Professor Yoshikatsu Eto, M..D. PhD
Prof. Eto is currently a Director of Advanced Clinical Research Center, Instituteof Neurological Diseases and Professor Emeritus , Jikei University School of Medi-cine. He served as a Professor and chairman, Department of Pediatrics, Director ofDNA Institute for Medical Science and also Vice President, University Hospital, theJikei University School of Medicine. Prof. Eto studied for more than 40 years inthe field of lysosomal storage diseases and has left many achievements. He alsoserved as a President of Japan Pediatric Society for four years and also as aPresident of Japan Society of Inherited Metabolic Disorders for 7 years. He hasbeen leading the research in Pediatrics in Japan. Internationally, he also serves asa Standing Committee Member of International Pediatric Association for 6 yearsand as a President of the 10th International Congress of Inborn Error ofMetabolism, 2006, Tokyo. He contributed to the establishments of Asian Societyof Pediatric Research and also Japan Society of Gene Therapy, and is also afounder of Japan Society of LSD. He published more than 350 English writtenpapers. Currently, he has studying about clinical and basic research in LSD,particularly, Fabry disease, Pompe disease and genetic leukodystrophy, and also iPSresearch in LSD, as well.
Professor Atul Mehta, MA, MD, FRCP, FRCPath
Professor Mehta is a Consultant Haematologist and Physician at the Royal FreeHospital in London, part of the Department of Haematology of University CollegeLondon School of Medicine. He completed his undergraduate training at CambridgeUniversity and Kingfs College Hospital. He then trained in General InternalMedicine at Kingfs College Hospital and Hammersmith Hospital in London and inHaematology at the Hammersmith Hospital. He has been in his current post since1986 and is Clinical Director of one of the nationally designated LysosomalStorage Disorders Units, which focus on multidisciplinary assessment and treat-ment of LSDs. This is one of the largest centres for adult patients with inheritedmetabolic diseases in the UK, and he works with a team of nurses, physicians andresearchers who are committed to developing and delivering care to patients andfamilies. He is also the Head of the Myeloma service in the largest hospital inLondon who provide high quality clinical services as well as running clinical andlaboratory research. He is a senior examiner in Haematology and Medicine at theUniversity of London and with the Royal College of Pathologists. He is the authorof 3 books, more than 40 Chapters and over 300 publications in peer reviewedjournals.
Christine Lavery MBE
Christine Lavery was appointed Chief Executive of the Society forMucopolysaccharide and Related Diseases (MPS) in 1993. During her time at MPSshe has taken the charity to new heights, employing 21 members of staff,managing a substantial research budget and a unique UK-wide advocacy serviceproviding needs led support to nearly 1300 children and adult sufferers, theirfamilies and professionals in areas of home adaptations, special educational needs,access to new thera-pies, respite care, palliative care and pre- and post-bereavement support. Christine has served on the Department of health AdvisoryBoard on Genetic Testing and is currently a patient representative on the NHSEngland LSD Specialised Commissioning Advisory Group. Christine was awarded theMember of the British Empire for her services to Metabolic diseases by the Queenin the New Yearfs Honours List for 2002 and at the 2006 International Symposiumon Mucopolysac-charide and related diseases received eA Life Time Awardf fromthe International MPS Community. Christine continues to promote the needs ofMPS, Fabry and related Lysosomal Storage Diseases across nations and workingclosely with the MPS International Network.
Professor Dominique P. Germain
Doctor Dominique P. Germain is Professor of Medical Genetics at the Universityof Versailles - St Quentin en Yvelines (UVSQ), and head of the Division of MedicalGenetics at the Raymond Poincare Hospital (AP-HP) in Garches, France.Professor Germain graduated in medicine, from the University of Nancy I, France,and went on to specialize in dermatology at the University of Nancy and in humangenetics at the University of Paris V (Rene Descartes), France. In 2007, Profes-sor Germain has been appointed Professor at the University of Versailles (UVSQ),France. Throughout hiscareer, Professor Germain has written extensively on thetopics of Fabry disease and hereditary diseases of connective tissue. He haswritten several book chapters and has published over 100 peer-reviewed papers inmedical journals.
