Dr. Fuki M. Hisama

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Yale University
School of Medicine
Neurology
Associate Professor
Professional Headshot of Fuki M. Hisama

Mailing Address

P.O. Box 208018
Yale University
New Haven, Connecticut 06520-8018
United States

Contact Information

fuki.hisama@yale.edu

Qualifications

M.D., University of Chicago, Medicine, 1988.
Board Certified, Genetics.
Board Certified, Yale University, Neurology.

Expertise and Research Interests

Werner's Syndrome, WS, is a rare autosomal recessive disorder which resembles premature aging and may provide an important model of senescence in humans. WS results in the early development of diabetes, cataracts, atherosclerosis, neoplasms and osteoporosis.Thus, understanding the function of the gene for WS may provide important insights into the mechanism of aging. The WRN gene is a member of the family of RecQ DNA helicases, and is targeted to the nucleus. WS fibroblasts are hypersensitive to the DNA damaging effects of 4-Nitroquinoline 1-oxide, and we demonstrated that the effect can be partially reversed by introducing either a normal WRN gene or another gene, telomerse, into the cells. These studies may offer new insights into the critical regulatorysteps of aging at the cellular level.

Other Expertise

Neurogenetics: I am the director of a tertiary referral clinic for the evaluation of adult patients with complex neurological disorders with a genetic basis. The evaluation includes the use of specialized clinical genetic testing, as well as participation in genetic research studies at the patient's request.

Keywords

COS Keywords:

Complementary DNA, DNA, Epilepsy, Gene Expression, Genetic Diseases, Gerontology, Human Genome, Medical Genetics, Molecular Cloning, Neurology, Nucleic Acid Hybridization, Polymerase Chain Reaction.

Additional Terms:

Complementary DNA, Epilepsy, Gene Expression, Gene Mutation, Genetic Library, Human Genetic Material Tag, Molecular Cloning, Nucleic Acid Hybridization, Polymerase Chain Reaction, Restriction Mapping, Single Strand Conformation Polymorphism, Werner's Syndrome.

Memberships

American Academy of Neurology
American Society of Human Genetics

Honors and Awards

2000-2003, Paul Beeson Physician Faculty Scholar Award, American Federation for Aging Research, Aging
1991-1992, Chief Resident in Neurology, Department of Neurology, Yale University

Funding Received

  • American Federation for Aging Research: Paul Beeson Faculty Scholar Award, $450,000, Jul 1, 2000 to Jun 30, 2005.
  • Hellman Family Foundation: The Relationship between the Werner gene and Telomerase, $20,000, 1999 to 2000.
  • National Institutes of Health (NIH): Positional Cloning of the Werner Syndrome Gene, $353,360, 1995 to 2000.

Publications

  • Hisama FM, Mancuso M, Filosto M, DiMauro S, Progressive External Ophthalmoplegia: a New Family With Tremor And Peripheral Neuropathy., American Journal of Medical Genetics. Part a, 135(2), 217-9, Jun 2005 Abstract
  • Drazinic CM, Ercan-Sencicek AG, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW, Rapid Array-based Genomic Characterization of a Subtle Structural Abnormality: a Patient With Psychosis and Der(18)t(5;18)(p14.1;p11.23)., American Journal of Medical Genetics. Part a, 134(3), 282-9, Apr 2005 Abstract
  • Hisama FM, Familial Periodic Paralysis and Charcot-Marie-Tooth Disease in A 7-generation Family., Archives of Neurology, 62(1), 135-8, Jan 2005 Abstract
  • Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM, Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features, Neurology, 60(10), 1687-90, May 2003 Abstract
  • Hisama FM, Lee HH, Vashlishan A, Tekumalla P, Russell DS, Auld E, Goldstein JM, Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system, Archives of Neurology, 58(11), 1891-6, November 2001 Abstract
  • Hisama FM, Mattson RH, Lee HH, Felice K, Petroff OA, GABA and the ornithine delta-aminotransferase gene in vigabatrin-associated visual field defects, Seizure : the Journal of the British Epilepsy Association, 10(7), 505-7, October 2001 Abstract
  • Hisama FM, Gruen JR, Choi J, Huseinovic M, Grigorenko EL, Pauls D, Mattson RH, Gelernter J, Wood FB, Goei VL, Human GABA(B) receptor 1 gene: eight novel sequence variants, Human Mutation, 17(4), 349-50, April 2001 Abstract
  • Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR, 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters, American Journal of Medical Genetics, 98(2), 121-4, Jan 2001 Abstract
  • Hisama, Chen, Meyn, Oshima, Weissman, WRN or Telomerase Constructs Reverse 4-Nitroquinoline 1-oxide Sensitivity in Transformed Werner Syndrome Fibroblasts, Cancer Research, 60, 2372-2376, 01 May 2000
  • Hisama FM, Reyes-Mugica M, Wargowski DS, Thompson KJ, Mahoney MJ, Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome., American Journal of Medical Genetics, 80(4), 335-42, 4 Dec 1998 Abstract
  • Hisama FM, Reyes-Mugica M, Wargowski DS, Thompson KJ, Mahoney MJ, Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome, American Journal of Medical Genetics, 80(4), 335-42, December 1998 Abstract
  • Hisama FM, Oshima J, Yu CE, Fu YH, Mulligan J, Weissman SM, Schellenberg GD, Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region, Genomics, 52(3), 342-51, September 1998 Abstract
  • Sharma V, Poorkaj P, Hisama F, Bonnycastle L, Yu CE, Massa H, Trask B, Clancy KP, Patterson D, Weissman SM, Schellenberg GD, An expression map from human chromosome 14q24.3, Genomics, 47(2), 314-8, Jan 1998 Abstract
  • Yu CE, Oshima J, Hisama FM, Matthews S, Trask BJ, Schellenberg GD, A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21, Genomics, 35(3), 431-40, August 1996 Abstract
  • Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD, Positional cloning of the Werner's syndrome gene, Science, 272(5259), 258-62, April 1996 Abstract

Profile Details

Last Updated: 7/29/2005

COS Expertise ID #536560
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