our people
Scientific Advisory Board
Prof. Joost Frenkel
MD, PhD
Joost Frenkel is emeritus professor of pediatrics in Utrecht, the Netherlands. He obtained his MD at the University of Amsterdam, specialized in Pediatrics and later in Pediatric rheumatology and immunology at the Academic Medical Center Amsterdam and at Great Ormond Street Hospital for Sick Children, London. Since the beginning of this century he worked as a clinician-scientist at the Wilhelmina Children’s Hospital of Utrecht University Medical Center. His scientific career centered on autoinflammatory diseases, notably Mevalonate Kinase Deficiency. Over the past decades he contributed to the elucidation of the genetic cause, molecular pathogenesis and introduction of effective treatment of this disorder. Current research is aimed at therapy for treatment resistant patients.
Ivona Aksentijevich
MD Associate Investigator, Inflammatory Disease Section, National Human Genome Research Institute (NHGRI/NIH)
Dr. Ivona Aksentijevich obtained her medical degree from Belgrade University in the former Yugoslavia. In 1990 she joined the National Institutes of Health (NIH). In 2010, she moved to the National Human Genome Research Institute (NHGRI) and continues to study the genetics of monogenic autoinflammatory diseases. Dr. Aksentijevich is certified in clinical molecular genetics by the American Board of Medical Genetics, and supervises a CLIA-certified laboratory for autoinflammatory diseas diagnostics in the Inflammatory Disease Section (IDS). Her scientific accomplishments are numerous, and include the identification of several genes underlying known autoinflammatory diseases as well as the discovery of multiple previously unknown conditions. She is a past president of the International Society of Systemic Autoinflammatory Diseases (ISSAID).
Prof. Mike Rogers
PHD
Prof Mike Rogers gained his Honours degree in Biochemistry and a PhD in Pharmacology at the University of Sheffield, UK. He then held several academic positions at the University of Aberdeen in Scotland, including Chair of Musculoskeletal Pharmacology, and led the multi- disciplinary Musculoskeletal Research Program. In 2012 Mike relocated to the Garvan Institute in Sydney, Australia as a Laboratory Head & conjoint Professor at UNSW Sydney and now leads the Immunometabolism Lab. In his early career, Mike pioneered a variety of ground-breaking approaches to study the mevalonate pathway and identified an enzyme of this metabolic pathway as the target of bisphosphonates (a global blockbuster class of osteoporosis drugs). For the past 10 years his research has focused on defining how disruption of the mevalonate pathway in the rare genetic disorder MKD leads to systemic autoinflammatory disease, with the goal of developing a simple diagnostic test and effective, affordable precision therapies. Mike has strong links with clinicians and the pharmaceutical industry, and has held leadership roles in national and international societies, journal editorial boards and grant committees, supervised 25 PhD students and mentored >16 postdoctoral staff. His publications have >24,000 citations and are cited in >275 patent applications.
Maurine Jouret
MD
Pediatric Rheumatology and Autoinflammatory Diseases, Hospices Civils de Lyon, France. Dr. Maurine Jouret is a Belgian physician working in pediatric rheumatology and rare autoinflammatory diseases at the Hospital Femme Mère Enfant, Hospices Civils de Lyon, France. She is affiliated with CEREMAIA, the French reference center for rare autoinflammatory diseases and inflammatory amyloidosis. Her clinical and research interests include periodic fever syndromes, monogenic autoinflammatory disorders and innovative treatments and cell therapies, reflecting her background in pediatric immunology. She is also involved in national and international research networks dedicated to juvenile inflammatory and autoinflammatory diseases, with the aim of strengthening real-life data collection, harmonizing clinical practices and supporting translational research for rare diseases.
Marco Gattorno
MD
Marco Gattorno is a Pediatric Rheumatologist and Head of the Unit of Rheumatology and Autoinflammatory diseases at IRCCS Istituto G. Gaslini in Genoa. His main scientific interests include clinical and pathogenic characterization of autoinflammatory diseases and vasculitis. He is author of 428 full-papers on international journals (H-index 80) and of many book chapters including “Familial Mediterranean Fever” (Springer). He is the current President of the Italian Society of Pediatric Rheumatology and the Principal Investigator of the “Eurofever” Project (www.printo/eurofever) since 2008. Previously, Dr Gattorno was President of the International Society of Systemic Autoinflammatory Diseases (ISSAID).
Prof. Hans Waterham
PHD
Hans R. Waterham is Professor Functional Genetics of Metabolic Diseases, principal investigator, and certified Dutch and European Clinical Laboratory Geneticist (VKGL and EBMG) at the Amsterdam University Medical Centre in The Netherlands. Central in his translational research is to study the cause and consequences of human genetic defects in order to understand the pathogenesis and as a prerequisite to the development of targeted therapeutic interventions. His current research interest is functional genetics of metabolic disorders in a broad sense, with special focus on defects in peroxisome biogenesis/function and cholesterol/isoprenoid biosynthesis. His research is characterized by multi- and cross-disciplinary approaches combining contemporary genetic, biochemical, metabolomics, and cell biological methodologies and using different model systems (mammalian and human cells, mice, yeast). He is co-founder and co-director of the United for Metabolic Diseases consortium, which unites clinicians, laboratory specialists and researchers from the 6 Dutch Academic Metabolic Centers and patient organizations to optimize diagnostics, treatment, care and research of and increase awareness on inherited metabolic diseases. He established and for >20 years headed the laboratory’s DNA diagnostic unit focused on clinical genetic testing of inborn errors of metabolism. He is (co-) author on >325 peer-reviewed scientific publications (PubMed) and has an h-index of 68 (WoS).
Actively recruiting
Join the Scientific Advisory Board
We're always looking to expand our board and are actively recruiting members with expertise in:
- Genetics & Gene Therapy: Visionaries in platform-agnostic gene editing and delivery.
- Clinical MKD Care: Specialists in diagnosis and longitudinal research.
- Autoinflammatory Science: Experts in innate immunity and systemic inflammation.
- Translational Biotech: Leaders in moving discoveries from the lab to the clinic.
Join us to engineer the first curative intervention for MKD. All inquiries should be sent to Isabella Sá Freire at isabella@curemkd.org.