LIke ThisLIke ThisLIke This

Emanuela Gussoni, PhD

Gussoni Laboratory
Medicine Research
Genetics and Genomics Research
Hospital Title:
Assistant in Medicine
Academic Title:
Assistant Professor in Pediatrics, Harvard Medical School
Research Focus Area:
Human Derived Muscle Side Population Cells
Contact Via Email
Send an email to SendYour Name*Your Email Address*Subject*Comments*

Research Overview

Our long-term goal is to optimize a cell-based therapy for patients with muscular dystrophy. We are now pursuing this goal by optimizing isolation and engraftment of human muscle stem cells, and by creating new animal models for preclinical testing.

Current Projects:

Isolation of muscle progenitors
We are thoroughly comparing the transcriptome--the set of active genes--of human muscle stem cells to that of committed muscle cells using microarray technology to identify specific markers of muscle stem cells that can be used to purify stem cells from primary tissues.

Proliferation of muscle progenitors
We are studying the proliferation mechanisms of muscle progenitors to ultimately generate sufficient muscle cells for therapy.

Ultimately, we seek to optimize engraftment of injected cells by identifying and subsequently boosting the mechanisms by which muscle stem cells fuse to pre-existing myofibers. We also hope to optimize the injection and dissemination of human muscle stem cells in mouse models of muscular dystrophy.

Gussoni LabThe fibers in our muscles form upon contraction of myotubes (fused muscle cells). Here, a series of myotubes are shown stained with an antibody that detects dystrophin (green), the protein that is functionally altered or lost in the Duchenne-Becker form of the muscle wasting disease, muscular dystrophy.

To read more about our work, visit our lab website.

About Emanuela Gussoni

Emanuela Gussoni is an Assistant Professor of Pediatrics at Harvard Medical School and an Assistant in Medicine at Children's Hospital Boston. She received her PhD in neuroscience from the University of Milan, Italy.

She began developing strategies to treat muscular dystrophy as a postdoctoral fellow in the laboratories of Ferdinando Cornelio, MD, at the Carlo Besta Neurological Institute; Helen Blau, PhD, and Larry Steinman, MD, at Stanford University; and Louis Kunkel, PhD, at Children's Hospital Boston. She started her own laboratory at Children's in 2001.


