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Leslie Biesecker, MD

  • Senior Investigator, National Human Genome Research Institute, NIH
  • Associate Professor - Adjunct

Departmental Affiliations

Contact Information

National Human Genome Research Institute
49 Convent Drive, MSC 4472
Bethesda, Maryland 20892



MD, University of Illinois College of Medicine, 1983


Our research focuses on the clinical and molecular delineation of human malformation syndromes. Our goals are to improve the medical care of patients affected by these disorders; to provide generalized knowledge about the broad field of birth defects; and to understand basic mechanisms of normal and abnormal human development. Currently, we are working on two classes of disorders: classic multiple congenital anomaly syndromes and progressive overgrowth disorders. The multiple congenital anomaly syndromes include Pallister-Hall syndrome; Greig cephalopolysyndactyly syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome; and the Lenz microphthalmia syndrome. These disorders exhibit varying combinations of central nervous system malformations, visceral malformations, and polydactyly. Some have functional complications, such as mental retardation, seizures, and visual loss. We seek to describe the range of severity and long-term prognosis of these disorders through phenotypic characterization and natural history studies. Several of these disorders occur frequently in closed, Anabaptist sects, specifically the Old Order Amish and Mennonites of Lancaster County, Pennsylvania, and other regions of Ohio and Kentucky. We conduct field studies of these populations to evaluate and ascertain patients, perform computerized genealogical analysis, and develop clinical testing and treatment approaches. In the laboratory, we perform classical positional cloning studies to find the genes that cause these syndromes, determine genotype-phenotype correlations, and use animal models to investigate the pathogenetic mechanisms of these disorders.

Honors and Awards

1979 Phi Beta Kappa, University of California, Riverside 1979 Most outstanding graduate of the College of Natural and Agricultural Sciences, University of California, Riverside 1983 Alpha Omega Alpha, University of Illinois College of Medicine 1986 Best teacher award by medical school class of 1986, University of Wisconsin Hospitals and Clinics 1992 Outstanding young investigator University of Michigan Department of Pediatrics 1999 NHGRI Mentorship Award 2002 NIH Directors Award for developing the DNA testing brochure for World Trade Center victim families

  • malformations mental retardation gene mutation polydactyly
  • 1. Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Streb LM, Cornier A, Cox GF, Fulton AB, Carmi R, Luleci G, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RCM, Biesecker LG, Stone EM, Sheffield VC. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet (In press) 2. Turner C, Killoran C, Thomas NST, Rosenberg M, Chuzhanova NA, Kemel Y, Cooper DN, Biesecker LG. Human genetic disease caused by mitochondrial-nuclear DNA transfer associated with radiation exposure. Hum Genet (In press) 3. Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Mutation in the deoxynucleotide carrier DNC causes microcephaly. Nature Genet 2002 32:175-9 4. Slavotinek AM, Al-Gazali L, Hennekam RCM, Schrander-Stumpel C, Orcaña-Losa M, Pardo-Reoyo, S, Cantani A, Capellini Q, Neri G, Zackai E, Biesecker LG. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and Bardet-Biedl syndrome patients. Hum Genet 2002 110:561-7 5. Ng D, Hadley D, Tifft C, Biesecker LG. Genetic Heterogeneity of Syndromic X-Linked Recessive Microphthalmia-Anophthalmia: Is Lenz Microphthalmia a Single Disorder? Am J Med Genet 2002 110:308-14 6. Biesecker LG. Polydactyly: How many disorders and how many genes? Am J Med Genet 2002 112:279-83 7. Lublin M, Schwartzentruber DJ, Lukish J, Chester C, Biesecker LG, Newman KD. Principles for the surgical management of patients with proteus pyndrome and patients with overgrowth not meeting proteus criteria. J Pediatr Surg 2002 37(7):1013-20 8. Biesecker, LG. Greig cephalopolysyndactyly syndrome. GeneClinics 9. Slavotinek A, Biesecker, LG. Unfolding the role of chaperones in human disease. Trends Genet 2001 17(9):528-35 10. Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Marinetti M, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr., Grix A, Guttmacher A, Hudgins L, Kozma C, Michaelis R, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 2001 109:311-8 11. Frattali CM, Liow K, Craig GH, Korenman LM, Makhlouf L, Sato S, Biesecker LG, Theodore WH. Cognitive Deficits in Children with Gelastic Seizures and Hypothalamic Hamartoma. Neurology 2001 57(1):43-6 12. Galasso C, Sciré G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B. Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. Am J Med Genet 2001 99:128-31 13. Rosenthal E, Biesecker LG, Biesecker BB. Parental attitudes toward a diagnosis in children with undiagnosed multiple congenital anomaly syndrome. Am J Med Genet 2001 103(2):106-114 14. Robin NH, Biesecker LG. A Multiaxis Nomenclature System for the Medical Genetics Clinic. Genetic Med 2001 3(4):290-3 15. Biesecker, LG. Clinical Center Grand Rounds: The multifaceted challenges of Proteus syndrome. JAMA 2001 285(17):2240-3 16. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Powell BLB, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SM, Biesecker LG, Heon E, Iannacconne A, Jacobson SG, Stone EM, Sheffield VC. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Molec Genet 2001 10(8)865-74