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Home > Doctors > Robert L. Nussbaum

Robert L. Nussbaum, M.D.

Medical geneticist

Dr. Robert L. Nussbaum, a board certified internist and medical geneticist, specializes in the care of adults with hereditary disorders. He is chief of Medical Genetics at UCSF Medical Center and co-director of the Program in Cardiovascular Genetics at the UCSF Heart and Vascular Center, which cares for patients with inherited disorders of heart muscle, heart rhythm and large arteries, such as the aorta.

Nussbaum is a member of the UCSF Institute for Human Genetics, where he is studying if and how genetic and genomic information can be used to improve health care by improving outcomes, reducing adverse reactions, lowering costs and promoting health through risk education. He also conducts research on Parkinson disease to understand what causes the disorder and develop treatments to prevent, slow or stop its progression. Nussbaum, a member of the Institute of Medicine, was co-discoverer of the first inherited form of Parkinson's disease. He has since been working to identify other inherited forms of the disease through family studies. Although inherited forms of the disease are rare, the mechanisms of hereditary can provide insight in processes that may be involved in more common forms. Prior to joining UCSF, Nussbaum was chief of the Genetic Disease Research Branch of the National Human Genome Research Institute, one of the National Institutes of Health.

Clinics

Cardiovascular Genetics Program
400 Parnassus Avenue, Plaza Level, Room 94
San Francisco, CA 94143
Phone: (415) 353-2873
Fax: (415) 476-5355

Hours: Monday
noon – 4 p.m

General Genetics Clinic
400 Parnassus Ave., Second Floor
San Francisco, CA 94143
Phone: (415) 476-2757
Fax: (415) 476-9305

Hours: Tuesday and Thursday mornings (except first Tuesday of the month which is an all-day clinic)

Neurometabolic Clinic
400 Parnassus Ave., 2nd Floor
San Francisco, CA 94143-0748
Phone: (415) 476-9997
Fax: (415) 476-9976

Hours: Monday to Friday
8 a.m. – 5 p.m.

Cancer Risk Program
1600 Divisadero St., Second Floor
San Francisco, CA 94143-1714
Phone: (415) 885-7779
Fax: (415) 885-3787

Hours: Monday to Friday
9 a.m. – 5 p.m.

