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Primary Hyperoxaluria is a rare genetic
disease that results from endogenous (primary) overproduction of oxalic
acid. Research on the disease has elucidated the metabolic defects and
molecular genetic basis for two forms of the disease, and has led to improved
diagnosis and treatment. However, more research is clearly needed to develop
novel approaches for treatments and, eventually, cures. The goals of this
NIH-sponsored meeting on primary hyperoxaluria are to summarize knowledge
that can be used to develop consensus algorithms for diagnosis and treatment,
apply new science to influence the phenotypic expression, and promote
participation in clinical and mutation databases.
ORGANIZING COMMITTEE
Craig Langman, MD
Isaac A. Abt, MD Professor
of Kidney Diseases
Feinberg School of Medicine,
Northwestern University
Chicago, IL
Dawn Milliner, MD
Professor of Internal Medicine and Pediatrics
Medical Director,
Mayo Clinic Hyperoxaluria Center
Rochester, MN
Gill Rumsby, PhD
Consultant Clinical Scientist
Department of Clinical Biochemistry
University College London Hospitals
London, UNITED KINGDOM
NIDDK STAFF
Marva Moxey-Mims, MD, FAAP
Program Director, Pediatric Nephrology and Renal Centers
Division of Kidney, Urologic, and Hematologic Diseases
Rebekah Rasooly, PhD
Program Director, Genetics & Genomics
Division of Kidney, Urologic, and Hematologic Diseases
SPONSORS
National Institute of Diabetes and Digestive and Kidney Diseases
Oxalosis & Hyperoxaluria
Foundation
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NIDDK
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