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The NIH Undiagnosed Diseases Program - William Gahl PhD, MD
The NIH Undiagnosed Diseases Program  
Emory Grand Rounds
Emory University
School of Medicine
Atlanta, GA  
February 1st, 2010

About the Presentation
On February 1, 2010, Dr. William Gahl of the National Institutes of Health presented "The NIH Undiagnosed Diseases Program" at Emory University's Grand Rounds in Atlanta, GA.

Presenter Biography

Clinical Director, NHGRI Chief, Section of Human Biochemical Genetics, Medical Genetics Branch, NHGRI


Massachusetts Institute of Technology      
Cambridge, Massachusetts B.S. 1972 Biochemistry
University of Wisconsin Medical School M.D. 1976 Pediatrics
University of Wisconsin Graduate School Ph.D. 1981 Oncology

Positions and Honors.

  • 1979-80 Chief Resident, Department of Pediatrics, University of Wisconsin Hospitals, Madison, WI
  • 1980-81 Postdoctoral Fellow, McArdle Labs for Cancer Research, Madison, Wisconsin
  • 1980-81 Instructor, Department of Pediatrics, University of Wisconsin Hospitals. Madison, Wisconsin
  • 1981-84 Medical Staff Fellow, Interinstitute Genetics Program, National Inst. Health, Bethesda, MD
  • 1984-86 Senior Staff Fellow, Section Hum. Biochem. Genet., Hum. Genet. Branch, NICHD, Bethesda, MD
  • 1986-95 Medical Officer, Head, Section on Human Biochemical Genetics, Human Genetics Branch, NICH
  • 1988 Acting Chief, Human Genetics Branch, NICHD
  • 1989-94 Chief, Human Genetics Branch, NICHD
  • 1995-2002 Chief, Section on Human Biochemical Genetics, Heritable Disorders, Branch, NICHD
  • 2002- Clinical Director, NHGRI; Head, Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI
  • 1983- Principal Investigator, Nine (9) NICHD/NHGRI Protocols
  • 1983- Society for Inherited Metabolic Disorders (President, 1994-5)
  • 1984- American Society of Human Genetics
  • 1985- Cystinosis Foundation National Medical Advisory Board
  • 1986- Society for Pediatric Research; Society for the Study of Inborn Errors of Metabolism
  • 1987-94; 98-01 Member, Institutional Review Board, NICHD
  • 1988- American Society for Clinical Investigation
  • 1989- American Federation for Clinical Research
  • 1989-94 Director, Interinstitute Genetics Program, NIH Clinical Center
  • 1990-92 Associate Editor, American Journal of Human Genetics
  • 1991- Editorial Board, Biochemical and Molecular Medicine/Molecular Genetics and Metabolism
  • 1993-94 Founding Fellow, American College of Medical Genetics
  • 1993- Society for Experimental Biology and Medicine
  • 2002- Board of Directors, American Board of Medical Genetics
  • 2006 Program Chair, 2006 American Society of Human Genetics Annual Meeting

