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.
More details will be shared soon.
We are now calling for Expression of Interest for the Patient-Expert Meeting 2019. To submit your Expression of Interest, click here.
I look forward to seeing you in Rome in 2019.
Tara Morrison, HCU Network Australia Director and Chair
We are currently calling for Expression of Interest for the Patient-Expert Meeting 2019.
Please fill your details in below.
More information coming soon.
The following sessions are planned for the Patient-Expert Meeting 2019.
Session 1: State of the Art Lectures
Session 2: New Developments
Session 3: Newborn Screening
Session 4: Long-term Outcomes
Session 5: Disease Causing Mechanisms
Session 6: Voice of the Patients
Session 7: Dietary Intervention
Session 8: Novel Treatment Developments
Session 7: Interactive Panel Discussion
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 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.
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.
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
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
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 – Coming Soon
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 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.
As Italy’s capital, Rome is one of the countries most popular tourist destinations.
Some suggested places to visit in Rome:
- St. Peter’s Basilica
- Sistine Chapel
- Trevi Fountain
- Vatican City
|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
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.
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
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
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
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.