Jonathan S. Berg, MD, PhD

Jonathan S. Berg

Associate Professor


Research Interests

Key words:  Medical Genetics, Clinical Cancer Genetics, Personalized Medicine

I recently joined the Cancer Genetics Clinic at UNC after completing the four year residency program in Clinical Genetics at Baylor College of Medicine in Houston, TX. This unique four-year program was aimed at providing training broadly across all facets of Clinical Genetics and I thus have equal experience in both Pediatric and Adult genetics. In the Cancer Genetics Clinic I will be primarily involved in the evaluation of individuals with a strong family history of cancer. The goal is to  identify the primary genetic etiology for their  cancer susceptibility and provide additional information that will help guide the management of the disease.

My current research interests involve the clinical translation of modern genetic diagnostic technologies to improve patient care. Cancer is an ideal model system for this goal, since cancer is quite prevalent as a whole and there are clearly genetic underpinnings to most types of cancer (despite the rarity of true familial cancer syndromes). At UNC, I will be assuming the position of Principal Investigator for the Carolina-Georgia Center of the Cancer Genetics Network funded by the National Cancer Institute, a multicenter study aimed at developing a registry of cancer patients and their family members in order to facilitate scientific investigations. I am also interested in extending my earlier interest in copy number variation to examine whether rare and/or common structural variants might play a role in predisposition to cancer.

In addition to cancer-related interests, I hope to pursue additional lines of clinical/translational investigation into the use of diagnostic and predictive testing in adult medicine subspecialties, with the primary goal of determining the clinical utility and cost-benefit ratio of predictive genetic testing in order to ensure that this technology is used in an evidence-based fashion.


Berg JS, Goodell MA (2008). An argument against a role for Oct4 in somatic stem cells. Cell Stem Cell 1(4):359-60.

Brunetti-Pierri N*, Berg JS*, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, and Patel A (2008). Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40(12):1466-71. * Equal contributors

Ou Z*, Berg JS*, Yonath H*, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault CA, Lupski JR, Cheung SW, Roeder E, and Patel A (2008). Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10(4):267-277. * Equal contributors

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A (2008). 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome. Am J Hum Genet 82:214–221.

Berg JS*, Brunetti-Pierri N*, Peters SU, Kang SL, Fong C, Salamone J, Freedenberg D, Hannig VL, Prock L, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW (2007). Speech delay and autism-spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 9(7):427-441. * Equal contributors

Smyk M*, Berg JS*, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, and Stankiewicz P (2007). Male-to-female sex reversal due to an ~250 Kb deletion upstream of NR0B1 (DAX1). Hum Genet 122(1):63-70. * Equal contributors

Berg JS, French SL, McCullough LB, Kleppe S, Sutton VR, Gunn SK, and Karaviti LP (2007). Ethical and Legal Implications of Genetic Testing in Androgen Insensitivity Syndrome. J Pediatr 150(4):434-8.

Thimgan MS, Berg JS, and Stuart AE (2006). Comparative sequence analysis and tissue localization of members of the SLC6 family of transporters in adult Drosophila melanogaster. J Exp Biol 209(Pt 17):3383-3404.

Sousa A, Berg JS, Robertson BW, Meeker RB and Cheney RE (2006). Myo10 in brain: developmental regulation, identification of a headless isoform and dynamics in neurons. J Cell Sci 119(Pt 1):184-194.

Weber KL, Sokac AM, Berg JS, Cheney RE, and Bement WM (2004). A microtubule-binding myosin required for nuclear anchoring and spindle assembly. Nature 431, 325-329.

Zhang H, Berg JS, Li Z, Wang Y, Lang P, Sousa AD, Bhaskar A, Cheney RE, Stromblad S (2004). Myosin-X provides a motor-based link between integrins and the cytoskeleton. Nat Cell Biol 6(6), 523-31.

Berg JS and Cheney RE (2002). Myosin-X is an unconventional myosin that undergoes intrafilopodial motility. Nat Cell Biol 4(3), 246-50.

Cox D, Berg JS, Cammer M, Chinegwundoh JO, Dale BM, Cheney RE, and Greenberg S (2002). Myosin-X as a downstream effector of PI 3-kinase during phagocytosis. Nat Cell Biol 4(7), 469-477.

Gillespie PG, Albanesi JP, Bahler M, Bement WM, Berg JS, et al. (2001) Myosin-I nomenclature. J Cell Biol 155(5), 703-4.

Berg JS, Powell BC, and Cheney RE (2001). A millennial myosin census. Mol Biol Cell 12, 780-794.

Berg JS, Derfler BH, Pennisi CM, Corey DP, and Cheney RE (2000). Myosin-X, a novel myosin with pleckstrin homology domains, associates with regions of dynamic actin. J Cell Sci 113, 3439-3451.

Berg JS and Farel PB (2000). Developmental regulation of sensory neuron number and limb innervation in the mouse. Brain Res Dev Brain Res 125, 21-30.

Oliver TN, Berg JS, and Cheney RE (1999). Tails of unconventional myosins. Cell Mol Life Sci 56, 243-57.

Jonathan S. Berg