Rare Diseases

Scientific Committee

Kirsten Kiær Ahring

Kirsten Kiær Ahring

Center for PKU
Copenhagen University Hospital
Copenhagen, Denmark
Amaya Belanger-Quintana

Amaya Belanger-Quintana

National Reference Center for Hereditary Metabolic Diseases (C.S.U.R)
Metabolic Diseases Unit Pediatric Service, Ramón y Cajal University Hospital
University of Alcalá de Henares
Madrid, Spain
Nenad Blau

Nenad Blau

Biochemical Genetics
University Children’s Hospital Zürich
Zürich, Switzerland
Maria Giżewska

Maria Giżewska

Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology
Pomeranian Medical University
Szczecin, Poland
Anita MacDonald

Anita MacDonald

Inherited Metabolic Disorders
Birmingham Children’s Hospital, UK
François Maillot

François Maillot

Department of Internal Medicine
University Hospital of Tours
Tours, France
Júlio César Rocha

Júlio César Rocha

Nova Medical School, Faculty of Medical Sciences, University of Lisbon
Reference Centre of Inherited Metabolic Diseases, University Hospital Lisbon Central
Center for Health Technology and Services Research

· Kirsten Kiær Ahring ·

Kirsten Ahring has worked with PKU since 1997 at the National PKU Clinic in Denmark. The clinic treats all PKU patients living in Denmark, Greenland, and the Faroe Islands, at total of 520, where around 50 of them are late-diagnosed, born before screening was implemented.  She is a metabolic dietitian, RD, and has completed a M.Sc. in Human Nutrition and a Ph.D. in clinical genetics (PKU). She has worked in research-labs in Canada and Saudi Arabia. She is a member of several advisory boards and the Scientific-Advisory-Board under the ESPKU. She is also an active member of the Danish PKU organization, where she serves as a scientific representative.

· Nenad Blau ·

Nenad Blau is a Senior Consultant in Biochemical Genetics at the University Children’s Hospital of Zürich, Switzerland and served in the same function at the Children’s Hospital in Heidelberg, Germany from 2011-2019. He was the Head of the Laboratory for Tetrahydrobiopterin and Neurotransmitter Diseases at the University Children’s Hospital in Zürich, Switzerland, where his research group discovered several inborn errors of metabolism, including GTPCH, PCD and SR deficiencies. He established and curates the phenylalanine hydroxylase (PAH) locus-specific database, BIOPKU database of phenylketonuria (PKU) genotypes, database of tetrahydrobiopterin (BH4) deficiencies and the PNDdb database of mutations causing pediatric neurotransmitter disorders (www.biopku.org). With colleagues from Vancouver (BC, Canada), he developed the IEMbase, an online knowledgebase and diagnostic tool for inborn errors of metabolism (www.iembase.org). His current research focuses on epidemiology, population genetics, genotype-phenotype correlation, and genotypic phenotype prediction in PKU and other inherited metabolic diseases.

Prof. Blau is an honorary member of the Italian Society for Pediatrics. In 2001, he received the Horst­ Bickel-Award, in 2005 the Gowland Hopkins Award and in 2011 the Asbjørn Følling Award for his research in the field of tetrahydrobiopterin and PKU.

Prof. Blau is author of more than 500 research publications and 12 books, including the standard textbooks ‘Physician’s Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases’ and ‘Laboratory Guide to the Methods in Biochemical Genetics’

· Maria Giżewska ·

Maria Giżewska graduated from and works at the Pomeranian Medical University in Szczecin, Poland. She started at the Department of Biochemistry and in 1987 she joined the Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology where she holds a position of Vice-Head. Professor Giżewska has a specialization in general pediatrics and pediatric metabolism and is a consultant on inborn errors of metabolism for the Region of West Pomerania, Poland. Since the mid-nineties, her research has been focused on early diagnosis and treatment of patients with different types of inborn errors of metabolism, including phenylketonuria. She was involved in the development of the first European Guidelines on the Diagnosis and Management of Phenylketonuria which were published in 2017 in The Lancet, Diabetes and Endocrinology and in the Orphanet Journal of Rare Diseases. At the moment, she is coauthoring the second edition of the Guidelines. Professor Giżewska is the author of over 120 publications in both Polish and international journals (Impact Factor 169,34, Hirsch index 16, citations number 1237 – Web of Science) on inborn errors of metabolism, general pediatrics, pediatric endocrinology, neurology and genetics. She was trained in Denmark, Italy, Great Britain, Qatar, USA and Japan.  Phenylketonuria and other inborn errors of metabolism were the subjects of her lectures given in many European countries, USA and Canada, South America, China, Japan, Australia and in the Middle East. On many occasions she was the presenter at the Metabolic University at Colorado Children’s Hospital in Denver where her lectures focused on phenylalanine neurotoxicity and untreated adults with phenylketonuria as well as inborn errors of metabolism with intoxication syndrome. From 2011 to 2021 professor Giżewska with her German partners (Universities in Greifswald and Medical University Charitè in Berlin) carried out two European Union transborder projects (Program Interreg IVA and VA) dedicated to the creation of Polish-German newborn screening programs aimed to early detection of newborns with rare genetic conditions, including inborn errors of metabolism, endocrinological disorders, cystic fibrosis and recently, severe combined immunodeficiencies (SCID). At the moment, she is a promotor of the National Center of Science grant:  Does a life-long low-phenylalanine diet have an impact on renal function in patients with phenylketonuria? Professor Giżewska is a member of SSIEM, ISNS, Polish Pediatric Societies, Polish Society of Pediatric Endocrinology and Polish Society of Inborn Errors of Metabolism. She is also a vice-chair of Polish Society of Phenylketonuria and a vice-chair of ESPKU Scientific Advisory Committee.

