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4th International Homocystinurias Patient-Expert Meeting

Meeting OverviewRegistrationProgramSpeakersOrganisersSponsors

 

iHOPE Meeting 2021

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The 4th International Homocystinurias Patient Expert (iHOPE) Meeting will bring together leaders in the field of homocystinuria research, clinical care, nutrition and advocacy. iHOPE 2021 is a collaborative event organised by HCU Network Australia and the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD).

iHOPE 2021 will include renowned researchers, clinicians in genetic and metabolic disorders, dieticians and patient/caregivers. The iHOPE Meeting continues to be a forum where leading clinicians and researchers worldwide can share their knowledge with industry, families, and community stakeholders.

The iHOPE 2021 Organising Committee invites you to join us for the first ever virtual iHOPE Meeting allowing for stakeholders across the globe to attend. The virtual event will allow you to access presentations, participate in Q&A sessions and access sponsors and patient organisations exhibits to learn about resources available.

We look forward to welcoming all stakeholders in the homocystinuria community to the iHOPE Meeting 2021.

 

To register please click here.

 

Kind regards,

Tara Morrison

HCU Network Australia Director & Chair

 

Registration is now open

We are pleased to invite you to join us for the 4th International Homocystinurias Patient-Expert Meeting. The Meeting will be held online and presentations will be delivered through a virtual meeting platform.All persons intending to attend the iHOPE Meeting must register. Registration is free and available below.

Meeting Program

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


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View the final agenda on the event website

View it here: https://hopin.com/events/4th-international-homocystinurias-patient-expert-ihope-meeting/registration

Speakers

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Prof. Martina Huemer, MD, Psychologist

Switzerland & 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.

Dr Harvey Levy

Dr. Harvey Levy

United States

I am a Senior Physician in Medicine/Genetics at Boston Children’s Hospital in the Division of Genetics and Genomics and Professor of Pediatrics at Harvard Medical School. I have published over 400 articles on metabolic disorders and on the newborn screening of these disorders. I have been the fortunate recipient of a number of awards for my work.

The first metabolic disorder I encountered during my post-doctoral fellowship was the classic homocystinuria (HCU). This was 1967 and the first case in the United States of HCU identified by newborn screening. This infant had an older sister with the complications of HCU who was born before newborn screening for HCU had been added to the Massachusetts program. Shortly thereafter, I encountered an infant with markedly increased homocysteine but whose other biochemical characteristics were very different from HCU. This led to a collaboration with Dr. Harvey Mudd of the NIH and the discovery of the B12 metabolic disorder now known as cobalaminC (cblC) and the realization that elevated homocysteine (i.e. homocystinuria) was not one disorder but the key feature of many disorders. Thus, in my over 50 years of study in the metabolic and transport disorders, including the diagnosis, treatment, and investigation of PKU, galactosemia, Hartnup disorder, and others as well as newborn screening, the homocystinurias, including HCU, have been at the forefront.

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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. 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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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 underlying 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 therapy for homocystinuria since 2010. His enzyme therapy for homocystinuria named pegtibatinase (developed by Travere Therapeutics) is currently advancing in a Phase 1/2 clinical trial evaluation.

Dr. Majtan has been a mentor and supervisor of several graduate and postgraduate students or research associates. He is an author of over 50 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 in editorial board of MDPI’s Biology journal as well as a reviewer for multiple scientific journals and several funding agencies.

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Dr. Irini Manoli, M.D.,P.H.D.

United States

Dr Manoli is a physician scientist and Clinician Associate Investigator of the Medical Genomics and Metabolic Genetics Branch in the National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD, USA. She earned her medical degree, a Masters in Pediatric Endocrinology and PhD in Medical Sciences from the University of Athens in Greece and completed her pediatrics residency training at John Radcliffe Hospital in Oxford, England and University Children’s Hospital in Athens. She subsequently pursued postdoctoral and fellowship training in clinical and biochemical genetics through the combined NHGRI and Children’s National Medical Center Training program and was ABMGG board certified in 2009. She continued as a Staff Clinician in the Medical Genomics and Metabolic Genetics Branch and became a Clinician Associate Investigator in 2016.

