Our independent scientific advisory board consists of world-leading experts on AKU. Together, they help to guide our scientific research by advising on study design and the awarding of funding. Crucially, our board helps to foster international collaboration into AKU research.
Richard Imrich
Richard Imrich, MD, DrSc. Associate Professor has been working in the field
of clinical research of neuroendocrine immune and metabolic
interactions for more than two decades. He defended his PhD thesis in
2003 and his doctoral dissertation in 2014. In 2004 he was a
postdoctoral at the Vrije Universiteit in Brussels and in 2005 – 2008
he was a visiting fellow at NINDS / NIH Bethesda, MD, USA. From 2008
to June 2013, he was a director of the Centre for Molecular Medicine of the Slovak Academy of Sciences. Since 2017 until 2022 he has been the general director of the National Institute of Rheumatic Diseases in Piešťany. He is the
author or co-author of more than 120 scientific publications with more than 2200 citations, h-index 27 (Scopus).
Andrea Zatkova
Dr. Andrea Zatkova is a senior scientist at the Department of Human Genetics of the Biomedical Research Center of the Slovak Academy of Sciences. She obtained her PhD in 2000 in Human Genetics from the Comenius University. Since the beginning of her career, her research activities focused on the genetic bases of different rare genetic diseases, such as SMA, DMD, NF1, and CF. Her interest in AKU began in 1998 during the collaboration with Prof. Santiago Rodriguez de Cordoba at Fundacion Jiménez Diaz for the characterisation of the HGD gene variants in Slovak AKU patients. Between 2001-2008, she worked as a postdoc in the Laboratory of Medical Biology of Vienna Medical University, studying the genetic background of hepatoblastoma and different types of leukemia, as well as mutation analysis in NF1 and mismatch repair genes.
Andrew Pitsillides
Andrew Pitsillides is member of the Skeletal Biology Group and leads the Comparative Physiology and Clinical Sciences Research Programme at the Royal Veterinary College, London. His research studies have explored skeletal mechanobiology across diverse biological settings; from the role of embryo movement in the emergence of skeletal form, to how bones and joints respond to functional/traumatic load in growth, adulthood and ageing and pioneered innovative non-surgical mouse models for in vivo bone and joint loading. He received a PhD (1988) funded by a Special Wellcome Trust Award at the world-renown Kennedy Institute of Rheumatology. His research group now explores mechanobiology of endochondral ossification, with a specific focus on identifying key targets for translation. These include use of spontaenous OA in STR/Ort mice and state-of-the-art imaging of the joint’s osteochondral unit. Andrew is a Fellow of The Royal Society of Biology, Anatomical Society, and Higher Education Authority, Board Member of the Bloomsbury Centre for Skeletal Research and was recently honoured to receive the Fell-Muir Award from the British Society for Matrix Biology which he is now very proud to serve as its Chair.
Joery De Kock
Prof. Dr. Pharm. Joery De Kock graduated in 2006 as Pharmacist and obtained his PhD in Pharmaceutical Sciences in May 2012 at the Vrije Universiteit Brussel (VUB). He is since 2017 a full-time professor affiliated to VUB at the department of In Vitro Toxicology and Dermato-Cosmetology (IVTD) and was previously a postdoctoral research fellow of the Research Foundation Flanders (FWO) from 2012 until 2017. From 2016 to 2018, he was a visiting researcher at the Institute of Biotechnology of the RWTH Aachen University in Germany. During this period he acquired expertise in state-of-the-art directed protein evolution technology. His “Liver Therapy & Evolution” (LiTE) research team focuses on the development of (1) in vitro and in vivo disease models as well as (2) innovative cell, gene and enzyme replacement therapies for inherited and acquired metabolic liver diseases.
Peter Fabian
Dr. Peter Fabian serves as an assistant professor at the Department of Experimental Biology, Masaryk University in Brno, Czechia. He earned his PhD in Developmental and Cellular Biology from Charles University in 2016. Subsequently, he held a postdoctoral research position at the University of Southern California, where he specialised in the zebrafish model organism. In 2022, he began his independent research career and will soon lead a group at the Dioscuri Center for Stem Cell Biology and Metabolic Diseases, commencing in 2024.
Mohammed Al-Sbou
Dr Mohammed Al-Sbou is a professor in clinical pharmacology, pharmacogenetics and precision medicine. He has more than 17 years of progressive experience in teaching and conducting research in the field of clinical pharmacology. His research work focuses on two areas: the first concerns with pharmacogenomics, precision medicine, pharmacovigilance and safety of medications. The second focuses on rare genetic disorders specially AKU. He is the medical director, co-founder and chairman of the AKU Society in Jordan and was a member of the DevelopAKUre consortium.
Alan Boyde
Alan Boyde is Emeritus Professor of Mineralised Tissue Biology at Queen Mary University of London and University College London and also an Honorary Professor in the Experimental Biophotonics Research Group at CEITEC in Brno, Czech Republic. His main research focus is on comparative skeletal and dental and hard tissue development, structure, function and disorders and the development and introduction of novel microscopic techniques for this area. He pioneered the introduction of Scanning Electron Microscopy in Biology and was an early enthusiast for confocal optical microscopy. He introduced quantitative methods in polarised light microscopy for the study of extracellular matrix organisation, first using circularly polarised light, and recently an automated instrument rotating the polarising filters.
Edward Lock
Edward Lock is an Emeritus Professor at Liverpool John Moores University. He holds a PhD from the MRC Toxicology Unit, Carshalton. His research has focussed on understanding the mechanistic basis for target organ toxicity-induced by foreign compounds, with particular focus on the brain, liver, kidney, lung, eyes and nasal epithelium when at the MRC Toxicology Unit and during his time in industry at the ICI Central Toxicology Laboratory. While at the ICI, he led a team looking at a herbicide when they discovered it was a potent inhibitor of an enzyme in the catabolism pathway for tyrosine, resulted in hypertyrosinaemia and ocular toxicity. In collaboration with a group at Gothenburg University and Sahlgrenska University Hospital we used this herbicide to treat children with a rare inborn error of metabolism called tyrosinaemia type 1 which was fatal within the first two-years of life. The chemical worked and is now widely available to treat children with this disorder. The drug is called nitisinone, and Ted’s work laid the foundation for the AKU Society’s DevelopAKUre consortium which led to nitisinone being repurposed for AKU.
Wendy Introne
Dr. Introne is a paediatrician, clinical and biochemical geneticist in the Medical
Genetics Branch at the National Human Genome Research Institute, National
Institutes of Health, USA. She completed her M.D. at the University of New
Mexico; pediatric residency at Children’s National Medical Center in
Washington, D.C.; fellowship training in clinical genetics and clinical
biochemical genetics at the NIH in Bethesda, MD.
Dr. Introne has dedicated her career to rare inherited and metabolic
disorders. For more than two decades she has been engaged in natural
history studies and clinical trials at the NIH. She has studied alkaptonuria
since 2000 and has personally cared for more than 180 patients with
alkaptonuria. She is currently the Principal Investigator of the natural history
protocol and was also the lead Associate Investigator on the initial clinical
trial investigating nitisinone use in patients with alkaptonuria.