Jennifer Friedman 

Jennifer R. Friedman 

Clinical Professor

 

Contact Information

8010 Frost Street, Suite 400
San Diego, CA 92123

Email: jrfriedman@rchsd.org
Phone: 858-966-5819

Mailing Address:
9500 Gilman Drive # 0984
La Jolla, CA 92093-0984


Dr. Friedman is an expert in adult and pediatric movement disorders and has particular interest in genetic and metabolic disorders that affect movement. She directs the Movement Disorders and Tourette/Tic Disorder Clinics at Rady Children’s Hospital and does research in the areas of neurogenetics, Tourette’s Syndrome and disability awareness education. In addition, she teaches medical students residents, fellows, and undergraduate students.

Dr. Friedman received her undergraduate training at Princeton University and earned her MD from Stanford University in 1991. She completed an internship in internal medicine at Santa Clara Valley Medical Center followed by residency in neurology at Harvard Longwood Training Program. She was a clinical fellow in movement disorders at Boston University Medical Center and a clinical and research fellow in neurogenetics and dystonia at Massachusetts General Hospital.

She served as a neurologist at several Boston hospitals and was an instructor in neurology at Harvard Medical School before joining Rady Children’s Hospital in San Diego as senior staff neurologist in 2004.

Dr. Friedman also serves as associate clinical professor in the UC San Diego Departments of Neurosciences and Pediatrics. Dr. Friedman is a diplomate of the American Board of Psychiatry and Neurology. She is a member of the American Academy of Neurology, the Movement Disorder Society, the Tourette Syndrome Association, and the Phi Beta Kappa National Honor Society.

 
Dr. Friedman developed and runs the Rady Children’s Hospital Movement Disorder and Tic/Tourette’s Clinic and is the only pediatric movement disorders specialist in San Diego. Dr. Friedman treats patients with a wide range of movement disorders including: tics/Tourette, dystonia, myoclonus, chorea, stereotypy, tremor, ataxia, periodic paralysis, paroxysmal dyskinesia, restless legs, and hyperekplexia. She is an expert on neurogenetic disorders and disorders of neurotransmitter synthesis and consults on cases throughout California, nationally and internationally.
Dr. Friedman’s research interests include neuro-metabolic and genetic disorders that affect movement. She has particular interest in efforts to better understand and treat pediatric neurotransmitter disorders. She recently directed an international collaboration to characterize sepiapterin reductase deficiency, a form of dopa-responsive dystonia and participated in research efforts involving the use of fMRI to better understand the brain mechanisms that underlie behavioral therapy for tics (CBIT). She conducts research involving the use of exome sequencing to diagnose rare disease. She also conducts research and training on disability awareness education (see service below)
Dr Friedman is a strong proponent of education of children to improve understanding of and tolerance toward those with disabilities. In 2005, in partnership with the Del Mar Heights Elementary School, Dr. Friedman developed the Understanding Differences program a curriculum designed to teach K-6 children tolerance through a basic understanding of the biology of disease and disability and environmentally related factors that affect health and wellness. Dr. Friedman continues to run this program which has been awarded the 2008-2009 Program Award of Excellence award from the North Coastal County PTA as well as the 2010 California School Board Golden Bell Award.
2011

Volunteer of the Year Award, Del Mar Heights, Del Mar Union School District

2011

First Place/Gold -15th International Congress of Parkinson’s Disease and Movement Disorders -  VO Games Patient Presentation (Toronto)

2010

SciFri Teaching Award, Del Mar Heights PTA

2010

California School Board Golden Bell Award – Understanding Differences Program

2003 Nathaniel Bowditch Award (nomination)
2003 Dystonia Medical Research Foundation Research Grant Partners in Excellence Award
1992 Medical Scholars Program
Stanford University
1986 Elected Phi Beta Kappa
Princeton University
1986 Graduated Summa cum Laude
Princeton University
1982 National Merit Scholar
 

1. Powell, MB, Mitchell, D. Lederman, J. Buckmeier, J., Zambil, SS, Graham, M. Riddle, NH, Steinman, L. Lymphotoxin and tumor necrosis factor-alpha production by myelin basic protein-specific T cell clones correlates with encephalitogenicity. Int. Immnol. 1990;2(6):539-544.

