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. 54 available »

2016 Aug
Kwon JM, Abdel-Hamid HZ, Al-Zaidy SA, Mendell JR, Kennedy A, Kinnett K, Cwik VA, Street N, Bolen J, Day JW, Connolly AM. "Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal." Muscle & nerve. 2016 Aug; 54(2):186-91. Epub 2016 Jun 13.
2016 Jun 23
Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, Kwon JM, Lam WK, Ojodu J, Prosser LA, Tanksley S. "Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation." Genetics in medicine : official journal of the American College of Medical Genetics. 2016 Jun 23; Epub 2016 Jun 23.
2016 May 12
Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. "Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State." Genetics in medicine : official journal of the American College of Medical Genetics. 2016 May 12; Epub 2016 May 12.
2016 Mar
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M. "Newborn screening for Krabbe disease in New York State: the first eight years' experience." Genetics in medicine : official journal of the American College of Medical Genetics. 2016 Mar; 18(3):239-48. Epub 2016 Jan 21.
2016 Jan
Gatheridge MA, Kwon JM, Mendell JM, Scheuerbrandt G, Moat SJ, Eyskens F, Rockman-Greenberg C, Drousiotou A, Griggs RC. "Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review." JAMA neurology. 2016 Jan; 73(1):111-6.

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