I started as an Assistant Clinical Investigator in the Tissue Injury Branch of the NINR in September of 2012. Over the past year, I have had two protocols accepted by the NINR Scientific Review Process. The first one is a study to develop the first proxy motor outcome assessment in young children with neuromuscular disease. It was approved recently by Initial Review of the IRB and is entitled protocol T-NR-0643, Development of a Proxy Motor Outcome Measure in Young Children with Neuromuscular Disease. The second protocol entitled The Calibration and Validation of the PROMIS and Neuro-QOL questionnaires in cerebral palsy and congenital muscular dystrophy had been approved by the IRB as an amendment to an existing NINDS protocol. I am an Associate Investigator on the above mentioned NINDS protocol entitled Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood. As part of this latter protocol, I took a 5 year project with me from NINDS when left NINDS and started with NINR last September. The project is a 5 year study of clinical outcome measures in two subtypes of congenital muscular dystrophy, Collagen VI-Related Myopathy and Laminin 2 Related Muscular Dystrophy. This past July 2013, I organized the 4th year of the study with my recently hired research team, a postbac fellow and a research nurse. The study brought 35 patients to the Clinical Center over a 4 day period mid July 2013 in which the patients under went testing including motor function scales and timed tests, muscle and brain MRI, muscle ultrasound, and quality of life questionnaires. I am in charge of the logistics, patient recruitment, and data storage and analysis of this large project involving approximately 30 clinicians and researchers from across the country. A manuscript summarizing the first two year pilot study of this 5 year longitudinal study is underway. I also recently submitted a paper to the journal Brain regarding the clinical, genetic, and neuropathological spectrums of another subtype of congenital muscular dystrophy, alphadystroglycanopathy due to mutations in the gene LARGE. Additionally I have coauthored 4 manuscripts over the past fiscal year which have been published in peer reviewed journals (see Bibliography). I organized a Congenital Muscle Disease Conference and Research Symposium on the heels of the clinical study in July in which I played several roles. I facilitated and presented at the 2013 Cure Congenital Muscle Disease (Cure CMD) Research Symposium held this past summer on the NIH campus. The biannual conference, geared toward affected persons, families of affected children, clinicians and researchers, was co-hosted by NINR this year. Over 150 attendees from all over the world came to NIH to participate in the conference. In addition to assisting with the facilitation of the conference, I presented two posters. The first reported preliminary results from the five-year longitudinal study of clinical outcome measures in Collagen VI-Related Myopathy and Laminin 2-Related Muscular Dystrophy and focused on their feasibility, validity, and reliability. The second evaluated change in forced vital capacity from the sitting to supine positions for the two disease subtypes. I also presented several posters at the World Muscle Society Meeting in October of 2012, the premier international and interdisciplinary society focusing on muscle diseases. Finally, I hired both members of my research team over the past year since this was my first year at NINR.
|Donkervoort, Sandra; Hu, Ying; Stojkovic, Tanya et al. (2015) Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Hum Mutat 36:48-56|
|Sangaré, Modibo; Hendrickson, Brant; Sango, Hammadoun Ali et al. (2014) Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann Neurol 75:525-32|
|Vuillerot, Carole; Meilleur, Katherine G; Jain, Minal et al. (2014) English Cross-Cultural Translation and Validation of the Neuromuscular Score: A System for Motor Function Classification in Patients With Neuromuscular Diseases. Arch Phys Med Rehabil :|
|Meilleur, Katherine G; Zukosky, Kristen; Medne, Livija et al. (2014) Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol 73:425-41|
|Landoure, Guida; Zhu, Peng-Peng; Lourenco, Charles M et al. (2013) Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat 34:1357-60|
|Landouré, Guida; Mochel, Fanny; Meilleur, Katherine et al. (2013) Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. J Neurol 260:324-6|
|Pierson, Tyler Mark; Markello, Thomas; Accardi, John et al. (2013) Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Neuromuscul Disord 23:483-8|