The conference is intended for individuals with Fabry, family members, parents of kids with Fabry, caregivers and patient advocates. Individuals working with Fabry disease such as healthcare providers and pharmaceutical industry representatives, and all others with a connection to Fabry disease are welcome.
This is an online event. You do not have to travel to any specific location. You can participate anywhere that you have internet access. The event is accessible from desktop, mobile and tablet devices.
She is Director of Psychological Resources for the Emory Genetic Clinical Trials Center, where she participates in clinical drug trials for genetic conditions, as well as conducting her own clinical research into neurocognitive and psychological manifestations of lysosomal storage diseases and other metabolic disorders. She is co-author of the book, "Transitions: Managing Your Own Healthcare: What Every Teen with an LSD Needs to Know."
Dr. Ali also serves as Co-Assistant Director of the Emory Genetic Counseling Master's degree training program, where she trains future genetic counselors in the counseling skills necessary for compassionate, effective patient care. Dr. Ali earned her doctorate in Clinical Psychology from the University of South Florida and completed both an internship in Neuropsychology and a post-doctoral fellowship in Health Psychology.
Dr Alberto Ortiz - Madrid, Spain
Alberto Ortiz is Chief of Nephrology and Hypertension at the Health Research Institute of the Jiménez Díaz Foundation (IIS-FJD UAM), Madrid, Spain, and Professor of Medicine at the Autonomous University of Madrid (UAM). Professor Ortiz’s research interests include the pathogenesis and treatment of acute kidney injury, diabetic nephropathy and proteinuric chronic kidney disease, vascular injury in kidney disease, Fabry disease, and systems medicine.
He is Editor-in-Chief of the Clinical Kidney Journal, an editorial board member of the Journal of the American Society of Nephrology, a council member of the European Renal Association (ERA-EDTA), a member of European Uremic Toxins (EUTox) Work Group and European Renal Best Practice (ERBP) Organization, coordinator of the Spanish Renal Research Network (REDINREN), ERA-EDTA Award for Research Excellence 2020, Distinguished Fellow of the ERA-EDTA, and corresponding member of the Spanish Royal National Academy of Medicine.
Prof Dominique Germain – Garches, France
Doctor Dominique P. Germain is Professor of Medical Genetics at the University of Versailles(UVSQ), and head of the Division of Medical Genetics at the Raymond Poincaré Hospital (AP-HP) in Garches, France.
He is also Director of the French Referral Center for Fabry disease in Garches, France. In 2016, Prof Germain was appointed Director of a European Referral Centre for rare disorders (MetabERN: rare metabolic diseases) at the Hôpitaux Universitaires Paris Ile de France Ouest. In 2017, he also became the Director of a Centre of Expertise for developmental disabilities band rare disabling congenital malformations. He has a strong interest in enzyme replacement therapies, chaperon therapies, the genetics of neuro-muscular diseases, and the use of clinical exome sequencing for deciphering unknown disabling genetic diseases. Throughout his career, Prof Germain has contributed extensively on the topics of Fabry disease and hereditary diseases of connective tissue. He has written several book chapters and has published over 130 peer-reviewed papers in medical journals.
Dawn Laney - Atlanta, USA
Dawn Jacob Laney is a genetic counselor, assistant professor, clinical researcher, program leader of the lysosomal storage disease center, and director of the Emory Genetic Clinical Trials Center in the Department of Human Genetics at Emory University in Atlanta, Georgia. Her clinical and research interests focus on Fabry disease.
She is a cofounder of ThinkGenetic, Inc., which empowers patients with information about possible genetic causes for their medical issues and provides real-life answers to their questions about the impact of living with a genetic disease. Ms. Laney enjoys writing children’s books (most of which are about living with Fabry disease).
Dr Eva Klara Merzel Sabovic – Slovenia
Eva Klara Merzel Sabovic, MD, is a third-year dermatology resident at the Department of Dermatology and Venereal diseases, University Medical Center Ljubljana, Slovenia. She is interested in all fields of dermatology, from clinical issues to the research. She is also a PhD student. She has already published three articles in international dermatology journals. She is a member of the European Academy of Dermatology and Venereology. Her particular interest is in systemic diseases which manifest on skin, such as Fabry disease, psoriasis and oncodermatology. Besides her love for medicine, she also loves traveling, sport and being in nature.
Dr Camilla Tøndel - Norway
Camilla Tøndel has since licensing of Fabry-specific treatment in 2001 been responsible for follow-up of children and adults with Fabry disease, and in 2013 she finalised her PhD on evaluation of kidney disease and enzyme replacement therapy in Fabry disease. Renal biopsies and GFR measurements are important in many of the investigator initiated and pharmaindustry initiated studies she participates in, included GMO-based first-in-human research. Pharmacokinetics in clinical trials and as tool in evaluation of renal function (iohexol clearance) is central in her research, as also immunologic mechanisms and treatments within various organ systems/diseases. As part of the board in NorCRIN (since 2012) and NorPedMed (since 2014) she works for more clinical trials and innovative treatments
Shaneel Pathak - Canada
Zamplo was born from a desire to improve how patients and their caregivers manage complex illnesses. Shaneel faced these challenges in 2013, after his late-wife was diagnosed with Stage-4 lung cancer. During their four year journey, Shaneel realized that there were limited digital tools available to consolidate and collate the scattered information for himself, family and their care-team. Shaneel co-founded Zamplo with the ultimate goal to empower patients with their own healthcare data to correlate effects, and reduce the emotional fatigue and financial impact.
Shaneel has a B.Eng. in Computer Engineering, a M.A. in Political Economy and has worked in six countries as an IT management consultant. His business and personal experience influenced the design of Zamplo. Shaneel is a speaker on the power of health data in your hands at healthcare conferences across Canada; a pilot and avid traveler.
Evelien Tump – The Netherlands
Evelien is a nurse practitioner in the Amsterdam UMC location AMC in the Netherlands.
She specializes in lysosomal storage disorders in pediatric metabolic patients. She is reponsible for the organisation en the coordination of home care infusions.
Dr Robert Hopkin - USA
Robert J. Hopkin, MD, is an associate professor of clinical pediatrics at Cincinnati Children's Hospital Medical Center within the University of Cincinnati College of Medicine. Dr. Hopkin graduated from the University of Nevada Medical School. He completed residency and chief residency in pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Combined Residency Program. His training in medical genetics was completed at Cincinnati Children's Hospital Medical Center.
The majority of Dr. Hopkin's time is spent in caring for patients with genetic disorders. He participates in clinics from Fetal Care to Adult Genetics. He is also actively involved in education of health care providers regarding the application of genetics for patient care. Dr Hopkin has participated in a number of clinical trials and is a member of American College of Medical Genetics Committee on Therapeutics. He has participated in natural history studies on Fabry disease, Pompe disease, velocardiofacial syndrome, Pierre Robin sequence, neurofibromatosis type I, and several other genetic conditions. The unifying principle in his research interests is application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.
Dr Zhang Wei – China
Dr Zhang Wei is the Chief Physician, MD, Associate Professor at the Neurology dept. at the Peking University First Hospital. She is also a member of the Neurology Pathology Committee, China Society of Neurology, China Medical Association Member of Youth Committee and a member of the Beijing Medical Association Member of Neuromuscular Diseases Committee and the Beijing Medical Association. Her focus of expertise is in genetic and acquired peripheral neuropathy & myopathy, Fabry disease, hereditary cerebral small vessel disease, and other rare disease of neurology.