Ichiei Narita, M.D.
Dr. Narita is the chief Professor of Medicine, Nephrology and Rheumatology atNiigata University Medical School, Niigata, Japan. He has graduated from NiigataUniversity Medical School in 1983. He has been recognized for his contributions toresearch and clinical managements of kidney diseases, including primary andsecondary glomerulonephritis, diabetic kidney diseases, drug-induced kidney injury,as well as inherited kidney diseases. Recent his major research interests are ingenetic study to clarify the mechanism of initiation and progression of IgAnephropathy, molecular genetics and cell biology of primary glomerulonephritis,bone and calcium metabolism in chronic kidney failure, clinical and genetic analysisof autoimmune diseases, complications in ESRD patients, and clinical man-agement of Fabry disease patients. He is now a board certified member of theJapanese Society of Internal Medicine, and a member of board directors of theJapanese Society of Nephorology (JSN) and the Editor in chief of the officialjournal of JSN, Clinical and Experimental Nephrology
Dr Dau-Ming Niu M.D. PhD
Dr. Dau-Ming Niu is a professor in Institute of Clinical Medicine at National Yang-Ming University and director of Genetic and Endocrinology Division, Research andTreatment Center of Rare Disease at Taipei Veterans General Hospital. Dr. Niureceived his M.D. from Kaohsiung Medical University and was a clinical andresearch fellow at National Taiwan University Hospital. He had advanced studies inProfessor Yuan-Tsong Chenfs laboratory in medical genetics at Duke Univer-sity.After coming back to Taiwan, Dr. Niu received his PhD degree from National Yang-Ming University of Clinical medicine. Dr. Niufs research interests include medicalgenetics and endocrinology. His research in 6-pyruvoyl-tetrahydropterin synthasedeficiency has the most outstanding treatment outcome ranking No. 1 in the worldso far. In addition, his team found that Taiwanese aboriginals have the highestprevalence of homocysteinuria and inherited Retinitis Pigmentosa across theglobe. In recent years, Dr. Niu focused his studies intensively on lysosomal storagediseases and his team is the first one to discover that Taiwanese have the highestprevalence of Fabry disease in the world. At the same time, a research andtreatment center of rare disease was also established, which is the first centerintegrating research and medical expertise of different areas in the rare diseasefield in Asia.
Megan Fookes OAM
Megan is a mother of 2, one who is diagnosed with Fabry disease as well as herself,a former educator, a voluntary Director o f Fabry Australia and the Advisor Policy& Stakeholder Relations at Rare Voices Australia; a Not for Profit National Alliancefor Rare Diseases in Australia. Her professional association with Rare Diseasesstems from a very personal connection. Her late father waited 48 years to receivea diagnosis of Fabry disease. Her parents who were very keen to learn more formedFabry Australia 22 years ago. She has been working in the rare disease sectorsince 1999. Fabry Australia successfully advocated on behalf of the AustralianFabry community to receive two Commonwealth funded therapies back in 2004under the Life Saving Drugs Program. Megan sits on many other Committees andAdvisories and served on the FIN Board for 3 years. Megan is keen to utilise herpersonal and professional experience to make a real difference and advocating fora National Plan and Rare Disease Policy ensuring people impacted by rare diseaseshave better health incomes in the future. Megan Fookes, was recently awarded theMedal of the Order (OAM) on Australia Day. Megan has dedicated the award to herlate father who lived with Fabry Disease and to all adults, children and families whoare doing their very best living with rare diseases.
