Rethinking Fabry Disease: Reasons to Look into the Future
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A. Fabry disease is a multisystem disease that affects many organs, including the kidney, heart, and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.
In this session, sponsored by Chiesi's new Rare Global Disease unit, Robert Hopkin, MD, will give a brief overview of Fabry disease and discuss some of the diagnostic difficulties that can make recognition of this condition so challenging, as well as some potential future directions for therapeutic developments in this space. Then, David Warnock, MD, will share his experience with Fabry nephropathy, a common manifestation of Fabry disease.
Giacomo is Head of Global Rare Diseases at the Chiesi Group, where he leads the team developing and commercializing treatments for rare and ultra-rare diseases. He was previously Head of Global Corporate Development at the Chiesi Group, where he helped Chiesi enter and grow its presence in the US market, selectively expand in the over-the-counter space in Europe, and establish a global portfolio and pipeline in rare diseases. This broad expansion culminated in the development of a new business unit: Global Rare Diseases.
Robert Hopkin, MD, is an Associate Professor of Clinical Pediatrics at Cincinnati Children's Hospital Medical Center. Dr Hopkin graduated from the University of Nevada Medical School in 1990 and completed his residency and chief residency in Pediatrics at the Phoenix Children's Hospital, Maricopa Medical Center Pediatrics Residency Program in 1994. He completed his training in Medical Genetics at Cincinnati Children's Hospital Medical Center in 1997.
Most of Dr Hopkin's time is spent caring for pediatric patients with genetic disorders. He participates in clinics from Fetal Care to Adult Genetics. As the Director of the Medical Genetics Residency and Fellowship Programs at Cincinnati Children's Hospital, he is also actively involved in the education of health care providers regarding the application of genetics for patient care. Dr Hopkin has participated in several clinical trials and is a former member of the American College of Medical Genetics Committee on Therapeutics. He has participated, or is currently participating in natural history studies on Fabry disease, Pompe disease, velocardiofacial syndrome, 1p36 deletion syndrome, neurofibromatosis type 1, hypophosphatasia, and other genetic conditions. The unifying principle in his research interests is the application of scientific knowledge to improve outcomes for patients afflicted with genetic disorders.
Dr. David Warnock received a BA degree in 1966 from the University of California at Berkeley and received his MD degree in 1970 from the University of California, San Francisco. Following a fellowship at the NIH, his positions included Section Chief at the San Francisco VA Medical Center, Director of Nephrology at the University of Alabama at Birmingham (UAB) from 1988 to 2008, and Director of the Office of Human Research at UAB from 2005 to 2008. He served as the Marie K Ingalls Professor of Medicine and the Hilda B. Anderson Endowed Professor in Nephrology at UAB, and became an Emeritus Professor of Medicine at UAB in October 2015.
Dr Warnock's focus is on the genetic and environmental factors that contribute to hypertension and chronic kidney disease. The spectrum extends from basic studies of salt and water transport systems to population-based studies of the prevalence of CKD and the association with stroke and heart disease. Another focus is inherited disorders of renal function, with a current emphasis on the renal manifestations of Fabry disease. Additional research interests include acid-base physiology, sodium transport mechanisms, chronic kidney disease, diabetes and kidney disease, and inherited renal diseases.
