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4th International Homocystinurias Patient-Expert Meeting

Meeting OverviewRegisterProgrammeSpeakersOrganizersSponsorsGeneral Information

Save The Date:
Patient-Expert Meeting 2021

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On behalf of the organising committee, I would like to invite you to the 4th International Homocystinurias Patient-Expert Meeting on 30th November 2021.

The meeting will bring together leaders in the field of homocystinuria research, clinical care, nutrition and advocacy for a one day conference.

More details will be shared soon.

We are now calling for registrations for the Patient-Expert Meeting 2021. To register now, please click here.

I look forward to you joining us.

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

Register

We hope you are able to join us for the 4th International Homocystinurias Patient-Expert Meeting. Please register below.

Programme

More information coming soon.

Speakers

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Prof. Martina Huemer, MD, Psychologist

Department of Metabolism, University Children’s Hospital Zürich, Switzerland & Department of Paediatrics,
Landeskrankenhaus Bregenz, Austria

Martina Huemer, MD and Psychologist, works as Consultant at the Children’s Hospital in Zürich and heads the specialist outpatient clinic for inborn errors of metabolism at University Children’s Hospital in Basel, Switzerland, as well as in Vorarlberg, Austria.

She received her degree in Psychology in 1987 and her MD in 1994. After receiving her post-doctoral lecturing qualification for Paediatrics in 2009, she was appointed guest professor at the University of Vienna in 2015 and titular professor at the University of Zürich in 2016. Her research focuses on the Homocystinurias and methylation disorders and on psychological aspects of patient care in inborn errors of metabolism. She is author to more than 80 peer reviewed publications including treatment guidelines for a number of inborn errors of metabolism, including cystathionine synthase deficiency and the remethylation defects. Martina Huemer is chair of the European network and registry for homocystinurias and methylation defects (E-HOD) project. Beyond her research activities around the homocystinurias and within E-HOD she leads several projects on health-related quality of life, patient education and patient
reported outcomes in children with metabolic diseases.

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Dr. Ken Maclean

United States

Dr Ken Maclean is a Professor of Pediatrics at the University of Colorado School of Medicine and holds the Ehst-Hummel-Kaufman Family Endowed chair in Inherited Metabolic Disease. Dr Maclean gained his undergraduate degree and PhD at the University of Greenwich in London, UK. This was followed by an EMBO post-doctoral fellowship at the Hungarian Academy of Sciences in Szeged, Hungary and a further post-doctoral fellowship at the Royal London-St Bartholomew’s Hospital trust in the UK.

In 1998, Dr. Maclean came to Colorado to work on the transcriptional and post-translational regulation of cystathionine beta-synthase (CBS) in the laboratory of Dr. Jan Kraus.

Since establishing his own laboratory in 2002, Dr. Maclean’s work has centered on using transgenic and knockout/in mouse models to investigate the pathobiology of CBS deficient homocystinuria (HCU), homocysteine remethylation defects, Down Syndrome, propionic acidemia, and non-ketotic hyperglycinemia. Additional collaborative projects in the Maclean lab have focused on investigating the mechanisms involved in hepatic fibrosis, atherosclerosis, diabetes, nonalcoholic steatohepatitis, and alcoholic steatohepatitis.

The Maclean laboratory uses transcriptomic, metabolomic, proteomic, and behavioral approaches combined with a range of biochemical and molecular strategies to understand the biological mechanisms that result in the clinical sequelae found in these diseases with a view towards developing improved treatments. Dr Maclean recently co-directed an FDA-funded multi-site clinical trial of the use of taurine as a novel treatment for HCU. This treatment resulted in significant improvement in HCU patient endothelial function and constitutes the first advance in treatment for this disease in over 40 years.

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Margaret McGlynn

United States

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, who passed from homocystinuria in the early 1970s. Margie is committed to finding a cure for homocystinuria so that someday no no one 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.

Margie received a BS in Pharmacy, MBA in Marketing and honorary doctorate in sciences 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 non-profit product development partnership focused on HIV vaccine development. Margie also serves on the boards of Vertex Pharmaceuticals, Amicus Therapeutics, and Novavax.