· Anita MacDonald ·

Dr Anita MacDonald OBE is Consultant Dietitian in Inherited Metabolic Disorders at Birmingham Children’s Hospital, and an Honorary Professor in Dietetics at Plymouth University, UK. Although she semi-retired 6 years ago, she is even more involved in PKU work, concentrating solely on this group as well as doing some voluntary work for the National Society for PKU (NSPKU). Her involvement in inherited metabolic disorders (IMD) has spanned almost all her working life (>40 years). Dr MacDonald obtained her PhD in phenylketonuria (PKU) in 1999. She has directly cared for over 400 patients with PKU. She has always been involved in PKU research, supervises PhD students, Master students and lectures worldwide on PKU.  She has around 450 publications – many are research publications on PKU. She is a member of the European PKU Guidelines group (which is aiming to standardise PKU care across Europe), is a member of ESPKU Scientific Advisory Committee, and member of the UK NSPKU Medical Advisory Panel. The retirement slippers remain well and truly in their box!

· François Maillot ·

François Maillot is Professor of Internal Medicine at the University of Tours, France. He is Head of the Department of Internal Medicine which is part of Reference center for Inherited Metabolic Disease (IMD) at the University Hospital in Tours, France. Professor Maillot is involved in the care and treatment of adult patients with IMD. He has publications for primary research across a wide array of IMD. Among his research activities, he has studied and published papers about adult and maternal phenylketonuria (PKU). He is the principal investigator of the French cohort study of adults with PKU (ECOPHEN study). Professor Maillot is the vice president of the French National Society for the Study of Inborn Errors of Metabolism (SFEIM) and member of the International Society for the Study of IEM (SSIEM), and has been involved in the European PKU guidelines working group since 2012.

· Júlio César Rocha ·

Júlio César Rocha is a Professor of Nutrition and Metabolism, graduated in Nutritional Sciences (0438N – specialist in Clinical Nutrition), with a post graduate qualification in Clinical Nutrition from the Faculty of Nutrition and Food Sciences – University of Porto (UP) and he has also a PhD in Metabolism, at the Faculty of Medicine, UP.

He has been working in the field of inborn metabolic diseases since 2003. He is Professor of Nutrition and Metabolism at NOVA Medical School teaching in the field of Nutrition and Metabolism to Medicine and Nutrition students. He is also member of the multidisciplinary clinical team at the Reference Centre of Inherited Metabolic Diseases at Centro Hospitalar Universitário Lisboa Central, one of the 5 Portuguese Reference Centres for the follow-up of patients with Inherited Metabolic Diseases. He is also a researcher at CINTESIS (Center for Health Technology and Services Research).

He is council member of the SSIEM (Society for the Study of Inborn Errors of Metabolism), Chair of the Dieticians Group of the SSIEM (SSIEM-DG), Chair of the Nutrition Group of the Portuguese Society of Metabolic Disorders (SPDM-GN) and President of the Portuguese Society of Clinical Nutrition and Metabolism (SPNCM).

He is also member of the working group of the European Phenylketonuria Guidelines (EPG 2.0) under the umbrella of the ESPKU (European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria). He has been also member of the PKU European Parliament Cross Party Alliance, a joined group of Members of the European Parliament (MEP), experts and civil society.

He is author of more than 70 international, indexed, scientific publications and he has done more than 100 oral presentations/lectures/conferences in more than 13 different countries.

· Martin O. Savage ·

Martin Savage is Emeritus Professor of Paediatric Endocrinology at William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary, University of London. He was head of the Paediatric Endocrine Unit at Barts and the London School of Medicine from 1982 to 2007. He has interests in growth disorders, specifically those with abnormalities in the GH-IGF-1 axis and in phenotype-genotype relationships of GH-IGF-1 axis defects, notably GH resistance. He published the first human case of an IGF-1 gene defect in the New England Journal of Medicine in 1996.  His other interests are Cushing’s syndrome and growth in chronic inflammatory diseases. He was General Secretary of the European Society for Paediatric Endocrinology (ESPE) from 1997 to 2004. He has lectured in 60 countries and has published 482 original articles, reviews, textbook chapters and books. In 2007, he was awarded the ESPE Andrea Prader Prize for contributions to paediatric endocrinology and in 2018 he received a Visionary Award from the American Human Growth Foundation. In 2022, he received a Research Excellence Award from the Dr Sulaiman Al Habib Medical Journal in Riyadh, and the British Society of Paediatric Endocrinology & Diabetes James M. Tanner Lifetime Achievement Award. He continues to lecture nationally and internationally.