2. Friedman, J. Weissman, I, Friedman, J, Alpert, S. An analysis of the expression of cyclophilin C reveals tissue restriction and an intriguing pattern in the mouse kidney. Am.J. Pathol. 1994 Jun; 144(6): 1247-56

3. Klein C, Friedman J, Bressman S, et al. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genetic Testing 1999; 3:323-328.

4. Klein, C., Gurvich, N. Sena-Esteves, S., Bressman, S. Brin, M. Camp, S.M., Ebersole, B.J., Fink, S. Forsgren, L., Friedman, J., Grimes, D., Holmgren, G., Kyllerman, M., Lang, A. de Leon, D. Leung, J. Prioleau, C. Raymond, D. Sanner, G. Saunders-Pullman, R. Schilling, K., Vieregge, P., Wahlstrom, J., Breakefield, X.O., Kramer, P.L., Ozelius, L.J., Sealfon, S.C. Evaluation of the role of the D2 dopamine receptor in myoclonus-dystonia. Annals of Neurology, 2000;15(2) 201- 211.

5. Friedman, J.R.L., Klein, C., Leung, J., Woodward, H. Ozelius, L.J., Breakefield, X.O., Charness, M.E.. The GAG Deletion of the DYT1 Gene is Infrequent in Musicians with Focal Dystonia.. Neurology 2000, 55 (9): 1417-1418.

6. Klein, C., Schilling, K., Saunders-Pullman, R.J., Garrels, J., Breakefield, X.O., Brin, M.F., deLeon, D., Doheny, D., Fahn, S., Fink, S. Forsgren, L., Friedman, J., Frucht, S., Harris, J., Holmgren, G., Kis, B., Kurlan, R., Kyllerman, M., Lang, A.E., Leung, J., Raymand, D., Robishaw, J.D., Sanner, G., Schwinger, E., Tabamo, R.E., Tagliati, M., Bieregge, P., Wahlstrom, J., Wendt, K.J., Kramer, P., Bressman, S.B., Ozelius, L. A major locus for myoclonus-dystonia maps to chromosome 7q in eight families American Journal of Human Genetics, 2000: 67(5).

7. Leung, J.C., Klein, C., Friedman, J., Vieregge, P., Jacobs, H., Doheny, D., Kamm, C., DeLeon, D., Pramstaller, P.P., Penney, J.B., Eisengart, M., Jankovic, J., Gasser, T., Bressman, S.B., Corey, D.P., Kramer, P., Brin, M.F., Ozelius, L.J., Breakefield, X.O. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.. Neurogenetics, 2001, 3:133.

8. Opal, P., Tintner, R., Jankovic, J., Leung, J., Breakefield, X.O., Friedman, J., and Ozelius, L., Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm. Mov. Disord. 2002 Mar; 17(2):339-45.

9. Comella, C., Leurgans, S., Wu, J., Stebbins, G., Chmura, T., and The Dystonia Study Group. Rating scales for dystonia: A multicenter assessment of three dystonia rating scales: The Unified Dystonia Rating Scale, the Fahn Marsden Rating Scale, and the Global Dystonia Rating Scale. Mov. Disord, 2003, 18:303-312.

10. Tawakol, A., Sims, K., McRae, C., Friedman, J., Alpert, N., Fischman, A., Gewirtz, H. Myocardial Flow Regulation in Humans with MELAS/MERRF and other Mitochondrial Syndromes. Coronary Artery Disease, 2003 14:197-205.

11. Simon, D.K., Friedman, J., Breakefield, X.O., Brin, M.F., Provias, J., Bressman, S.B., Jankovic, J., Charness, M.E., Tarsy, D., Johns, D.R., Tarnopolsky, M.A. A Heteroplasmic Mitochondrial Complex I gene Mutation in Adult-Onset Dystonia. Neurogenetics, 2003 4:199-205.

12. Kabakci, K. Hedrich, K., Chung-on Leung, J., Mitterer, M., Vieregge, P., Lencer, R., Hagenahl, J., Garrels, J., Witt, K, Klostermann, F., Svetel, M., Friedman, J., Kostic, V., Bressman, S.B., Breakefield, X.O., Ozelius, L.J., Pramstaller, P.P. Klein, C. Mutations in DYT1: Extension of the phenotypic and mutational spectrum. Neurology 2004 62:395-400.

