

OT-58, Orphan Technologies’ lead drug candidate, is a modified recombinant enzyme replacement therapy in development as an enzyme replacement therapy for patients suffering from the rare disease classical homocystinuria. Classical homocystinuria is a genetic metabolic disease caused by a deficiency in the CBS enzyme leading to elevated levels of the amino acid homocysteine. OT-58 has consistently demonstrated significant reductions in homocysteine levels across multiple models of homocystinuria and has the potential to improve metabolic control, reduce or remove dietary restrictions, and positively impact clinical outcomes.  OT-58 is anticipated to enter clinical evaluation in 2018 and has been granted Orphan Status by the US Food and Drug Administration and EMA. In addition, based on its mechanism of action, OT-58 has therapeutic potential in other diseases.

Nutricia Metabolics

Bio for Nutricia Metabolics coming soon.

Bronze Sponsors

PIAM

100 years by your side

Founded in Genoa in 1915 by Edoardo Maragliano, the man who discovered the first tuberculosis vaccine, PIAM is an Italian pharmaceutical company that has developed its core business in specialist and ethically significant therapeutic areas with prescription drugs.

Over time it has gained particular expertise in hereditary metabolic diseases. In the 70s, PIAM pioneered a specialist nutritional line to support its pharmaceutical products. It is able to offer a complete response for patients with disorders requiring particular nutritional therapy, throughout every phase of their lives.

Here at Piam, our priorities are the different needs faced by people with unusual or rare disorders.

We want to continue being the preferred partner for everyone who suffers from these diseases.

We offer effective solutions and promote a health-centric culture focusing on individuals and their requirements.

Our approach to care derives from more than 100 years of experience alongside doctors and the scientific community.

Thanks to our exclusive history and expertise, we are able to develop our offer around tangible needs faced by doctors, patients and caregivers, providing them with the necessary treatments, whether pharmacological or nutritional, as well as services to help with the effective management of their specific needs.

Our expertise is the result of more than a century of involvement in the pharmaceutical sector and thirty years of research into nutritional therapy for rare diseases.

By combining nutritional and pharmacological therapies, we are able to offer physicians who consistently chose us a complete platform of integrated therapeutic solutions and services for customised care.

Through a solid network constructed over time with high-profile international scientific partners, as well as targeted clinical research and development, we are able to seize the best and most innovative therapeutic opportunities in terms of efficacy and safety available on the world market.

We adopt an approach that enables us to provide the most appropriate pharmacological therapy solutions for unmet needs as quickly as possible, via a flexible, yet ethically and scientifically stringent business model.

We have had a single mission for more than a century, which looks set to remain the same for the next 100 years: commitment to providing appropriate and cutting-edge responses to growing health needs. For more information, please visit www.piamfarmaceutici.com/en/.

BioElectron

BioElectron is a platform biotechnology company that is using its expertise in redox chemistry to develop first-in-class therapeutics for CNS and non-CNS diseases characterized by redox defects. BioElectron’s lead clinical compound—EPI-743—is in late clinical stage development for mitochondrial disease and related orphan disorders with shared biochemistry, including cobalamin C defect. In addition, BioElectron has a rich pipeline of platform-derived compounds in various stages of development from preclinical to phase 2. For more information, please visit www.bioelectron.com

Vitaflo

Vitaflo LogoVitaflo are at the forefront of developing innovative specialised clinical nutrition products for Metabolic Disorders such as Homocystinuria and other specific conditions. Our aim is to create products that combine the best of cutting-edge research with the lifestyle demands of modern living, ensuring the most acceptable products are available for the patient. By constantly evolving to meet patient needs, Vitaflo will continue to develop products which offer patients choice and help support them in complying with restrictive therapeutic diets. For more information, please visit www.vitafloweb.com.

MetaX

Bio for MetaX is coming soon. For more information visit www.metax.org.

 

Society Sponsors

Society of the Study of Inborn Errors of Metabolism

The aim of the Society is to foster the study of inherited metabolic disorders and related topics. The Society, founded in 1963, exists to promote the exchange of ideas between professional workers in different disciplines who are interested in inherited metabolic disease. Pursuing this aim by arranging scientific meetings, publications and in other ways considered appropriate by the Council. The Council is also supported by advisory council members who provide advice and meet with the Council at the annual symposium.

The Society, a registered charity, accepts donations from sponsors sympathetic to its aims. The Council, within its financial resources, is willing to spread interest and study in inborn errors around the world by selectively supporting membership and attendance at conferences from areas of the world where financial resources are more limited. Not funding research, but offering on request, advice to other organisations who do. The Society is also a limited company and the liability of members in the event that the Society is wound up is limited to £1 per member. For more information, please visit www.ssiem.org.

Supporters

Cambrooke

Cambrooke Therapeutics (expansion of Cambrooke Foods) was founded in 2000 by Lynn and David Paolella, the parents of two children diagnosed with a rare disease called phenylketonuria (PKU). PKU is 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 with serious medical disorders.