Awards and Honors

  • 1983 Honorable Mention, SPR Young Investigator Award
  • 1988 Public Health Service Superior Service Award
  • 1994- The Best Doctors in America
  • 1997 Owen James Gardner Memorial Lecture, Penn State University
  • 1998 Alliance of Genetic Support Groups “Kaplan Art of Listening Award”
  • 1999 Procter & Gamble Lectureship, University of Cincinnati College of Medicine
  • 2001 Commendation, Distinguished Clinical Teacher Award, NIH Fellows
  • 2002 Distinguished Lecturer, Harvard School of Public Health
  • 2004 Association of American Physicians
  • 2007 NIH Director’s Award for Mentoring
Selected Publications by the Presenter
  • Renlund M, Tietze F, Gahl WA.  Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.  Science 232:759-62, 1986.
  • Bernar J, Tietze F, Kohn LD, Bernardini I, Harper GS, Grollman EF, Gahl WA. Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid-derived cells.J Biol Chem 261:17107-12, 1986.
  • Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA.  Cysteamine therapy for children with nephropathic cystinosis.  N Engl J Med 316:971-7, 1987.
  • Harper GS, Hascall VC, Yanagishita M, Gahl WA.  Proteoglycan synthesis in normal and Lowe syndrome fibroblasts.  J Biol Chem 262:5637-43, 1987.
  • Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Gahl WA.  Removal of corneal crystals by topical cysteamine in nephropathic cystinosis.  N Engl J Med 316:775-9, 1987.
  • Gahl WA, Bernardini I, Dalakas M, Rizzo WB, Harper GS, Hoeg JM, Hurko O, Bernar J.  Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.  J Clin Invest 81:549-60, 1988.
  • Gahl WA, Bernardini I, Finkelstein JD, Tangerman A, Martin JJ, Blom HJ, Mullen K, Mudd SH. Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency.  J Clin Invest 81:390-7, 1988.
  • Reiss RE, Kuwabara T, Smith ML, Gahl WA. Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis.  N Engl J Med 319:223-6, 1988.
  • Gahl WA, Dalakas M, Charnas L, Chen KTK, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT.  Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.  New Engl J Med 319:1461-4, 1988.
  • Tietze F, Kohn LD, Kohn AD, Bernardini I, Andersson HC, Adamson MD, Harper GS, Gahl WA.  Carrier-mediated transport of monoiodotyrosine out of thyroid cell lysosomes.  J Biol Chem 264:4762-5, 1989.
  • Tietze F, Seppala R, Renlund M, Hopwood J, Harper GS, Thomas G, Gahl WA. Defective lysosomal egress of free sialic acid in fibroblasts of patients with infantile free sialic acid storage disease.  J Biol Chem 264:15316-22, 1989.
  • Sonies B, Ekman EF, Andersson H, Adamson M, Kaler S, Markello T, Gahl WA.  Swallowing dysfunction in nephropathic cystinosis.  N Engl J Med 323:565-70, 1990.
  • Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA.  Clinical and laboratory findings in the Oculocerebrorenal Syndrome of Lowe, with special reference to growth and renal function.  N Engl J Med 324:1318-25, 1991.
  • Seppala R, Tietze F, Krasnewich D, Weiss P, Ashwell G, Barsh G, Thomas GH, Packman S, Gahl WA. Sialic acid metabolism in sialuria fibroblasts. J Biol Chem 266:7456-61, 1991.
  • Markello TC, Bernardini IM, Gahl WA.  Improved renal function in children with cystinosis treated with cysteamine.  N Engl J Med 328:1157-62, 1993.
  • Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl WA. Classical nephropathic cystinosis as an adult disease. JAMA  270:2200-4, 1993.
  • Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet 8:195-202, 1994.
  • Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I.  Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338:1258-64, 1998.
  • Anikster Y, Huizing M, White J, Bale S, Gahl WA, Toro J. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nature Genet 28:376-380, 2001.
  • Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Natural history of alkaptonuria, N Engl J Med 347:2111-2121, 2002.
  • Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SRM, 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 WA, Koizumi A. Mutations in SLC6A19, encoding BoAT1, cause Hartnup disorder. Nature Genet 36:999-1002, 2004.
  • Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, Moriyama K, Huizing M, Helip-Wooley A, Gahl WA, Webb LS, Lambert AJ, Peters LL. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood 104:3181-3189, 2004.
  • Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA. 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 MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA. Use of nitisinone in patients with alkaptonuria. Metabolism Clin Exptl 54:719-728, 2005.
  • Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park Y-M, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 controls production of pheomelanin pigment and proliferation of cultured cells. PNAS, 102:10964-10969, 2005.
  • Ueda M, O’Brien K, Rosing DR, Ling A, Kleta R, MacAreavey D, Bernardini I, Gahl WA. Coronary artery and other vascular calcifications in cystinosis patients after kidney transplantation. Clin J Am Soc Nephrol 1:555-562, 2006.
  • Galeano B, Klootwijk R, Manoli I, Sun M-S, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest 117:1585-94, 2007.
  • Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith ACM, Perry MB, Brewer C, Zalewski C, Kim J, Solomon B, Brooks BP, Gerber LH, Turner M, Domingo DL, Hart TC, Graf J, Reynolds, JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO III, Gahl WA, Introne WJ. Phenotype and course of Hutchinson-Gilford Progeria Syndrome.  N Engl J Med 358:592-604, 2008.
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