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NINDSNIMHNICHDNIDCDNEINIDCRNIANIAAANIDANHGRI NCCIHNIDDKNIEHSCCB

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Investigator

Katherine G. Meilleur, PhD, PPCNP-BC

Neuromuscular Symptoms Unit

Tissue Injury Branch
1 Cloister Ct MSC4733
Bethesda 20814-4733
Office: 301 435 1503

Fax: 301 480 4170
Meilleurk@mail.nih.gov

Dr. Katy Meilleur completed a B.S. at the University of Maryland, a B.S.N./M.S.N. at the University of Pennsylvania, and a Ph.D. at Johns Hopkins University. Her interests in international health and genetics led her to do her dissertation with Dr. Kenneth Fischbeck, a neurologist in NINDS, who had a partnership in Bamako, Mali, West Africa. There, she identified a novel genetic locus for hereditary spastic paraplegia. She also developed a scale to test knowledge and attitudes of Malians before and after receiving genetic testing for the first time. After a postdoc appointment in the NHGRI’s Center for Research on Genomics and Global Health with Dr. Charles Rotimi, Dr. Meilleur became a staff scientist in NINDS and continued to do gene discovery studies and scale development in the Neuromuscular and Neurogenetic Disorders of Childhood Section with Dr. Carsten Bonnemann. She is now a Tenure Track Investigator in the intramural program of NINR, where she develops and studies clinical outcomes in pediatric neuromuscular disease and performs clinical trials to develop treatments for these conditions, particularly RYR1-related myopathies. Dr. Meilleur has received two Bench to Bedside Awards, an Innovation Award, and a grant from the RYR1 Foundation for her work at NINR.



The Meilleur Lab investigates effective ways to reliably measure and treat symptoms of congenital muscle disease, particularly ryanodine receptor 1-related myopathies (RYR1-RM). The RyR1 protein functions as the major calcium channel in skeletal muscle and is critical to excitation-contraction coupling. Mutations in the gene RYR1 result in decreased expression of RyR1 protein and/or the dysregulation of calcium release from the sarcoplasmic reticulum through this large ion channel into the sarcoplasm. To date, no FDA approved treatments exist for RYR1-RM. Currently, our team is developing and testing clinical outcome measures for RYR1-RM and identifying the most reliable, valid, and sensitive measures for this population. We recently completed the first formal natural history study and first double blind, randomized control trial (RCT) in this disease. In the lab setting, we use in vitro and in vivo models to investigate calcium release and potential therapeutics. Our ultimate goals are to further elucidate the pathomechanism of RYR1-RM and to identify treatments that will decrease injury to muscle tissue and relieve key symptoms including muscle weakness, hypotonia, and fatigue.

Staff Image
  • Carolyn Allen, DNP, AGN-BC, CRNP-F
    Family Nurse Practitioner
    301-480-4110

  • Tokunbor Lawal, Ph.D.
    Postdoctoral Fellow
    301-451-5951

  • M. Sonia Razaqyar, B.A.
    NIH Academy Enrichment Program Scholar
    301-827-5237