Today, Cambrooke produces medical formulas and 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.

Leaders in Therapeutic Medical Nutrition

  • Cambrooke was the first medical foods company to launch a natural intact protein for the dietary management of phenylketonuria called Glytactin™ (modified glycomacropeptide) and Tylactin™ (modified glycomacropeptide) for the dietary management of Tyrosinemia.
  • 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.

For more information, please visit www.cambrooke.com

Speakers

Dr. Carlo Dionisi-Vici

Italy

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.

Tara Morrison

Australia

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.

Prof. Henk Blom

Netherlands

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. Viktor Kožich

Czech Republic

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.

Dr. Ida Schwartz

Brazil

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. Tawfeg Ben-Omran

Qatar

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 the Chief of Clinical and Metabolic Genetics Division in Qatar. 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 90 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. Irini Manoli

United States

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. She received her M.D. from the University of Athens, Greece and subsequently pursued residency training in pediatrics and neonatology in the UK. She pursued postgraduate training including a M.Sc. in pediatric endocrinology and a Ph.D. in basic medical sciences, at the University of Athens, Greece. She then worked on mitochondrial genomics as a postdoctoral fellow at the National Center for Complementary and Alternative Medicine, NIH and subsequently trained in genetics and clinical biochemical genetics, at the Medical Genetics Branch, NHGRI, NIH, Bethesda, MD and was board certified in 2009.

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. 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. 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 takes care of the 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.

Rossella Brindisi

Italy

Rossella Brindisi is the President of the CBLC Onlus and also is the mother of two sons, the second born affected by cobalamin (cbl) C deficiency diagnosed when he was 18 months old.

In March 2017, along with 4 other families in similar situations, the CBLC Onlus association was created, with the purposeful intention to support scientific research and to improve the quality of life of patients and their families. In a short time the association has reached a significant number of Italian families, but also some in Spain and one in California.

Rossella graduated in Economics and received a Master Degree in Tax; she worked in finance & administration and subsequently in the communication field until the birth of the second son; such educational and professional background has been usefully deployed for the organization and management of the association.

Dr. Tomas Majtan

United States

Tomas Majtan received his PharmD in 2003 from the Faculty of Pharmacy, Comenius University in Bratislava studying novel antimicrobial compounds and disinfectants using Salmonella pathogens. He then pursued postgraduate training in microbiology at Slovak Medical University and in 2006 he received a PhD in molecular biology working at the Institute of Molecular Biology of the Slovak Academy of Sciences. During this period, he studied epidemiology and genetics of Salmonella virulence factors and antibiotic resistance markers and deciphered gene expression of bacteriophage during infection of an important industrial strain producing amino acid lysine. In 2007, he started postdoctoral training on enzymology and biochemistry of cystathionine beta-synthase (CBS) in Professor Jan Kraus group at the University of Colorado School of Medicine, Aurora, Colorado. In 2013, he was promoted to Assistant Research Professor at the Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado School of Medicine and continues working on understanding molecular mechanisms behind inborn errors of metabolism and developing new treatments with focus on homocystinuria.

His contributions to the field include uncovering the mechanism of how missense pathogenic mutations impair CBS function, understanding how CBS cofactors work and affect folding and stability of the WT and mutant enzyme, solving several crystal structures of full-length human CBS to gain structural insight into homocystinuria or clarifying the role of CBS as hydrogen sulfide producing enzyme in health and disease. He utilized his intimate knowledge about CBS and has been working with Professor Jan Kraus and Orphan Technologies on enzyme replacement therapy for homocystinuria since 2010.

Dr. Majtan has been a mentor and supervisor of several graduate and postgraduate students or research associates. He is an author of over 40 peer-reviewed papers published in international journals as well as several patents, book chapters and monographs. He regularly presents his research on various conferences and meetings. In addition, he serves as a reviewer for multiple scientific journals and several funding agencies.

Prof. Matthias Baumgartner

Switzerland

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, Medical Director of the Swiss Newborn Screening Program and since 2017 Director of the Children’s Research Center at the Kinderspital Zürich. Since 2012 he leads the clinical research priority program “Rare Disease Initiative Zurich – radiz” at the University of Zurich. He 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.

Margaret McGlynn

United States

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. Martina Huemer

Austria

Pediatrician (Senior consultant) and psychologist. Specialist for inborn errors of metabolism with continuous engagement in clinical and research activities in the field since 1996.

Medical career: Pediatric University Hospital Vienna (Prof. S. Stöckler) 1995-2001, LKH Feldkirch (2001-2006), LKH Bregenz since 2007, additionally member of staff at the Pediatric University Hospitals in Zurich and Basel since 2009.  Habilitation treatise on “Homocysteine, cobalamin and folate metabolism in children and adolescents” (University of Vienna 2009).

Several projects and peer reviewed publications on homocysteine metabolism and methylation disorders.

Clinical work (care for in- and outpatients with inborn errors of metabolism) at the Pediatric University of Basel, and at the LKH Bregenz.