Publications powered by Harvard Catalyst Profiles
  1. Chal J, Oginuma M, Al Tanoury Z, Gobert B, Sumara O, Hick A, Bousson F, Zidouni Y, Mursch C, Moncuquet P, Tassy O, Vincent S, Miyanari A, Bera A, Garnier JM, Guevara G, Hestin M, Kennedy L, Hayashi S, Drayton B, Cherrier T, Gayraud-Morel B, Gussoni E, Relaix F, Tajbakhsh S, Pourquié O. Differentiation of pluripotent stem cells to muscle fiber to model Duchenne muscular dystrophy. Nat Biotechnol. 2015 Sep; 33(9):962-9.
  2. Robin JD, Wright WE, Zou Y, Cossette SC, Lawlor MW, Gussoni E. Isolation and immortalization of patient-derived cell lines from muscle biopsy for disease modeling. J Vis Exp. 2015; (95):52307.
  3. Meng H, Janssen PM, Grange RW, Yang L, Beggs AH, Swanson LC, Cossette SA, Frase A, Childers MK, Granzier H, Gussoni E, Lawlor MW. Tissue triage and freezing for models of skeletal muscle disease. J Vis Exp. 2014; (89).
  4. Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 1; 23(21):5781-92.
  5. Huang P, Schulz TJ, Beauvais A, Tseng YH, Gussoni E. Intramuscular adipogenesis is inhibited by myo-endothelial progenitors with functioning Bmpr1a signalling. Nat Commun. 2014; 5:4063.
  6. Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014 Jul; 28(7):2955-69.
  7. Rozkalne A, Adkin C, Meng J, Lapan A, Morgan JE, Gussoni E. Mouse regenerating myofibers detected as false-positive donor myofibers with anti-human spectrin. Hum Gene Ther. 2014 Jan; 25(1):73-81.
  8. Wu MP, Doyle JR, Barry B, Beauvais A, Rozkalne A, Piao X, Lawlor MW, Kopin AS, Walsh CA, Gussoni E. G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo. FEBS J. 2013 Dec; 280(23):6097-113.
  9. Schulz TJ, Huang P, Huang TL, Xue R, McDougall LE, Townsend KL, Cypess AM, Mishina Y, Gussoni E, Tseng YH. Brown-fat paucity due to impaired BMP signalling induces compensatory browning of white fat. Nature. 2013 Mar 21; 495(7441):379-83.
  10. Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8.
  11. Show all
  12. Lapan AD, Rozkalne A, Gussoni E. Human fetal skeletal muscle contains a myogenic side population that expresses the melanoma cell-adhesion molecule. Hum Mol Genet. 2012 Aug 15; 21(16):3668-80.
  13. Liadaki K, Casar JC, Wessen M, Luth ES, Jun S, Gussoni E, Kunkel LM. ß4 integrin marks interstitial myogenic progenitor cells in adult murine skeletal muscle. J Histochem Cytochem. 2012 Jan; 60(1):31-44.
  14. Lapan AD, Gussoni E. Isolation and characterization of human fetal myoblasts. Methods Mol Biol. 2012; 798:3-19.
  15. Wu MP, Gussoni E. Carbamylated erythropoietin does not alleviate signs of dystrophy in mdx mice. Muscle Nerve. 2011 Jan; 43(1):88-93.
  16. Kang PB, Lidov HG, White AJ, Mitchell M, Balasubramanian A, Estrella E, Bennett RR, Darras BT, Shapiro FD, Bambach BJ, Kurtzberg J, Gussoni E, Kunkel LM. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50.
  17. Sohn RL, Huang P, Kawahara G, Mitchell M, Guyon J, Kalluri R, Kunkel LM, Gussoni E. A role for nephrin, a renal protein, in vertebrate skeletal muscle cell fusion. Proc Natl Acad Sci U S A. 2009 Jun 9; 106(23):9274-9.
  18. Luth ES, Jun SJ, Wessen MK, Liadaki K, Gussoni E, Kunkel LM. Bone marrow side population cells are enriched for progenitors capable of myogenic differentiation. J Cell Sci. 2008 May 1; 121(Pt 9):1426-34.
  19. Kirillova I, Gussoni E, Goldhamer DJ, Yablonka-Reuveni Z. Myogenic reprogramming of retina-derived cells following their spontaneous fusion with myotubes. Dev Biol. 2007 Nov 15; 311(2):449-63.
  20. Bruno Peault, Michael Rudnicki, Yvan Torrente, Giulio Cossu, Jacques Tremblay, Terry Partridge, Emanuela Gussoni, Louis M Kunkel and Johnny Huard. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Molecular Therapy. 2007; 15(5):867-77.
  21. Péault B, Rudnicki M, Torrente Y, Cossu G, Tremblay JP, Partridge T, Gussoni E, Kunkel LM, Huard J. Stem and progenitor cells in skeletal muscle development, maintenance, and therapy. Mol Ther. 2007 May; 15(5):867-77.
  22. Yoon S, Molloy MJ, Wu MP, Cowan DB, Gussoni E. C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia. Dev Biol. 2007 Jan 1; 301(1):70-81.
  23. Frank NY, Kho AT, Schatton T, Murphy GF, Molloy MJ, Zhan Q, Ramoni MF, Frank MH, Kohane IS, Gussoni E. Regulation of myogenic progenitor proliferation in human fetal skeletal muscle by BMP4 and its antagonist Gremlin. J Cell Biol. 2006 Oct 9; 175(1):99-110.
