Jun Li, MD, PhD

Jun Li, MD, PhD

junli@med.wayne.edu

Clinic Appointments: (313) 745-4275

(313) 745-4216 (fax)

Jun Li, MD, PhD

Narrative Bio

Dr. Jun Li is a tenured Professor and the current Chair of the Department of Neurology at Wayne State University School of Medicine. He is also the Scientific Director of Translational Neuroscience Initiative of this University and the Neurologist-in-Chief of the Detroit Medical Center. He was recruited to the Department of Neurology at Wayne State University in 2000; and relocated to Vanderbilt University in 2009 where he served as a tenured Professor of Neurology for 9 years. In March 2018, Dr. Li returned to Wayne State University to serve as the Chair of the Department of Neurology.

Dr. Li subspecializes in inherited peripheral nerve diseases and myelin biology. As a physician scientist, Dr. Li was a recipient of the NIH K08 award in 2004. His laboratory is currently funded by the NIH, the Department of Veterans Affairs, the DMC foundation, and the Muscular Dystrophy Association. With these supports, his laboratory has been highly productive (a total of 93 articles in peer-reviewed journals; he served as the first or last author in a majority of them). He has been invited to give numerous talks nationally and internationally. In 2014, he received the Wolfe Research Prize from the American Neurological Association (ANA). He is also a current member on the ANA Board of Directors. Dr. Li has served as a member of the Scientific Advisory Board for the Muscular Dystrophy Association, Charcot-Marie-Tooth Association, and the scientific committee of Peripheral Nerve Society. He has been a reviewer for NIH study sections and VA study sections for more than a decade.
 

Research Summary:

Dr. Jun Li’s research has two arms – basic science in his laboratory (Research Lab) and clinical research. Research in our lab focuses on acquiring a better understanding of myelin biology and how axon degenerates and demyelination takes place in peripheral nervous diseases. We investigate how myelinating Schwann cells interact with axons and how genetic mutations in various types of inherited peripheral neuropathies - also known as Charcot-Marie-Tooth diseases (CMT) - alter the molecular signaling between the two types of cells. We hope that these investigations will lead to molecular targets for developing therapeutic interventions.

Clinical presentation of patients with CMT typically includes distal muscle weakness, sensory loss, foot deformities and absent deep tendon reflexes. Currently, there are over 90 specific genes that are linked with different subtypes of CMT. However, over 20% of diagnosed inherited neuropathies still have no known genetic cause. Currently we are studying several genes and their related CMT disease using a variety of in vitro and in vivo models in our lab.

With respect to our clinical studies, Dr. Li directs a CMT clinic that is specifically designated to the patients with inherited neuropathies. This multi-disciplinary clinic occurs weekly at University Health Center. We are interested in genotype/phenotype correlation, identification of novel genes causing CMT, and use of quantitative MRI and human skin biopsy as a minimally invasive tool in evaluation of nerve pathology. In addition, we are a part of the NIH funded Rare Disease Clinical Research Network - Inherited Neuropathies Consortium. If you are interested in our CMT studies, please contact our study coordinator Sadaf Saba at ssaba@med.wayne.edu or call 313-966-0473. For patients who are interested in visiting our CMT clinic, please contact Theodora Nwamba; Tel: 313-745-5124; tnwamba@dmc.org.

Awards & Honors

1999: David Kotlarek Award from Ohio State University for the excellence in patient care
2004: NIH K08 Award
2005- present: Best Doctors in America
2005: Faculty Research Excellence Award, Wayne State University School of Medicine
2008: Junior Faculty Award – Science, Wayne State University
2014: Wolfe Research Prize from American Neurological Association
2017: Littlejohn Faculty Fellow, Vanderbilt University
2017: Featured Scientist by Vanderbilt Brain Institute
2021: selected to Wayne State University Academy of Scholars

Graduate

Drexel University College of Medicine (former name = Hahnemann University), PhD (Neuroscience), 1995

Medical

Anhui Medical University, MD, 1985

Position Title

Professor and Chair of Neurology
Scientific Director of Translational Neuroscience Initiative

Internships

Mount Carmel Hospital, Columbus, OH, 1995-1996

Residency

Ohio State University Medical Center (Neurology), Columbus, OH, 1996-1999

Specialties

neuromuscular-program

Fellowships

University of Utah (EMG/Neuromuscular Diseases), Salt Lake City, UT, 1999-2000

Interests

Inherited peripheral nerve diseases, myelin biology, motor neuron diseases, electromyography, skin biopsy for evaluation of peripheral nerve diseases

Publications

(SELECTED)

1. Li J, Bai YH, Ghandour K, Qin P, Grandis M, Trostinskaia A, Ianakova E, Wu XY, Schenone A, Vallat JM, Kupsky WJ, Hatfield J, Shy ME. Skin biopsies in myelin related neuropathies; bringing molecular pathology to the bedside. Brain, 2005;128 (Pt 5):1168-77. PMID: 15774502.

2. Li J, Bai YH, Ianokova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME. Major Myelin Protein Gene (P0) Mutation Causes a Novel Form of Axonal Degeneration. J Comp Neurol; 2006; 498(2):252-265. PMID: 16856127.

3. Bai YH, Ianakova E, Pu Q, Ghandour K, Levinson R, Martin JJ, Ceuterick-de Groote C, Mazanec R, Seeman P, Shy ME, and Li J. Effect of an R69C mutation in myelin protein zero gene on myelination and ion Channel Subtypes. Arch Neurol 2006; 63: 1787 – 1794. PMID: 17172621.

4. Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME,Nicholson GA. Stoichiometric alteration of PMP22 protein determines the phenotype of HNPP. Arch Neurol 2007; 64 (7): 974-978. PMID: 17620487.

5. Chow CY, Zhang YL, Dowling J, Jin N, Adamska M, Shiga K, Szigeta K, Shy ME, Li J, Zhang XB, Lupski JR, Weisman L, Meisler MH. Mutation of FIG4 encoding a PI(3,5)P2 phosphatase causes neurodegeneration in the pale tremor mouse and in patients with CMT type 4J. Nature; 2007; 448 (7149): 68-72. PMID: 17572665.

6. Zhang XB, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J. Mutation of FIG4 Causes a Rapidly Progressive, Asymmetric Neuronal Degeneration. Brain, 2008; 131(Pt 8):1990-2001. PMID: 18556664.

7. Katona I, Wu XY, Feely SME, Sottile S, Siskind C, Miller LJ, Shy ME, and Li J. PMP22 Expression in Dermal Nerve Myelin from Patients with CMT1A. Brain 2009; 132(Pt 7):1734-40. PMID: 19447823; PMCID: PMC2724915.
8. Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, and Li J. Shortened Internodal Length of Dermal Myelinated Nerve Fibers in CMT1A. Brain 2009; 132: 3263-73. PMID: 19923170. PMCID: PMC2800385

9. Bai Y, Zhang XB, Katona I, Saporta MA, Shy ME, O’Malley HA, Isom LL, Suter U, Li J. Conduction Block in PMP22 Deficiency. Journal of Neuroscience 2010; 30: 600-608. PMID: 2001523; PMCID: PMC3676309.

10. Guo JS, Wang LM, Zhang Y, Wu JW, Arpag S, Hu B, Imhof BA, Tian XX, Carter BD, Suter U, Li J. Abnormal Myelin Junctions and Permeability in PMP22 Deficient Nerves; Annals of Neurology 2014; 75 (2): 255-65. PMID: 24339129; PMCID: PMC4206215.

11. Liu PF, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Urtreger AO, and Lupski JR. Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie- Tooth Type 1A Triplication. American Journal of Human Genetics; 2014, 94 (3): 462-9. PMID: 24530202; PMCID: PMC3951935.

12. Dortch RD, Dethrage LM, Gore JC, Smith SA, and Li J; Proximal Nerve Magnetization Transfer MRI Relates to Disability in Charcot-Marie- Tooth Diseases. Neurology 2014; 83: 1545-53. PMID: 25253751; PMCID: PMC4222857.

13. Zou JL, Hu B, Arpag S, Hamilton A, Zeng YS, Vanoye C, and Li J. Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4 Deficient Cells. Journal of Neuroscience 2015; 35: 6801-6812. PMID: 25126456; PMCID: PMC4412898.

14. Schlebach J, Narayan M, Alford C, Mittendorf KF, Carter B, Li J, Sanders CR. Conformational Stability Limits the Cellular Trafficking of Pathogenic Variants of the Integral Membrane Protein PMP22. Journal of the American Chemical Society. 2015; 137: 8758-68; PMID: 26102530.

15. Hu B, Arpag S, Zhang XB, Möbius W, Werner H, Sosinsky G, Ellisman M, Zhang Y, Hamilton A, Chernoff J, Li J. Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP. PLOS Genetics; 2016; 12(9):e1006290. doi: 10.1371/journal.pgen.1006290. PMID: 27583434

16. Hu B, Arpag S, Zuchner S, Li J. A Novel Missense Mutation of CMT2P Alters Transcription Machinery. Annals of Neurology; 2016; 80: 834-845. PMID: 27615052; PMCID: PMC51774558 (with Editorial Commentary).

17. Mittendorf KF, Marinko JT, Hampton CM, Hadziselimovic A, Schlebach JP, Law CL, Li J, Wright ER, Sanders CR, and Ohi MD. Peripheral Myelin Protein 22 Alters Model Membrane Architecture. Science Advances; 2017; 3: el700220; doi: 10.1126/sciadv.1700220. PMID: 28695207.

18. Hu B, Simmons M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley BC, Burnett BW, Siskind C, Day JW, Yawn R, Feely S, Li YB, Yan Q, Shy ME, Li J. Myelin Abnormality in CMT4J Recapitulates Features of Acquired Demyelinating Neuropathies; ePub ahead of print; Annals of Neurology; 2018.

19. Moiseev D, Hu B and Li J. Morphometric Analysis of Peripheral Myelinated Nerve Fibers through Deep Learning; Journal of Peripheral Nerve System; 2018; doi:10.1111/jns.12293; PMID: 30488523; PMCID: PMC6420354

20. Vanoye CG, Sakakura M, Rose M. Follis RM, Narayan M, Li J, Sanders CR and Carter BD. Peripheral myelin protein 22 modulates store operated calcium channel activity; Journal of Biological Chemistry; JBC 2019; 294: 12054-12065. PMID: 31213528; PMCID: PMC6690708

21. Pantera1 H, Hu B, Moiseev D, Dunham C, Rashid J, Moran1 JJ, Krentz KC, Rubinstein D, Won S, Li J, and Svaren J; Pmp22 Super-enhancer Deletion Causes Tomacula Formation and Conduction Block in Peripheral Nerves; Human Molecular Genetics; 2020; ePub ahead of print; PMID: 32356557; PMCID: PMC7322568.

22. Chen YS, Moiseev, Kong WY, Bezanovski A, Li J; Automation of Quantifying Axonal Loss in Patients with Peripheral Neuropathies through Deep Learning Derived Muscle Fat Fraction; JMRI; 2021; 53: 1539-1549; PMID: 33448058
 

 

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