She combines 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 clinical research led to the re-evaluation of long-standing dietary guidelines for MMA and cobalamin C deficiency. Dr Manoli is the recipient of a number of grants and awards, including an NIH Bench to Bedside grant to study isotope methods for metabolic phenotyping of organic acidemias, and served as a co-PI for a U01 grant to study the genetics of Moebius syndrome. She serves as faculty of the Metropolitan Washington D.C. Medical Genetics Fellowship Training Program, is a scientist member of the NIH IRB, and a co-inventor of seven patents related to biomarkers and therapeutics for organic acidemias.

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Brooke Pinsent

Australia

Brooke Pinsent is a clinical dietitian working at The Royal Children’s Hospital Melbourne with five years of experience in paediatrics. She has specialised in the nutrition management of inborn errors of metabolism for the past year. She is a current member of HGSA and ASIEM.

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Vanessa Vogel-Farley

United States

Vanessa is the Research and Data Governance Platform Lead for RARE-X and also serves as the Executive Director of the Dup15q Alliance. Previously, she was at the University of Minnesota Center for Neurobehavioral Development. She also served as the Clinical Research Coordinator for the Division of Developmental Medicine Laboratory of Cognitive Neuroscience, Boston Children’s Hospital, working on collaborations with scientists from MIT and Harvard examining several clinical populations, including autism. She has 15 years of experience in data collection methods, as well as expertise in non-profit strategy, patient advocacy and research operations.

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Mark Bechter, B.M.

United Kingdom

Dr. Mark Bechter joined the pharma industry in 2004 after a clinical career in Anesthesiology and Emergency Medicine. Through a series of roles in Medical Affairs, at both country, regional and global levels, he has extensive experience in both pharmaceuticals and medical devices, with a focus on rare diseases. Prior to Aeglea, Mark served as a Global Therapeutic lead at Baxter and VP of medical affairs at Amicus Therapeutics, where he established medical affairs teams that successfully launched products internationally. He has also served in various medical roles at Novartis, Chiesi Group, Synageva BioPharma (acquired by Alexion) and was CMO of the Precision Medicine Catapult, UK Government funded project. Mark received his medical degree (Bachelor of Medicine) from the University of Southampton in the UK and continues to be registered with the General Medical Council of the UK as a Pharmaceutical Physician.

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Dr. Warren Kruger

United States

Dr. Warren Kruger received his Ph.D. in Biochemistry and Genetics from the University of California at San Francisco, working in the lab of Dr. Ira Herskowitz studying transcriptional control of the yeast HO gene. He went on to do post-doctoral work at Stanford in human genetics in the lab of Dr. David Cox, where he developed yeast functional assays to study the functional effects of human cystathionine beta-synthase mutations. Since 1995 he has been a researcher at the Fox Chase Cancer Center in Philadelphia, where he is currently a full professor in the Molecular Therapeutics Program. Dr. Kruger’s work focuses on the role of dysregulated methionine metabolism in human disease. He has had continuous NIH funding in this area since 1997 and is a recognized leader in the 1-carbon metabolism field, having been an invited speaker and session chair several times at both the International Homocysteine Meeting and the FASEB summer conference on Folate, Methionine, and B12 Metabolism. His lab has made numerous contributions to the study of CBS deficiency including the cloning of gene, creation of functional models in yeast and mice, and key discoveries on the regulations of the enzyme. He enjoys scientific collaboration and the mice created in his lab are used to study homocysteine related disease throughout the world.

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Dr. Michel Tchan (BMedSc, MBBS, PhD, FRACP)

Australia

Dr. Tchan is a clinical and metabolic geneticist looking after adults with genetic disorders and inborn errors of metabolism. He is currently the Head of Department, Genetic Medicine at Westmead Hospital in Sydney, and a senior lecturer at the University of Sydney.

He is currently responsible for the NSW Adult Genetic Metabolic Disorders Clinic. His research interests include clinical aspects of the lysosomal storage disorders, the neurological consequences of phenylketonuria in adults, and clinical trials of novel therapies for genetic disorders.

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Dr. Kaustuv Bhattacharya

Senior Staff Specialist, Sydney Children’s Hospitals Network, Sydney, Australia Conjoint Senior Lecturer, Discipline of Child and Adolescent Health and Genomics, Sydney University

Kaustuv Bhattacharya is a metabolic paediatrician trained in the UK. 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, Australia, 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 type I being developed and marketed.

