Jennifer M. Kwon, M.D., M.P.H.

Jennifer M. Kwon, M.D., M.P.H.

Contact Information

University of Rochester Medical Center
School of Medicine and Dentistry
601 Elmwood Ave, Box 631
Rochester, NY 14642

Fax: (585) 275-3683
Office: (585) 275-2808

Professional Bio

9/81-6/86 University of Michigan, B.A. in Biomedical Sciences
9/86-6/89 University of Michigan, M.P.H., in Epidemiology
9/84-6/89 University of Michigan, M.D.

7/89-6/91 Internship and Residency in Pediatrics, Children's Hospital of Pittsburgh, PA
7/91-6/92 Residency in Neurology, Barnes Hospital, St. Louis, MO
7/92-6/96 Clinical and Research Fellowship in Pediatric Neurology,
St. Louis Children's Hospital, St. Louis, MO
7/96-6/97 Fellowship in Clinical Neuromuscle (WUSM)

Research: 1993-2003 Washington University: 1. (1993-2000) Training and work in linkage analysis and positional cloning projects in epilepsy, CMT2B, and Frontotemporal dementia in the laboratories of Drs. Paul Goodfellow and Alison Goate. 2. (2000-2003) Training and work in computational molecular biology and statistical analysis projects In Dr. Goate's laboratory to identify disease susceptibility loci for alcoholism and Alzheimer's disease. 3. (2000-2003) Collaborator on "Autism Development, Genetic Epidemiology and Treatment" NIH project.

Research Bio

I have three current research interests:
1) Newborn Screening: I was the Associate Director of the Metabolic Genetics Clinic for two years (2010-2012) overseeing newborn screening follow-up testing, treatment and management. In addition, I have been a member of the NYS Krabbe Consortium, a group that has attempted to guide newborn screening followup efforts in NYS and will be part of the newborn screening follow-up group when NYS implements Adrenoleukodystrophy NBS in January, 2014. My major research focus has been to evaluate outcomes in current newborn screening programs with the goal of making policy changes for more effective patient management.

2) Epilepsy QI and Outreach to Underserved Populations: For the past two years, I have served as a consultant in a HRSA sponsored learning collaborative training project for multiple state grantees for improving healthcare quality and access for children and youth with epilepsy. Our child neurology division draws from all counties in Upstate New York because of the relative lack of child neurology services in Syracuse and Albany. The distance many of our families travel has been troubling to me and I have been involved in projects to improve access to epilepsy services.
3) Batten Disease: Since 2004, I have collaborating with Dr. Jonathan Mink to develop the Batten Disease Research and Diagnostic Center. I have been evaluating Batten disease subjects prospectively to refine the Unified Batten Disease Rating Scale (UBDRS) as a tool for use in upcoming clinical trials of Batten Disease. Recently, I have been serving as the Medical Monitor for the JUMP trial, a clinical safety trial of mycophenylate use in patients with juvenile Batten Disease.

Awards & Honors (Local)

Alzheimer Research Forum Award of Merit | Alzheimer's Association 2001
Frank E. Robbins Award | University of Michigan Medical School 1989
Klare Memorial Scholarship | University of Michigan School of Public Health 1986 - 1987
Avery Hopwood Awards, Underclassman Essay and Fiction | University of Michigan 1983

Recent Journal Articles

Showing the 5 most recent journal articles. 41 available »

2013 Nov
Kwon JM, D'Aco KE. "Clinical neurogenetics: neurologic presentations of metabolic disorders." Neurologic clinics. 2013 Nov; 31(4):1031-50. Epub 2013 Aug 08.
2013 Jul
de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW, . "Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates." Contemporary clinical trials. 2013 Jul; 35(2):48-54. Epub 2013 Apr 26.
Dees, R.; Kwon, J. M. "The ethics of Krabbe newborn screening". Public Health Ethics. 2013; 6: 114-128.
2012 May
Cialone J, Adams H, Augustine EF, Marshall FJ, Kwon JM, Newhouse N, Vierhile A, Levy E, Dure LS, Rose KR, Ramirez-Montealegre D, de Blieck EA, Mink JW. "Females experience a more severe disease course in Batten disease." Journal of inherited metabolic disease. 2012 May; 35(3):549-55. Epub 2011 Dec 14.
Guillet, R.; Kwon, J. M.; Chen, S.; McDermott, M. P. "Urine phenobarbital drug screening: potential use for compliance assessment in neonates". J Child Neurol. 2012; 27: 200-203.

Current Appointments

Associate Professor - Department of Neurology, Child Neurology (SMD) - Primary
Associate Professor - Department of Pathology and Laboratory Medicine (SMD)
Associate Professor - Department of Pediatrics (SMD)


Neurology with Special Qualifications in Child Neurology - American Board of Psychiatry and Neurology


MD | Medicine | Univ of Michigan Medical Sch1989
MPH | Public Health | University of Michigan1989
BA | Biomedical Sciences | University of Michigan1986

Post-Doctoral Training & Residency

Fellowship in Child Neurology at St. Louis Children s Hospital07/01/1992 - 6-30-1996
Residency in Neurology at Barnes Hospital07/01/1991 - 6-30-1992
Residency in Neurology at Children's Hospital of Pittsburgh06/30/1990 - 6-30-1991
Internship in Pediatrics at Children's Hospital of Pittsburgh07/01/1989 - 6-30-1990