  24. Cerletti M, Molloy MJ, Tomczak KK, Yoon S, Ramoni MF, Kho AT, Beggs AH, Gussoni E. Melanoma cell adhesion molecule is a novel marker for human fetal myogenic cells and affects myoblast fusion. J Cell Sci. 2006 Aug 1; 119(Pt 15):3117-27.
  25. Muskiewicz KR, Frank NY, Flint AF, Gussoni E. Myogenic potential of muscle side and main population cells after intravenous injection into sub-lethally irradiated mdx mice. J Histochem Cytochem. 2005 Jul; 53(7):861-73.
  26. Pavlath GK, Gussoni E. Human myoblasts and muscle-derived SP cells. Methods Mol Med. 2005; 107:97-110.
  27. Montanaro F, Liadaki K, Schienda J, Flint A, Gussoni E, Kunkel LM. Demystifying SP cell purification: viability, yield, and phenotype are defined by isolation parameters. Exp Cell Res. 2004 Aug 1; 298(1):144-54.
  28. Rivier F, Alkan O, Flint AF, Muskiewicz K, Allen PD, Leboulch P, Gussoni E. Role of bone marrow cell trafficking in replenishing skeletal muscle SP and MP cell populations. J Cell Sci. 2004 Apr 15; 117(Pt 10):1979-88.
  29. Sohn RL, Gussoni E. Stem cell therapy for muscular dystrophy. Expert Opin Biol Ther. 2004 Jan; 4(1):1-9.
  30. Sebastiani P, Gussoni E, Kohane I and Ramoni M. Statistical challenges in functional genomics. Statistical Science. 2003; 18:33-70.
  31. Gussoni E, Bennett RR, Muskiewicz KR, Meyerrose T, Nolta JA, Gilgoff I, Stein J, Chan YM, Lidov HG, Bönnemann CG, Von Moers A, Morris GE, Den Dunnen JT, Chamberlain JS, Kunkel LM, Weinberg K. Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest. 2002 Sep; 110(6):807-14.
  32. Rivier F, Gussoni E. Muscular dystrophies and stem cells: a therapeutic challenge. Cytotherapy. 2002; 4(6):513-9.
  33. O'Brien K, Muskiewicz K, Gussoni E. Recent advances in and therapeutic potential of muscle-derived stem cells. J Cell Biochem Suppl. 2002; 38:80-7.
  34. Gussoni E, Panzara MA, Steinman L. Evaluating human T cell receptor gene expression by PCR. Curr Protoc Immunol. 2001 May; Chapter 10:Unit 10.26.
  35. Panzara MA, Gussoni E, Begovich AB, Murray RS, Zang YQ, Appel SH, Steinman L, Zhang J. T cell receptor BV gene rearrangements in the spinal cords and cerebrospinal fluid of patients with amyotrophic lateral sclerosis. Neurobiol Dis. 1999 Oct; 6(5):392-405.
  36. Gussoni E, Soneoka Y, Strickland CD, Buzney EA, Khan MK, Flint AF, Kunkel LM, Mulligan RC. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 1999 Sep 23; 401(6751):390-4.
  37. Gussoni E, Blau HM, Kunkel LM. The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med. 1997 Sep; 3(9):970-7.
  38. Miller RG, Sharma KR, Pavlath GK, Gussoni E, Mynhier M, Lanctot AM, Greco CM, Steinman L, Blau HM. Myoblast implantation in Duchenne muscular dystrophy: the San Francisco study. Muscle Nerve. 1997 Apr; 20(4):469-78.
  39. Gussoni E, Panzara MA, Steinman L. Evaluating T-cell receptor gene expression by PCR. Current Protocols in Immunology. 1997; 10.26.1-10.26.14.
  40. Gussoni E, Wang Y, Fraefel C, Miller RG, Blau HM, Geller AI, Kunkel LM. A method to codetect introduced genes and their products in gene therapy protocols. Nat Biotechnol. 1996 Aug; 14(8):1012-6.
  41. Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM. The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives. J Biol Chem. 1996 Feb 2; 271(5):2724-30.
  42. Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 3; 270(5237):819-22.
  43. Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995 Nov; 11(3):266-73.
  44. Gussoni E, Pavlath GK, Miller RG, Panzara MA, Powell M, Blau HM, Steinman L. Specific T cell receptor gene rearrangements at the site of muscle degeneration in Duchenne muscular dystrophy. J Immunol. 1994 Nov 15; 153(10):4798-805.
  45. Mora M, Morandi L, Piccinelli A, Gussoni E, Gebbia M, Blasevich F, Dworzak F, Cornelio F. Dystrophin abnormalities in Duchenne and Becker dystrophy carriers: correlation with cytoskeletal proteins and myosins. J Neurol. 1993 Sep; 240(8):455-61.
  46. Panzara MA, Gussoni E, Steinman L, Oksenberg JR. Analysis of the T cell repertoire using the PCR and specific oligonucleotide primers. Biotechniques. 1992 May; 12(5):728-35.
  47. Gussoni E, Pavlath GK, Lanctot AM, Sharma KR, Miller RG, Steinman L, Blau HM. Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation. Nature. 1992 Apr 2; 356(6368):435-8.
  48. Morandi L, Mora M, Gussoni E, Tedeschi S, Cornelio F. Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin. Ann Neurol. 1990 Nov; 28(5):674-9.
LIke ThisLIke ThisLIke This

Related Laboratory

Gussoni Laboratory

Learn more