Dr Bhattacharya is a senior staff specialist at Sydney Children’s Hospitals Network and conjoint senior lecturer at Sydney University. He is continuing clinical research projects in several inborn errors of metabolism, allied to the New South Wales newborn screening programme and is the principal investigator for several clinical trials. He has published 50 papers in peer-reviewed journals ranging from dietary therapy in inborn errors of metabolism to haematopoietic stem cell transplants in lysosomal storage disorders. He will be the convenor of International Congress of Inborn Errors of Metabolism (ICIEM) 2021 in Sydney.

Renee Wells

Renee Wells

For the last 5 years, Renee has been a metabolic specialist at Nutricia supporting the medical nutrition products and services for the inherited metabolic disorders (IMD) community. She a dietitian with over 19 years’ experience working in a variety of roles in both the community and hospital environment in Australia and the United Kingdom in different specialised areas (burns, intensive care, infectious diseases, paediatrics, metabolics and Ketogenic diets). She joined the Nutricia Metabolics team in Australia in 2016 and has been a crucial link between Nutricia and the healthcare professionals working in metabolic medicine that support and manage people with HCU. She loves creating a meal out of fridge ingredients such as roasting up vegetables for a delicious salad.

Amira Ramadan

Amira Ramadan

For the last 10 years, Amira has been a leader in the Medical Nutrition industry for inherited metabolic disorders (IMD), she is a pharmacist with more than 19 years’ of experience in the healthcare sector managing various other therapeutic areas (neurology, faltering growth, oncology, immunology and cardiology). She has a played a pivotal role in progressing the management of IMD’s through implementing the newborn screening program for PKU and other IMD in several (developing) countries worldwide and by providing customized product portfolio, educational tools and services. Amira believes in the power of Nutricia specialised medical nutrition to provide “Best Care” when working together with the community, healthcare professionals and authorities. Amira joined Nutricia Metabolics team in Australia in 2019 to continue her journey in supporting the metabolic community.

Jalé Güner

Jalé Güner

Ms. Jalé Güner is the Executive Director of Clinical Operations and is the pegtibatinase (TVT-058) Development Program Lead at Travere Therapeutics. She has been with Travere since 2019 and is responsible for overseeing the strategy and execution of pegtibatinase through its development life cycle. Jalé has specialized her clinical development and operations career in oncology and rare disease, working at small and large biopharma companies in California. Jalé received her B.S degrees in Biochemistry and Molecular Cell Biology at UCSD and currently resides with her family and dog in San Diego, CA.

Sagar A. Vaidya

Sagar A. Vaidya

Dr. Sagar Vaidya is a physician-scientist and rare disease drug developer who has served as the Vice President of Clinical Development at Travere Therapeutics since 2019. Dr. Vaidya is responsible for overseeing clinical development for the company’s metabolic pipeline. Previously, Dr. Vaidya served in roles in clinical development at Sangamo Therapeutics and at BioMarin Pharmaceuticals, and he remains committed to driving the rapid development of novel treatments for rare diseases with unmet medical need. Dr. Vaidya completed his Infectious Diseases fellowship at Massachusetts General Hospital, his Internal Medicine and Pediatrics residency at the Icahn School of Medicine at Mount Sinai Hospital, and received his M.D. and Ph.D. degrees from the David Geffen School of Medicine at UCLA.

Prof. Matthias Baumgartner

Prof. Matthias Baumgartner

Matthias Baumgartner, MD is professor of metabolic diseases at the University of Zurich, head of the Division of Metabolism, Medical Director of the Swiss Newborn Screening Program and
Director of Research & Education at the University Children’s Hospital Zurich, Switzerland. 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 and an editor of the Journal of Inherited Metabolic Disease. He is a cofounder and steering committee member of the European networks and registries for Intoxication type Metabolic Diseases (E-IMD, www.e-imd.org) and for Homocystinurias and remethylation disorders (E-HOD, www.e-hod.org).

Dr. Mylène Perreault

Dr. Mylène Perreault

Head of Biology, Synlogic

Event Hosts

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Supporting Patient Organisations

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Organising Committee

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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

Switzerland & 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

Viktor Kožich, M.D., Ph.D. is a Professor of Medical Genetics at the Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital in Prague and Charles University-First Faculty of Medicine, Prague, Czech Republic.

Viktor 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 at Charles University. His main interests are genetic, biochemical, clinical, epidemiological and ethical aspects of inherited metabolic disorders. He is specialized in disorders of homocysteine transsulfuration pathway, namely in cystathionine beta-synthase deficiency—a disease in which he became interested in 1991-1992 during his fellowship in the laboratory of the late Prof.Jan P.Kraus (University of Colorado School of Medicine in Denver, USA).

