Neurodegeneration with brain iron accumulation (NBIA), including pantothenate kinase-associated neurodegeneration (PKAN) and infantile neuroaxonal dystrophy (INAD)

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My laboratory has identified major genes for NBIA, including PANK2, PLA2G6 and FA2H. Our research goals are to advance understanding of disease pathogenesis in order to develop rational therapies. We seek patients with NBIA for inclusion in this research. We are also available to assist with diagnostic evaluations and guide molecular testing.

Our studies are approved by the OHSU IRB and are funded by the NBIA Disorders Association and the Association Internationale de Dystrophie Neuro Axonale Infantile.

Susan Hayflick, MD, FACMG
Molecular and Medical Genetics, Neurology and Pediatrics
Oregon Health & Science University, mail code L103
3181 SW Sam Jackson Park Rd.
Portland, OR 97239
Phone: (503)494-6866
Fax: (503)494-6886
E-mail: hayflick at ohsu.edu

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Last revised 03-Jan-2012 by Steven Leber