Carsten G. Bönnemann, M.D.

Senior Investigator

Neuromuscular and Neurogenetic Disorders of Childhood Section


Building 35, Room 2A-116
35 Convent Drive
Bethesda, MD 20892-3705


Research Topics

The overall clinical and laboratory interests of the Section (NNDCS) focus on early onset neuromuscular disorders of childhood, on their genetic and molecular pathogenesis, the pathways involved, and on developing preclinical translational models to lead to actual clinical trials. In the clinical part of the NNDCS we are leveraging next generation genomic technology towards the diagnosis and gene discovery in children with complex neuromuscular and neurogenetic conditions, identifying new genetics entities as well as establishing phenotypic spectra and defining the natural history of selected genetic entities. NNDCS has contributed significantly to the knowledge about the genetic bases, natural history and outcome measures in the congenital muscular dystrophies and has initiated a first clinical trial in this patient group (using omigapil). Research in the NNDCS lab further focuses on the molecular pathogenesis of early onset muscle disorders using cellular and newly generated animal models, with the goal of defining opportunities for therapeutic interventions. A particular effort is devoted to gene editing approaches as well as RNA directed therapeutics directed at allele specific knockdown of dominantly acting mutations. We are also determining natural history and outcome measures in giant axonal neuropathy and in this condition have initiated the first intrathecal AAV9 mediated gene transfer trial in human.


Dr. Bonnemann received his MD from Freiburg University, Germany. He completed pediatric training and venia legendi (Habilitation) in Germany. Residency in pediatric neurology at MGH/Harvard was followed by postdoctoral work with Dr. Louis Kunkel at Children's Hospital Boston working on the molecular genetics of muscular dystrophy. In 2002 he joined the Children's Hospital of Philadelphia/University of Pennsylvania as Assistant Professor, Co-Director of the Neuromuscular Program, and Director of the Neurogenetics Clinic. He joined NINDS in 2010 as Senior Investigator and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section. Dr. Bonnemann was a Pew Fellow in the Biomedical Sciences. He received the 2009 Derek Denny Brown Neurological Scholar Award. Research in Dr. Bonnemann's laboratory revolves around molecular mechanisms underlying early onset muscle disease (congenital muscular dystrophies, congenital myopathies, and reducing body myopathy). The laboratory's goal is to identify the genetic and cellular mechanisms in these conditions in order to develop strategies for molecular-based treatments.

Selected Publications

  1. Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A, Genotype-Tissue Expression Consortium., Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017;9(386).

  2. Chesler AT, Szczot M, Bharucha-Goebel D, Čeko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bönnemann CG. The Role of PIEZO2 in Human Mechanosensation. N Engl J Med. 2016;375(14):1355-1364.

  3. Bolduc V, Zou Y, Ko D, Bönnemann CG. siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. Mol Ther Nucleic Acids. 2014;3:e147.

  4. Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014;23(9):2339-52.

  5. Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG. P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet. 2017;26(12):2207-2217.

This page was last updated on August 31st, 2017