Professor Kožich has been a tutor of graduate and postgraduate students, he is an author of over 140 publications in international peer reviewed journals, several chapters in books, and of articles and chapters in Czech medical literature. He has been a member of councils of several international learned societies (SSIEM, ERNDIM, and ESHG) and he is a member of the Executive Board of E-HOD since 2013. Prof.Kožich is also interested in newborn screening for inherited metabolic disorders and since 2009 he is a Chairman of the Czech national Coordination Center on Neonatal Screening.

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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.

Event Major Sponsors

 


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Aeglea BioTherapeutics

Aeglea BioTherapeutics is a clinical-stage biotechnology company redefining the potential of human enzyme therapeutics to benefit people with rare metabolic diseases with limited treatment options. Aeglea’s lead product candidate, pegzilarginase, is in a pivotal Phase 3 trial for the treatment of Arginase 1 Deficiency and has received both Rare Pediatric Disease and Breakthrough Therapy Designations. The Company began dosing patients in a Phase 1/2 clinical trial of AGLE-177 for the treatment of Homocystinuria in June 2021. AGLE-177 has also been granted Rare Pediatric Disease Designation. Aeglea has an active discovery platform focused on engineering small changes in human enzymes to have a big impact on the lives of patients and their families. For more information, please visit https://aeglea.com.

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Recordati Rare Disease

At Recordati Rare Diseases, we focus on the few – those affected by rare diseases. We believe that every single patient has the right to the best possible treatment. Patients with rare diseases are our top priority. They are at the core of our planning, our thinking and our actions.

Recordati Rare Diseases is a pharmaceutical company that provides treatment for patients with rare diseases. Created in 1990, Recordati Rare Diseases is one of the most active companies in the field of rare diseases.

Our specialty rare disease products are marketed directly by Recordati Rare Diseases in Europe, the Middle East, the U.S.A., Canada, Russia, Japan and Australia, in some Latin American countries, and through selected partners in other parts of the world.

Highly trained specialists and a scientific support team are available to collaborate with doctors, healthcare professionals, patients groups and families, to help improve the quality of life for people with rare diseases.

Thanks to a unique production, packaging and distribution system developed for our products, our dedicated specialists are able to support patients in their home countries.

Recordati Rare Diseases is committed to supporting families affected by rare diseases through the research and development of new therapies and the distribution of specific scientific knowledge throughout the medical community.

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Nutricia Metabolics

Nutricia are your medical nutrition experts. Nutricia, part of the Danone group, specialises in the delivery of advanced medical nutrition for the dietary management of disease and disease-related malnutrition. We supply high quality feeds, systems and support services to healthcare professionals and the general public. Nutricia has been a pioneer of Advanced Medical Nutrition globally, and is rapidly expanding its services for patients across the world.

Nutricia’s Commitment to Inherited Metabolic Disease – Helping people Feed Their Possible. We strive to provide our customers and their families with the best quality products and services available for the best clinical outcome and quality of life for people with Inherited Metabolic Disease (IMD).

Nutricia provides a core portfolio of products for the dietary management of inborn errors of metabolism. These products support the greatest number of patients worldwide across the widest variety of IMDs including errors in: Amino acid metabolism such as Homocystinuria (HCU). Nutricia also provides a wide range of low protein foods to support people with amino acid-based IMDs.

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Travere Therapeutics

At Travere Therapeutics we are in rare for life. We are a biopharmaceutical company that comes together every day to help patients, families and caregivers of all backgrounds as they navigate life with a rare disease. On this path, we know the need for treatment options is urgent – that is why our global team works with the rare disease community to identify, develop and deliver life-changing therapies. In pursuit of this mission, we continuously seek to understand the diverse perspectives of rare patients and to courageously forge new paths to make a difference in their lives and provide hope – today and tomorrow. For more information, visit travere.com.

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Codexis

Codexis is a leading enzyme engineering company dedicated to the development of novel biotherapeutics and high-performance enzymes. Codexis is proud to support the Homocystinuria community, as well as other rare disease communities, through action. Our goals are to build disease awareness, improve quality of life for patients, and discover better treatments.
For more information, visit: www.codexis.com/therapeutics.

Details

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