Joshua Burns, PhD

Member, St. Jude Faculty

Director, Disability Prevention Program

Jeweler’s Charity Fund Endowed Chair

Departments

Qualifications

BAppSc (Pod)(Hons) – University of Western Sydney, Sydney, Australia
PhD - University of Sydney, Sydney, Australia
FFPM RCPS (Glasg) - Royal College of Physicians and Surgeons of Glasgow
FAHMS - Australian Academy of Health and Medical Sciences

Research Interests

Gait and movement disorders of childhood
Peripheral neuropathy and nervous system malformations
Clinical Outcome Assessments and biomarkers
Precision measurement and disability prevention

Current Research

Establishing a global certification standard for evaluating Charcot-Marie-Tooth disease (Muscular Dystrophy Association), Principal Investigator
Accelerate Clinical Trials in CMT (ACTCMT) Study (U01, NIH), Co-Investigator
TRANSMIT: A Multifaceted Knowledge Translation Strategy Improving Function in Children and Youth with Cerebral Palsy (National Health and Medical Research Council of Australia), Co-Investigator
Australian Cerebral Palsy Musculoskeletal Health Network (Medical Research Future Fund of Australia), Co-Investigator
Efficacy of Rehabilitation for Hereditary Ataxias (Medical Research Future Fund of Australia), Co-Investigator
Inherited Neuropathy Consortium (INC) RDCRC (U54, NIH), Co-Investigator

Contact Information

Joshua Burns, PhD Department of Epidemiology and Cancer Control St. Jude Children's Research Hospital 262 Danny Thomas Place Memphis, TN 38105-3678

Email: Joshua.Burns@STJUDE.ORG

Selected Publications

Mandarakas MR, Eichinger KJ, Bray P, Cornett KMD, Shy ME, Reilly MM, Ramdharry GM, Scherer SS, Pareyson D, Estilow T, McKay MJ, Herrmann DN, Burns J. Multicenter validation of the Charcot-Marie-Tooth functional outcome measure. Neurology. 2024 Feb 13;102(3):e207963. PubMed Central PMCID: PMC11097760.

Burns J, Sman AD, Cornett KMD, Wojciechowski E, Walker T, Menezes MP, Mandarakas MR, Rose KJ, Bray P, Sampaio H, Farrar M, Refshauge KM, Raymond J. Safety and efficacy of progressive resistance exercise for Charcot-Marie-Tooth disease in children: A randomised, double-blind, sham-controlled trial. Lancet Child Adolesc Health. 2017 Oct;1(2):106-113. PubMed PMID: 30169201.

Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM. Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: A randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 2009 Jun;8(6):537-44. PubMed PMID: 19427269.

Cornett KM, Menezes MP, Bray P, Halaki M, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laurá M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden J, Eichinger KJ, Herrmann DN, Shy ME, Burns J. Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurol. 2016 Jun 1;73(6):645-51. PubMed Central PMCID: PMC4916861.

Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol. 2012 May;71(5):642-52. PubMed Central PMCID: PMC3335189.

Donlevy GA, Garnett SP, Cornett KMD, McKay MJ, Baldwin JN, Shy RR, Yum SW, Estilow T, Moroni I, Foscan M, Pagliano E, Pareyson D, Laura M, Bhandari T, Muntoni F, Reilly MM, Finkel RS, Sowden JE, Eichinger KJ, Herrmann DN, Shy ME, Burns J, Menezes MP. Association between body mass index and disability in children with Charcot-Marie-Tooth disease. Neurology. 2021 Oct 26;97(17):e1727-e1736. PubMed Central PMCID: PMC8605613.

McKay MJ, Baldwin JN, Ferreira P, Simic M, Vanicek N, Burns J. Reference values for developing responsive functional outcome measures across the lifespan. Neurology. 2017 Apr 18;88(16):1512-1519. PubMed PMID: 28330961.

McKay MJ, Baldwin JN, Ferreira P, Simic M, Vanicek N, Burns J. Normative reference values for strength and flexibility of 1,000 children and adults. Neurology. 2017 Jan 3;88(1):36-43. PubMed Central PMCID: PMC5200854.

Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 Oct 3;146(10):4336-4349. PubMed Central PMCID: PMC10545504.

Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, McCray BA, Ramchandren S, Burns J, Li J, Finkel RS, Scherer SS, Zuchner S, Shy ME, Reilly MM, Herrmann DN. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. Brain. 2023 Sep 1;146(9):3826-3835. PubMed Central PMCID: PMC10473553.

Donlevy GA, Cornett KMD, Garnett SP, Shy R, Estilow T, Yum SW, Anderson K, Pareyson D, Moroni I, Muntoni F, Reilly MM, Finkel RS, Herrmann DN, Eichinger KJ, Shy ME, Burns J, Menezes MP. Association of body mass index with disease progression in children with Charcot-Marie-Tooth disease. Neurology. 2023 Aug 15;101(7):e717-e727. PubMed Central PMCID: PMC10437011.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014 Jan;137(Pt 1):44-56. PubMed Central PMCID: PMC3891447.

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O. Development and validation of the Charcot-Marie-Tooth disease infant scale. Brain. 2018 Dec 1;141(12):3319-3330. PubMed Central PMCID: PMC6312041.

Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J. Natural history of Charcot-Marie-Tooth disease during childhood. Ann Neurol. 2017 Sep;82(3):353-359. PubMed Central PMCID: PMC8294172.

Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538. PubMed PMID: 35140138.

Cornett KMD, Wojciechowski E, Sman AD, Walker T, Menezes MP, Bray P, Halaki M, Burns J. Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease. Muscle Nerve. 2019 Feb;59(2):213-217. PubMed PMID: 30265406.

Wojciechowski E, Sman A, Cornett K, Raymond J, Refshauge K, Menezes MP, Burns J. Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait Posture. 2017 Jul;56:89-94. PubMed PMID: 28527386.

Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, Inherited Neuropathy Consortium (Rodriguez A, Bacha A, Kosikowski A, Wood B, McCray B, Blume B, Siskind C, Sumner C, Calabrese D, Walk D, Vujovic D, Park E, Muntoni F, Donlevy G, Acsadi G, Day J, Burns J, Li J, Krajewski K, Eichinger K, Cornett K, Mullen K, Laura PQ, Gutmann L, Barrett M, Saporta M, Skorupinska M, Grant N, Bray P, Seyedsadjadi R, Zuccarino R, Finkel R, Lewis R, Shy R, Yum S, Hilbert S, Thomas S, Behrens-Spraggins S, Jones T, Lloyd T, Grider T, Estilow T, Fridman V), Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genetics. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4

See a complete list of published work

Last update: August 2024