13. Friedman, J.R., Thiele, E.A., Wang, D, Levine, K.B., Cloherty, E.K, Pfeifer, H., DeVivo, D.C., Carruthers, A. Natowicz, M Atypical GLUT1 Deficiency with Prominent Movement Disorder Responsive to Ketogenic Diet. Movement Disorders, 2006 Feb;21(2):241-5.

14. Friedman, J., Hyland, K., Blau, N., MacCollin, M. Dopa-Responsive Hypersomnia and Mixed Movement Disorder due to Sepiapterin Reductase Deficiency. Neurology, 2006 Dec 12; 67(11) 2032-5.

15. Papapetropoulos, S., Friedman, J., Blackstone, C., Singer, C., Progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy. Mov Disord, 2007 Aug 15; 22(11): 1664-6.

16. Raymond, D., Saunders-Pullman, R, de Carvalho Aguiar, P., Schule, B., Kock, N., Friedman, J, Harris, J, Ford, B., Frucht, S., Heiman, G, Jennings, D., Doheny, D., Brin, M., de Leon, D., Multhaupt Buell, T., Lang, A., Kurlan, R., Klein, C., Ozelius, L., Bressman, S. Phenotypic spectrum and sex effects in eleven M-D families with SGCE mutations. Mov. Disord. 2008 Mar 23(4): 588-592.

17. Bainbridge M.N., Wiszniewski, W., Murdock D.R., Friedman J., Gonzaga-Jauregui C., Newsham I., Reid J.G., Fink J.K., Morgan M.B., Gingras, M.C., Muzny D.M., Hoang L.D., Yousaf S., Lupski J.R., and Gibbs R.A. Whole Genome Sequencing for Optimized Patient Management. Science Translational Medicine, 2011 Jun 15;3(87):87re3.

18. Friedman, J., Roze, E., Abdenur, J.E., Chang, R., Gasperini, S., Salett, V., Wali, G.M., Eiroa, H.E., Neville, B., Felice, A., Parascandalo, R., Zafeiriou, D.I., Arrabal-Fernandez, L., Dill, P., Eichler, F.S., Echenne, B., Gutierrez-Solana, L.G., Hoffmann, G.F., Hyland, K., Kusmierska, K., Tijssen, M.A.J., Lutz, T., Mazzuca, M., Penzien, J., Poll-The, B.T., Sykut-Cegielska, J., Szymanska, K., Thony, B., Blau, N., Sepiapterin Reductase Deficiency: a treatable mimic of cerebral palsy. Annals of Neurology, 2012 Apr;71(4):520-30.

19. Friedman, J., Olvera, Silhavy, J.L., Gabriel, S.B., Gleeson, J.G. Mild Paroxyamsl Kinesigenic Dyskinesia Caused by PRRT2 Missense Mutation with Reduced Penetrance. Neurology, 2012 Aug 28;79(9):946-8.

20. Crawford, John; Newbury, Robert; Friedman, Jennifer. An Unusual Presentation of Posterior Fossa Ependymoma in a Child. British Medical Journal – Case Reports, Jul 5;2013. doi: 10.1136/bcr-2013-010267

21. Chen*, Ying-Zhang; Friedman*, Jennifer R.; Chen*, Dong-Hui; Chan Guy C. K.; Bloss, Cinnamon S.; Hisama, Fuki M; Topol, Sarah E. Carson, Andrew R.; Pham, Phillip H.; Bonkowski, Emily S.; Scott, Eric R.; Lee, Janel K.; Zhang, Guangfa; Oliveira, Glenn; Xu, Jian; Scott-Van Zeeland, Ashley A.; Chen, Qi; Levy, Samuel; Topol, Eric J.; Storm, Daniel; Swanson, Phillip D.; Bird, Thomas D.; Schork, Nicholas J.; Raskind, Wendy H.; Torkamani, Ali. Gain-of-Function ADCY5 Mutations Cause Familial Dyskinesia with Facial Myokymia (Annals of Neurology in press) (*these authors contributed equally)