Dr Derralynn Hughes
Dr Derralynn Hughes is Senior Lecturer in Haematology at the University CollegeLondon, UK and consultant haematologist at the Royal Free London NHSFoundation Trust. She has clinical responsibilities in the area of Haematology andLysosomal Storage Disorders (LSD). She also directs the research programme inthe LSD unit research laboratory where interests include understandingphenotypic heterogeneity in Fabry Disease and the pathophysiology of bone relatedpathology and malignancy in Gaucher disease. Dr Hughes is Principle Investigatorof a number of clinical trials examining the efficacy of Enzyme ReplacementTherapy and other new agents in the treatment of Gaucher, Fabry, Pompe andmucopolysaccharidosis (MPS) disorders. She is an author of over 120 papers in thearea of macrophage biology and Lysosomal Storage Disorders.
Toya Ohashi M.D.
Dr. Ohashi was graduated from The Jikei University School of Medicine in 1981.After 2 years residency of pediatrics, he joined department of pediatrics at TheJikei University School of Medicine and started study for lysosomal storagedisease under direction of Prof. Eto. He spent 3 and half years in US to studymolecular genetics of lysosomal storage disease. During his stay in US, he startedto study gene therapy for lysosomal storage. From 1995, he moved to Researchcenter for Medical Sciences in The Jikei University School of Medicine andcontinue to study novel therapeutic approach to lysosomal storage diseasesincluding gene therapy. He was involved in clinical trial of enzyme replacementtherapy for Fabry disease in Japan. He was now director of Research Center forMedical Sciences in The Jikei University School of Medicine. His major interest isdevelopment of novel therapy, especially gene therapy, for lysosomal storagedisease. He is still working as a clinician and taking care of more than 30 Fabrypatients in outpatient clinic.
Professor Christoph Kampmann
Uma Ramaswami is a Consultant Paediatrician in Inherited Metabolic Disordersbased at the Lysosomal Disorders Unit at the Royal Free Hospital, London. Shetrained in Inherited Metabolic Disorders in Temple Street Hospital, Dublin andGreat Ormond Street Childrenfs Hospital; she completed MSc in Clinical Paediat-rics (Distinction) and MD from University College London on Skeletal Dysplasia.Uma has a special interest in clinical research relating to the understanding of thenatural history and disease progression Inherited Metabolic Disorders; and has alsobeen a Principal Investigator for pivotal clinical trials of enzyme replacement inchildren with Lysosomal Storage Disorders (LSDs) and related disorders with afocus on Anderson-Fabry Disease. She has over 50 peer reviewed publications onthis subject. At the Royal Free Hospital, Uma is leading research relating to LSDsin children, adolescents and young adults and is also the National Clinical Lead forthe UK Paediatric Familial Hypercholesterolaemia Register. Uma is actively involvedin the Transition service for young patients with LSDs at the Royal Free Hospitalwith her adult colleagues; and leads the family clinic for Fabry Disease, a one stopclinic for parents and children with Fabry Disease.
Professor James Moon
James Moon is a Professor of Cardiology UCL, London and the Clinical Director ofImaging at the Barts Heart Centre (BHC). Formerly, he set up the the HeartHospital Imaging Centre, a dedicated cardiac MRI department performing 3500scans a year with a triple focus on clinical scanning, research and education. Thenew Barts Heart Centre has 3 dedicated CMR scanners (2 1.5T Aeras and a 3TPrisma). The centre is at scale . estimates of annual activity are 8,000 CMR scans,3000 nuclear scans, 3000 CT scans and 40,000 echos. Trained at Cambridge andOxford, his MD at Imperial was emyocardial tissue characterization by CMRf. Hiscurrent research group of 8 fellows have particular interests in measuring diffusemyocardial fibrosis, iron, fat infiltration (Fabrys) and amyloid using "T1 mapping".He has published more than 180 papers and works in partnership to developsurrogate endpoints for clinical trials including first in man studies. Anotherinterest is in making scans faster/cheaper and in improving/maintaining quality asCMR expands. He set up and leads the international T1 mapping development groupaiming to "coordinate activity to the goal of being able to change therapy usingCMR endpoints". He is a former board member of SCMR, the current presidentelect of the British equivalent, BSCMR. He is a former member of NICE. Educationinterests are key to the group and significant successes include the setting up ofweb resources (SCMR video-on-demand, case of the week, online Moodle training,as well as local hands-on training courses.