  • Joshua Todd, Ph.D.
    Visiting Fellow
    (301) 480-4109

  • Emily Wires, Ph.D.
    Postdoctoral Fellow
    301-435-1503

  • 1) Meilleur, K.G., Linton, M.M., Fontana, J., Rutkowksi, A., Elliott, J., Barton, A., McGraw, P., Kokkinis, A., Donkervoort, S, Leach, M., Jain, M., Dastgir, J., Collins, J., Szczesniak, R., Yang, K., Sawnani, H., Bonnemann, C.G. (2017)
  • Comparison of sitting and supine forced vital capacity in Collagen VI-Related Dystrophy and Laminin α2-Related Dystrophy
  • Pediatr Pulmonol , 52(4), 524-532
  • 2) Bendixen, R.M., Butrum, J., Jain, M., Parks, R., Hodsdon, B., Nichols, C., Hsia, M., Nelson, L., Keller, K.C., McGuire, M., Elliott., J.S., Linton, M.M., Arveson, I.C., Tounkara, F., Vasavada, R., Hartnett, E., Punjabi, M., Donkervoort, S., Dastgir, J., Leach, M.E., Rutkowski, A., Waite, M., Collins, J., Bonnemann, C.G., Meilleur, K.G. (2017)
  • Upper Extremity Outcome Measures for Collagen VI-related Myopathy and LAMA2-related Muscular Dystrophy
  • Neuromusc Disord , Disord doi: 10.1016/j.nmd.2016.11.017
  • 3) Nichols. C., Jain, M.S., Meilleur, K.G., Wu, T., Collins, J.J., Waite, M., Dastgir, J., Donkervoort, S., Doung, T., Keller, K., Leach, M.E., Lott, D.J., McGuire, M.N., Nelson, L., Rutkowski, A., Vuillerot, C., Bönnemann, C.G., Lehky, T.J. (2017)
  • Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy: a cross-sectional and two-year analysis
  • Muscle & Nerve, doi:10.1002/mus.25629
  • 4) Landoure, G. Sammassekou, O., Traoure, M., Meilleur, K.G., Guinto, C.O., Burnett, B.G., Sumner, C.J., Fischbeck, K.H. (2016)
  • Genetics and genomic medicine in Mali: challenges and future perspectives
  • Mol Genet Genomic Med , 17;4(2), 126-34
  • 5) Witherspoon, J.W. & Meilleur, K.G. (2016)
  • Review of RyR1 pathway and associated pathomechanisms
  • Acta Neuropathol Commun, 17;4(1), 121
  • 6) Zukosky, K., Meilleur, K.G., Dastgir, J., Medne, L., Devoto, M., Collins, J., Rooney, J., Zou, Y., Yang, M., Johnson, J., Gibbs, J.R., Finkel, R., Elman, L., Felice, K., Ferguson, T., Tennekoon, G., Traynor, B., Bönnemann, C.G. K., Meilleur, K.G., Dastgir, J., Medne, L., Devoto, M., Collins, J., Rooney, J., Zou, Y., Yang, M., Johnson, J., Gibbs, J.R., Finkel, R., Elman, L., Felice, K., Ferguson, T., Tennekoon, G., Traynor, B., Bönnemann, C.G (2015)
  • Novel ACTA1 mutation identified by exome sequencing underlies a progressive scapuloperoneal myopathy
  • JAMA Neurology, DOI: 10.1001/jamaneurol.2015.37
  • 7) Meilleur K.G., Zukosky, K., Medne, L., Fequiere, P., Powell-Hamilton, N., Winder, T.L., AlSaman, A., El-Hattab, A.W., Dastgir, J., Hu, Y., Donkervoort, S., Golden, J.A., Eagle, R., Finkel, R., Scavina, M., Hood, I.C., Rorke-Adams, L.B., Bönnemann. C.G (2014)
  • Clinical, pathological and mutational spectrum of dystroglycanopathy due to LARGE mutations
  • J Neuropath Exper Neurol, 73(5):, 425-441
  • 8) Vuillerot, C. Meilleur, K.G., Jain, M., Waite, M., Wu, T., Linton, M., Dastgir, J., Donkervoort, S., Leach, M., Rutkowski, A., Rippert, P., Payan, C., Iwaz, J., Hamroun, D., Bérard, C., Poirot, I., Bönnemann, C.G. (2014). English cross-cultural translation and validation of the NM-Score: a system for motor function classification in patients with neuromuscular disease (2014)
  • English cross-cultural translation and validation of the NM-Score: a system for motor function classification in patients with neuromuscular disease
  • Arch Phys Med Rehab, Doi: 10.1016/apmr.2014.05.003
  • 9) Meilleur, K.G., Jain, M.S., Hynan, L.S., Shieh, C.Y., Kim, E., Waite, M., McGuire, M., Fiorini, C., Glanzman, A.M., Main, M., Rose, K., Duong, T., Bendixen, R., Linton, M.M., Arveson, I.C., Nichols, C., Yang, K., Fischbeck, K.H., Wagner, K.R., North, K., Mankodi, A., Grunseich, C., Hartnett, E.J., Smith, M., Donkervoort, S., Schindler, A., Kokkinis, A., Leach, M.E., Foley, A.R., Collins, J., Muntoni, F., Rutkwoski, A., Bönnemann, C.G (2014)
  • Results of a Two-Year Pilot Study of Clinical Outcome Measures in Collagen VI-related Myopathy and LAMA2-related Muscular Dystrophy
  • Neuromuscul Disord , Sept 28 doi:10.1016/j.nmd.2014.09.01
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