Peter Kang, MD

Professor and Vice Chair of Research, Department of Neurology


Research Interests:

A one or two paragraph description of your research interests.  My laboratory conducts genomic analyses of muscular dystrophy using cutting edge techniques, focusing on solving genetically undiagnosed cases, particularly of limb-girdle muscular dystrophy.  We developed a novel software pipeline to detect hidden splice site variants.  I led an international consortium that described the association of pathogenic variants in JAG2 with muscular dystrophy in 2021.  The other major current project in my laboratory focuses on the role of Notch pathway dysfunction in inherited muscle disease, especially regarding interactions with the protein MEGF10, encoded by a gene of the same name that is associated with a rare inherited muscle disease.

Selected Publications:

  • Saha M, Rizzo SA, Ramanathan M, Hightower RM, Santostefano KE, Terada N, Finkel RS, Berg JS, Chahin N, Pacak CA, Wagner RE, Alexander MS, Draper I, Kang PB. Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. Hum Mol Genet. 2019 Jul 15;28(14):2365-2377. doi: 10.1093/hmg/ddz064. PMID: 31267131; PMCID: PMC6606856.
  • Li C, Vargas-Franco D, Saha M, Davis RM, Manko KA, Draper I, Pacak CA, Kang PB. Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration. FEBS Open Bio. 2021 Jan;11(1):114-123. doi: 10.1002/2211-5463.13031. Epub 2020 Nov 26. PMID: 33159715; PMCID: PMC7780119.
  • Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Erratum in: Am J Hum Genet. 2021 Jun 3;108(6):1164. PMID: 33861953; PMCID: PMC8206160.
Picture of Peter Kang