Dr Andrew Talbot MBBS FRACP, BSc (Hons)
Andrew started his scientific working life in 1992 as a biochemist. He was employedfor several years in the biotechnology sector, involved in research and devel-opment including purification of insulin-like growth factors and associated products.In 2001 he commenced his undergraduate medical training at the University ofMelbourne graduating in 2004. In 2010 he began specialist training in Nephrology atthe Royal Melbourne Hospital, completed in 2012. For the last 3 years he has beenthe Renal Genetics Fellow at the Royal Melbourne Hospital, under the guidance ofA/Prof Kathy Nicholls. He has published research investigating the renal,cardiovascular, osteoporotic outcomes and later sleep disorders in Fabry patients.His work on long-term cardiovascular outcomes in Fabry patients has beenpresented nationally and internationally. Ongoing research in Fabry diseaseincludes cerebrovascular and respiratory outcomes and factors affecting bonehealth. He is also involved in several international clinical trials for Fabry disease,SLE, Alports and Inherited Renal diseases.
Jack Johnson
Jack Johnson was born in 1963 in Missouri, a state in the middle of the U.S. Hegrew up on cattle ranches, a dairy and farms across the Midwest and western U.S.Jack has Fabry disease along with many family members. They have traced Fabryback to his grandfatherfs grandmother. Jack is married to Debra and has two bigboys. Jack is the founding member of the Fabry International Network and is nowhonoured to be the vice-president. Jack is one of the founders and executivedirector of the Fabry Support & Information Group (FSIG) in the U.S. Jack believesthat his years of experience with FSIG will help with the manage-ment of FIN andhopes to gain beneficial knowledge from greater involvement in the internationalFabry community.
Anna Meriluto
Anna Meriluoto holds a Master of political science degree from the University ofHelsinki. She has over 10 years of experience as a volunteer in patient advocacyand she has been an active board member of the Finnish Fabry Association sinceits establishment in 2003. Coming from a small country Anna has alwaysconsidered the role of international patient relations as pivotal and she has been amember of the Fabry International Network board of directors for the past 6 years.Through Fabry International Network she keeps in regular contact with EURORDISand she was trained to become an eligible patient advocate in clinical trials andpharmacovigilance at the EURORDIS Summer School in Barcelona in 2011. In herinternational role she has travelled extensively to speak about Fabry Disease inconferences such as the first All-Russian Conference for Rare Diseases in St.Petersburg in 2011 and the first Eurasian Conference for Rare Diseases inMoscow in 2012. Anna was also one of the founding members of HARSO, the firstever Rare Disease Organisation in Finland in 2012. Her professional back-ground isin travel industry but she has been a college lecturer for the past 7 years. Being aFabry patient herself along with her mother and older brother Anna shares FINLsvision of a world where every single person affected by Fabry disease has the bestquality of life possible through early diagnosis, treatment and cure.
Anne Grimsbo
Anne Grimsbo was born in 1962 in Denmark. Fabry was a part of her life from earlychildhood, as her father was a Fabry patient and his brother died from Fabry at theage of 32. Anne is married to Rune. They have two boys of 23 and 21 who are notaffected by Fabry thanks to prenatal diagnosis. Anne is a social educator and isworking full time as an areal leader of three preschools and 27 daycare homes.Annes cousin founded the Danish Patient Organization back in 2002. In 2013 shebecame chair of the organization. In 2014 she joined the FIN board. Anne hasreceived ERT treatment since the age of 45 and in 2010 she joined the trial ofchaperone capsules.