William A. Gahl

William A. Gahl, MD, PhD is the current Clinical Director of the National Human Genome Research Institute at the NIH main campus in Bethesda, MD.

Dr. Gahl graduated with a BS from Massachusetts Institute of Technology in 1972. He earned his MD from the University of Wisconsin, Madison in 1976 and his PhD in 1981. Dr. Gahl is a board certified medical geneticist.

Dr. Gahl studies rare inborn errors of metabolism through the observation and treatment of patients in the clinic and through biochemical, molecular biological, and cell biological investigations in the laboratory. His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases. ["Gahl Lab." Genome. Com. 16 June 2008. National Human Genome Research Institute. 24 June 2008 .]

Selected Publications

Papers

* Phornphutkul C., Introne W.J., Perry M.B., Bernardini I., Murphey M.D., Fitzpatrick D.L., Anderson P.D., Huizing M., Anikster Y., Gerber L.H., Gahl W.A. Natural history of alkaptonuria. N Engl J Med, 347:2111-2121. 2002.
* Gahl W.A., Thoene J.G., Schneider J.A. Cystinosis. N Engl J Med, 347:111-121. 2002.
* Kleta R., Romeo E., Ristic Z., Ohura T., Stuart C., Arcos-Burgos M., Dave M.H., Wagner C.A., Camargo S.R.M., Inoue S., Matsuura N., Helip-Wooley A., Bockenhauer D., Warth R., Bernardini I., Visser G., Eggermann T., Lee P., Chairoungdua A., Jutabha P., Babu E., Nilwarangkoon S., Anzai N., Kanai Y., Verrey F., Gahl W.A., Koizumi A. Mutations in SLC6A19, encoding BoAT1, cause Hartnup disorder. Nature Genet, 36(9):999-1002. 2004.
* Gunay-Aygun, M., Huizing, M,, Gahl, W.A. Molecular defects that affect platelet dense granules. Thromb Haemostasis, 30(5):537-47. 2004.
* Sonies, B.C., Almajid, P., Kleta, R., Bernardini, I., Gahl, W.A. Swallowing dysfunction in 101 patients with nephropathic cystinosis: Benefit of long-term cysteamine therapy. Medicine, 84:137-146, 2005.
* Suwannarat, P., O'Brien, K., Perry, M.B., Sebring, N., Bernardini, I., Kaiser-Kupfer, M.I., Rubin, B.I., Tsilou, E., Gerber, L.H., Gahl, W.A. Use of nitisinone in patients with alkaptonuria. Metabolism Clin Exptl, 54:719-728, 2005.
* Helip-Wooley, A., Westbroek, W., Dorward, H., Mommaas, M., Boissy, R., Gahl, W.A., Huizing, M. Hermansky-Pudlak syndrome type-3 protein interacts with clathrin and trafficks lysosome-related organelles. BMC Cell Biology, 6:33, 2005.
* Ueda, M., O'Brien, K., Rosing, D.R., Ling, A., Kleta, R., MacAreavey, D., Bernardini, I., Gahl, W.A. Coronary artery and other vascular calcifications in cystinosis patients after kidney transplantation. Clin J Am Soc Nephrol, 1:555-562, 2006.
* Helip-Wooley, A., Boissy, R.E., Westbroek, W., Dorward, H., Koshoffer, A., Huizing, M., Gahl, W.A. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol, 127:1471-1478. 2007.
* Galeano, B., Klootwijk, R., Manoli, I., Sun, M-S., Ciccone, C., Darvish, D., Starost M.F., Zerfas, P.M., Hoffmann, V.J., Hoogstraten-Miller, S., Krasnewich, D.M., Gahl, W.A., Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest, 117:1585-1594. 2007.

Book Chapters

* Gahl W.A., Thoene J., Schneider J.A. Cystinosis: A Disorder of Lysosomal Membrane Transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Companies, Inc., Eighth Edition, pp. 5085-5108. 2001.
* Aula P., Gahl W.A. Sialic Acid Storage Diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B. The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill Companies, Inc., Eighth Edition, pp. 5109-5120. 2001.

References

* "Gahl Lab." 16 June 2008. National Human Genome Research Institute. 24 June 2008 [http://www.genome.gov/10005723] .