Member of the Austrian and Swiss Groups of inborn errors of metabolism, EHOD, and of the SSIEM. Active participation in the international guideline groups for urea cycle disorders, Pompe’s disease, Gaucher’s disease, remthylation disorders and methylmalonic aciduria/propionic aciduria.

Francesca Restuccia

Italy

I was diagnosed with Homocystinuria with cobalamin CblC deficiency when I was 22, after 10 months of recoveries and exams without a clear medical diagnosis. My life totally changed, in fact now I use a wheelchair but I can say I’m a very lucky girl. I started again to follow my goals but with a new perspective and more awareness. I wanted to become a healthcare professional and I graduated in social work studies; now I work with people with Alzheimer and Dementia in a rehabilitation project and I have also other projects to achieve. My hope for the future is a more effective therapy for Homocystinuria, especially for those children that have more severe symptoms and consequences then me.

Dr. Kimberly Chapman

United States

Dr. Chapman is a physician and scientist at the Children’s National Rare Disease Institute in Washington, DC, USA. She graduated with an MD and a PhD from the University of Nebraska and then completed her internal medicine and pediatric residencies at the University of Pittsburgh Health Sciences Center. She went on to do medical genetics training at the Children’s Hospital of Philadelphia and joined the staff at Children’s National Health System (CNHS) in 2010. Her clinic interests focus on the propionate pathway disorders and homocystinurias. Dr. Chapman’s laboratory studies the interaction of several metabolic pathways and their impact on the Krebs cycle.

General Information

Conference Venue and Hotel Information

NH Collection Roma Centro

Via dei Gracchi, 324 00192 Rome – Italy. Click here for the hotel website.

Hotel Room Block

HCU Network Australia has secured a room block at the NH Collection Roma Centro.  The hotel accomodations are processed through the hotel directly using the booking link for participants here.  Please click here to be taken to the Roma Centro booking link to book your hotel room and to read the room cancellation policy.  The room block will close on 7 January 2019.

How to Arrive in Rome

Leonardo da Vinci (Fiumicino) Airport (FCO)

Leonardo da Vinci Airport is the main airport serving Rome. The airport is located 29km from the city centre of Rome. There are several bus, taxi and transfer companies who provide airport shuttle services.

Ciampino Airport (CIA)

If you are travelling from or to another area within Italy, Ciampino Airport is the airport serving domestic and some international flights. The airport is located 15km from the city center of Rome. Bus, taxi and transfer companies provide airport shuttle services.

Stazione Termini

Stazione Termini is the main train station in Rome. Airport buses and trains, as well as international trains will arrive at Stazione Termini. Here you can also get a taxi and bus to take you on to your destination.

About Rome

As Italy’s capital, Rome is one of the countries most popular tourist destinations.

Some suggested places to visit in Rome:

  • Colosseum
  • St. Peter’s Basilica
  • Pantheon
  • Sistine Chapel
  • Trevi Fountain
  • Vatican City

Practical Information

Language: Italian is the official and most widely spoken language in Rome. As Rome is a large tourist city, many people also speak English.
Time Zone: Rio follows the Central European Time (CET) (UTC/GMT + 1 hours)
11 hours behind Melbourne, Sydney and Hobart (AEDT)
10.5 hours behind Adelaide (ACDT)
10 hours behind Brisbane (AEST)
9.5 hours behind Darwin (ACST)
7 hours behind Perth (AWST)
Weather: With the end of winter for Rome in February and the beginning of Spring in March, the average maximum temperature is 15 C and the average minimum is 5 C.
Dress code: The dress code for the meeting is casual or business casual as Rome is a very informal city.
Electricity: You will require a travel adapter for your electrical goods.
Telecommunications: The Country Code for Italy is +39 and the area code for Rome is 06.
Currency: The Italian monetary unit is the Euro (EUR).
Credit Cards: Visa, MasterCard, Diners and American Express are accepted in most hotels, restaurants and shops.
Visas: Australian citizens planning on staying within Italy or other EU member countries for less than 90 days are not required a visa.
Taxis: When taking a taxi in Rome make sure the meter reads Tariffa 1. Sometimes, taxi drivers will put the meter on Tariffa 2 for unsuspecting tourists, which charges the passenger at a much higher rate. Tariffa 2 must only be applied when exiting Rome’s highway, Grande Raccordo Annulare.
Tipping: Tips are optional and not expected in Italy. However, tipping may be appropriate where service is exceptional.
Emergency Numbers: Police (Carabineri) – 112
General Emergency – 113
Fire Brigade – 115
Car Breakdown Assistance – 116
Ambulance / Medical Emergencies – 118

Organisers

Dr. Carlo Dionisi-Vici

Italy

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.

Tara Morrison

Australia

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.

Prof. Henk Blom

Netherlands

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. Viktor Kožich

Czech Republic

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.

Dr. Ida Schwartz

Brazil

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.

Abstracts – Coming Soon