Conditions & Treatments

More about Robert L. Nussbaum

Additional Languages

French

Education

Harvard Medical School 1975

Residencies

Barnes-Jewish Hospital, Internal Medicine 1978

Fellowships

Baylor College of Medicine, Medical Genetics 1981

Selected Research and Publications

  1. Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N. Characterization and Mechanisms of Action of Novel NaV1.5 Channel Mutations Associated With Brugada Syndrome. Circ Arrhythm Electrophysiol. 2013 Feb 1; 6(1):177-84.
  2. Fanara P, Wong PY, Husted KH, Liu S, Liu VM, Kohlstaedt LA, Riiff T, Protasio JC, Boban D, Killion S, Killian M, Epling L, Sinclair E, Peterson J, Price RW, Cabin DE, Nussbaum RL, Brühmann J, Brandt R, Christine CW, Aminoff MJ, Hellerstein MK. Cerebrospinal fluid-based kinetic biomarkers of axonal transport in monitoring neurodegeneration. J Clin Invest. 2012 Sep 4; 122(9):3159-69.
  3. Mollenhauer B, Trautmann E, Otte B, Ng J, Spreer A, Lange P, Sixel-Döring F, Hakimi M, Vonsattel JP, Nussbaum R, Trenkwalder C, Schlossmacher MG. a-Synuclein in human cerebrospinal fluid is principally derived from neurons of the central nervous system. J Neural Transm. 2012 Jul; 119(7):739-46.
  4. Nussbaum RL. Critique of "Evidence-Based Surgical Hypothesis: The case against BRCA1 and 2 testing". Surgery. 2012 Apr; 151(4):634-7.
  5. Bolton KL, Chenevix-Trench G, Goh C, Sadetzki S, Ramus SJ, Karlan BY, Lambrechts D, Despierre E, Barrowdale D, McGuffog L, Healey S, Easton DF, Sinilnikova O, Benítez J, García MJ, Neuhausen S, Gail MH, Hartge P, Peock S, Frost D, Evans DG, Eeles R, Godwin AK, Daly MB, Kwong A, Ma ES, Lázaro C, Blanco I, Montagna M, D'Andrea E, Nicoletto MO, Johnatty SE, Kjær SK, Jensen A, Høgdall E, Goode EL, Fridley BL, Loud JT, Greene MH, Mai PL, Chetrit A, Lubin F, Hirsh-Yechezkel G, Glendon G, Andrulis IL, Toland AE, Senter L, Gore ME, Gourley C, Michie CO, Song H, Tyrer J, Whittemore AS, McGuire V, Sieh W, Kristoffersson U, Olsson H, Borg Å, Levine DA, Steele L, Beattie MS, Chan S, Nussbaum RL, Moysich KB, Gross J, Cass I, Walsh C, Li AJ, Leuchter R, Gordon O, Garcia-Closas M, Gayther SA, Chanock SJ, Antoniou AC, Pharoah PD. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA. 2012 Jan 25; 307(4):382-90.
  6. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Spurdle A, Robson M, Sherman M, Mulligan AM, Couch FJ, Engel C, McGuffog L, Healey S, Sinilnikova OM, Southey MC, Terry MB, Goldgar D, O'Malley F, John EM, Janavicius R, Tihomirova L, Hansen TV, Nielsen FC, Osorio A, Stavropoulou A, Benítez J, Manoukian S, Peissel B, Barile M, Volorio S, Pasini B, Dolcetti R, Putignano AL, Ottini L, Radice P, Hamann U, Rashid MU, Hogervorst FB, Kriege M, van der Luijt RB. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012 Jan; 21(1):134-47.
  7. Caleshu C, Sakhuja R, Nussbaum RL, Schiller NB, Ursell PC, Eng C, De Marco T, McGlothlin D, Burchard EG, Rame JE. Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. Am J Med Genet A. 2011 Sep; 155A(9):2229-35.
  8. Markello TC, St Hilaire C, Ziegler SG, Nussbaum RL, Boehm M, Gahl WA. Reply to Professor Lefthériotis et al. Mol Genet Metab. 2011 Jul; 103(3):305.
  9. Nakamura K, Nemani VM, Azarbal F, Skibinski G, Levy JM, Egami K, Munishkina L, Zhang J, Gardner B, Wakabayashi J, Sesaki H, Cheng Y, Finkbeiner S, Nussbaum RL, Masliah E, Edwards RH. Direct membrane association drives mitochondrial fission by the Parkinson disease-associated protein alpha-synuclein. J Biol Chem. 2011 Jun 10; 286(23):20710-26.
  10. Markello TC, Pak LK, St Hilaire C, Dorward H, Ziegler SG, Chen MY, Chaganti K, Nussbaum RL, Boehm M, Gahl WA. Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab. 2011 May; 103(1):44-50.
  11. St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M. NT5E mutations and arterial calcifications. N Engl J Med. 2011 Feb 3; 364(5):432-42.
  12. Bale S, Devisscher M, Van Criekinge W, Rehm HL, Decouttere F, Nussbaum R, Dunnen JT, Willems P. MutaDATABASE: a centralized and standardized DNA variation database. Nat Biotechnol. 2011 Feb; 29(2):117-8.
  13. Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy. J Am Soc Nephrol. 2011 Mar; 22(3):443-8.
  14. Bothwell SP, Farber LW, Hoagland A, Nussbaum RL. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome. Mamm Genome. 2010 Oct; 21(9-10):458-66.
  15. Sung RK, Ursell PC, Rame JE, Bailey H, Caleshu C, Nussbaum RL, Scheinman MM. QTc prolongation and family history of sudden death in a patient with desmin cardiomyopathy. Pacing Clin Electrophysiol. 2011 Dec; 34(12):e105-8.
  16. Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010 May; 8(5):562-94.
  17. Corpe CP, Tu H, Eck P, Wang J, Faulhaber-Walter R, Schnermann J, Margolis S, Padayatty S, Sun H, Wang Y, Nussbaum RL, Espey MG, Levine M. Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice. J Clin Invest. 2010 Apr; 120(4):1069-83.
  18. Bernard DJ, Nussbaum RL. X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice. Mamm Genome. 2010 Apr; 21(3-4):186-94.
  19. Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL. Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes. Hum Mol Genet. 2010 May 1; 19(9):1633-50.
  20. Ikediobi ON, Shin J, Nussbaum RL, Phillips KA. Addressing the challenges of the clinical application of pharmacogenetic testing. Clin Pharmacol Ther. 2009 Jul; 86(1):28-31.

Publications are derived from MEDLINE/PubMed and provided by UCSF Profiles, a service of the Clinical & Translational Science Institute (CTSI) at UCSF. Researchers can make corrections and additions by logging on to UCSF Profiles.

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