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


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

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


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


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


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


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


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


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.