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Dr. Kristen Skvorak

United States

Dr. Kristen Skvorak is an in vivo pharmacologist who strongly believes the patient voice should guide drug development, from ideation through approval. Her research focuses on the discovery and pre-clinical validation of novel therapies of Inborn Errors of Metabolism (IEM), a passion that started in 2003 with her doctoral thesis on Maple Syrup Urine Disease (MSUD) at the University of Pittsburgh School of Medicine. Dr. Skvorak has published on the creation and characterization of mouse models of MSUD, novel cell transplant therapies for IEM, which progressed to clinical development in two countries, and generation of a minipig model of Phenylketonuria (PKU). She was a multiple-year awardee of the National PKU Alliance Research Fellowship for her postdoctoral work at the Children’s Hospital of Pittsburgh, and is currently a Translational Scientist, and the first Patient Ambassador, at Codexis, Inc., an enzyme engineering biotechnology company in the Bay Area of California, USA.

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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.

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Prof. Martina Huemer, MD, Psychologist

Department of Metabolism, University Children’s Hospital Zürich, Switzerland & Department of Paediatrics, Landeskrankenhaus Bregenz, Austria.

Martina Huemer, MD and Psychologist, works as Consultant at the Children’s Hospital in Zürich and heads the specialist outpatient clinic for inborn errors of metabolism at University Children’s Hospital in Basel, Switzerland, as well as in Vorarlberg, Austria.

She received her degree in Psychology in 1987 and her MD in 1994. After receiving her post-doctoral lecturing qualification for Paediatrics in 2009, she was appointed guest professor at the University of Vienna in 2015 and titular professor at the University of Zürich in 2016. Her research focuses on the Homocystinurias and methylation disorders and on psychological aspects of patient care in inborn errors of metabolism. She is an author to more than 80 peer-reviewed publications including treatment guidelines for a number of inborn errors of metabolism, including cystathionine synthase deficiency and the remethylation defects. Martina Huemer is chair of the European network and registry for the homocystinurias and methylation defects (E-HOD) project. Beyond her research activities around the homocystinurias and within E-HOD she leads several projects on health-related quality of life, patient education and patient-reported outcomes in children with metabolic diseases.

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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.

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Dr. Andrew Morris

United Kingdom

Dr. Andrew Morris is a Consultant and Senior Lecturer in Paediatric Metabolic Medicine. He works on the Willink Metabolic Unit, which is part of the Genomic Medicine in the Central Manchester University Hospitals.

Dr. Morris has extensive experience in inborn errors or metabolism in children and some experience with adults. He has considerable experience of managing patients with classical homocystinuria and remethylation disorders.

Dr. Morris is on the Steering Group for E-HOD, the European Network and Registry for Homocysinurias and Methylation Defects; he is Leader of the Classical Homocystinuria Guidelines Group and the Work Group on Evaluation of the Project.

Dr. Morris is currently a scientific advisor for the HCU Network Australia and most recently is the first named author on the recently published Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency from the Journal of Metabolic Disease.

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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.

Sponsors

More information coming soon.

General Information

Conference Venue

TBC

How to Arrive in Sydney

Kingsford Smith Airport is the main airport serving Sydney. the airport is located 8km south of the Sydney city centre. There are several bus, taxi and transfer companies who provide airport shuttle services.

About Sydney

Sydney, the capital of New South Wales, an Australian state, is one of the largest cities in Australia. It is best known for its harbourfront Sydney Opera House, with a distinctive sail-like design. Massive Darling Harbour and the smaller Circular Quay port are hubs of waterside life, with the arched Harbour Bridge and esteemed Royal Botanic Garden nearby. Sydney Tower’s outdoor platform, the Skywalk, offers 360-degree views of the city and suburbs.

Practical Information

Language:

English is the official and most widely spoken language in Sydney.

Time Zone:

Sydney follows Australian Eastern Time (AEST) (UTC/GMT + 11 hours).

Weather:

August is the end of winter in Sydney. The average maximum temperature is 18° C and average minimum temperature is 9° C.

Dress code:

The dress code for the meeting is casual or business casual as Sydney is a very informal city.

Electricity:

You will require a travel adapter for your electrical goods.

Telecommunications:

The country code for Australia is +61 and the area code for Sydney is 02.

Currency:

The Australian monetary unit is Australian Dollar (AUD)

Credit Cards:

Visa, MasterCard, Diners and American Express are accepted in most hotels, restaurants and shops

Tipping:

Tips are optional and not expected in Australia. However, tipping may be appropriate where service is exceptional.

Emergency Numbers:

Emergency (Police, Ambulance, Fire Brigade) – 000

Details

Date:
Nov 30
Time:
8:00 am - 6:00 pm
Event Category: