Mary Reilly (academic)

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Mary Reilly
Born
Belmullet, County Mayo, Ireland
Alma mater University College Dublin
Known forInherited neuropathies
Scientific career
Institutions National Hospital for Neurology and Neurosurgery

Mary M. Reilly FRCP is an Irish neurologist who works at National Hospital for Neurology and Neurosurgery. She studies peripheral neuropathy. She is the President of the Association of British Neurologists.

Contents

Early life and education

Reilly studied medicine at University College Dublin, graduating in 1986. [1] [2] She worked for a few years as a neurologist at St. Vincent's University Hospital, before joining Anita Harding at the National Hospital for Neurology and Neurosurgery in 1991. [1] [3] [4] [5] Reilly has spoken of how much she admired her supervisor, and attributes her clinical interests to Harding. [6] Reilly earned her medical doctorate in 1996, focussing on familial amyloid polyneuropathy. [1] [7] [8] She completed her neurological training at Royal Free Hospital and Guy's Hospital, [1] training with P. K. Thomas and Richard Hughes. [9]

Career

At the National Hospital for Neurology and Neurosurgery Reilly specialises in inherited neuropathies. [10] [11] She was made consultant neurologist in 1998 [3] and a Fellow of the Royal College of Physicians in 2002. [4] She began to study neuromuscular disease, [12] in particular Charcot–Marie–Tooth disease. [13] [14] In 2004, she found that Vitamin C could be used to improve symptoms in mouse models of CMT1A (Charcot–Marie–Tooth disease type 1A). [15] She established a randomized controlled trial with colleagues in Italy to evaluate the efficacy of Vitamin C on CMT1A. [15] The UK part of the trial consisted of 50 participants, and found that whilst Vitamin C is safe, it does not slow the progression of the disease. [15] Although the trial was not a success, it developed new neuropathy outcome measures. [15] Her research includes the identification of genes such as BICD2 and methionyl-tRNA synthetase (MARS); [10] [16] [17] she has already conducted functional analysis of IGHMBP2. [18]

Reilly works with Muscular Dystrophy UK on muscle-wasting conditions. [19] She has also worked on new biomarkers for disease progression. [20] CMT parents suffer from damaged motor nerves, which results in muscles weakening, and ultimately allows fat to accumulate in muscles; MRI outcome measures could monitor intramuscular fat accumulation, and detect muscle water changes that preceded fat accumulation. [20] [21] Reilly identified that calf muscle fat friction maps are an outcome measure in patients with CMT1A, with calf muscle fat increased significantly in patients with CMT1A [22] She received a $1,000,000 grant from the Muscular Dystrophy Association to evaluate MRI protocols for monitoring changes in muscles from CMT. [23] [21]

In 2010 Reilly was appointed Professor of Clinical Neurology at University College London. [24] She leads the Division of Clinical Neurology and Medical Research Council Centre for Neuromuscular Diseases. [25] [26] With the MRC Centre for Neuromuscular Diseases and Muscular Dystrophy UK, Reilly runs an annual translational neuromuscular diseases meeting, which includes a patient day to discuss inherited neuropathies. [26] Along with CMT, Reilly has worked on hereditary sensory and autonomic neuropathies and carpal tunnel syndrome in inherited neuropathies. [27]

Reilly contributed to the 2013 Handbook of Clinical Neurology, [28] and wrote a chapter for the 2016 Springer Publishing collection Neuromuscular Disease: Case Studies from Queen Square. [29] [30] Reilly has served as President of the British Peripheral Nerve Society and the International Peripheral Nerve Society. [31] In 2015 she was appointed President-elect of the Association of British Neurologists. [3] She became the first woman to take the role in 2017. [3]

Related Research Articles

<span class="mw-page-title-main">Charcot–Marie–Tooth disease</span> Neuromuscular disease

Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. This disease is the most commonly inherited neurological disorder, affecting about one in 2,500 people. It is named after those who classically described it: the Frenchman Jean-Martin Charcot (1825–1893), his pupil Pierre Marie (1853–1940), and the Briton Howard Henry Tooth (1856–1925).

<span class="mw-page-title-main">Muscular dystrophy</span> Genetic disorder

Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs.

<span class="mw-page-title-main">Polyneuropathy</span> Any disease affecting peripheral nerves on both sides of the body

Polyneuropathy is damage or disease affecting peripheral nerves in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain. It usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonomic nervous system. It may be acute or chronic. A number of different disorders may cause polyneuropathy, including diabetes and some types of Guillain–Barré syndrome.

<span class="mw-page-title-main">Duchenne muscular dystrophy</span> Type of muscular dystrophy

Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.

<span class="mw-page-title-main">Dejerine–Sottas disease</span> Medical condition

Dejerine–Sottas disease, also known as, Dejerine–Sottas syndrome, hereditary motor and sensory polyneuropathy type III, and Charcot–Marie–Tooth disease type 3, is a hereditary neurological disorder characterized by damage to the peripheral nerves, demyelination, and resulting progressive muscle wasting and somatosensory loss. The condition is caused by mutations in various genes and currently has no known cure.

<span class="mw-page-title-main">GJB1</span> Protein-coding gene in humans

Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32), is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system. However, the protein is expressed in multiple organs, including in oligodendrocytes in the central nervous system.

<span class="mw-page-title-main">Glycine—tRNA ligase</span> Protein-coding gene in the species Homo sapiens

Glycine—tRNA ligase also known as glycyl–tRNA synthetase is an enzyme that in humans is encoded by the GARS1 gene.

<span class="mw-page-title-main">Peripheral myelin protein 22</span> Protein-coding gene in the species Homo sapiens

Peripheral myelin protein 22 (PMP22), also called Growth arrest-specific protein 3 (GAS-3), is a protein which in humans is encoded by the PMP22 gene. Mutations in PMP22 cause changes in the expression of peripheral myelin protein 22 which can result in several neuropathies.

<span class="mw-page-title-main">Hereditary motor and sensory neuropathy</span> Medical condition

Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication. HMSN are characterised by atypical neural development and degradation of neural tissue. The two common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies. In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities.

<span class="mw-page-title-main">Hereditary neuropathy with liability to pressure palsy</span> Medical condition

Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition that affects the nerves. Pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of HNPP even a short period of pressure can cause the symptoms to occur. Palsies can last from minutes or days to weeks or even months.

<span class="mw-page-title-main">Spinal muscular atrophy with lower extremity predominance 1</span> Rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy

Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs.

Neuromuscular ultrasound refers to a field in medicine in which ultrasound is used to diagnosis and guide treatment for people with neuromuscular diseases. Neuromuscular ultrasound is often combined with electrodiagnosis, and particularly nerve conduction studies and EMG, to improve the accuracy of diagnosis and add anatomic information to the functional information obtained with electrodiagnosis. It has been demonstrated that neuromuscular ultrasound adds value to the diagnosis of nerve disease in over 80% of cases.

Electromyoneurography (EMNG) is the combined use of electromyography and electroneurography This technique allows for the measurement of a peripheral nerve's conduction velocity upon stimulation (electroneurography) alongside electrical recording of muscular activity (electromyography). Their combined use proves to be clinically relevant by allowing for both the source and location of a particular neuromuscular disease to be known, and for more accurate diagnoses.

Classifications of Charcot–Marie–Tooth disease refers to the types and subtypes of Charcot–Marie–Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.

Distal hereditary motor neuropathy type V is a particular type of neuropathic disorder. In general, distal hereditary motor neuropathies affect the axons of distal motor neurons and are characterized by progressive weakness and atrophy of muscles of the extremities. It is common for them to be called "spinal forms of Charcot-Marie-Tooth disease (CMT)", because the diseases are closely related in symptoms and genetic cause. The diagnostic difference in these diseases is the presence of sensory loss in the extremities. There are seven classifications of dHMNs, each defined by patterns of inheritance, age of onset, severity, and muscle groups involved. Type V is a disorder characterized by autosomal dominance, weakness of the upper limbs that is progressive and symmetrical, and atrophy of the small muscles of the hands.

<span class="mw-page-title-main">Charlotte Sumner</span> American neurologist

Charlotte Jane Sumner is an American neurologist. She is a professor in the Departments of Neurology and Neuroscience at Johns Hopkins School of Medicine. Dr. Sumner cares for patients with genetically mediated neuromuscular diseases and directs a laboratory focused on developing treatments for these diseases. She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics.

<span class="mw-page-title-main">Pseudohypertrophy</span> False enlargement of muscle due to infiltration of fat or other tissue

Pseudohypertrophy, or false enlargement, is an increase in the size of an organ due to infiltration of a tissue not normally found in that organ. It is commonly applied to enlargement of a muscle due to infiltration of fat or connective tissue, famously in Duchenne muscular dystrophy. This is in contrast with typical muscle hypertrophy, in which the muscle tissue itself increases in size. Because pseudohypertrophy is not a result of increased muscle tissue, the muscles look bigger but are actually atrophied and thus weaker. Pseudohypertrophy is typically the result of a disease, which can be a disease of muscle or a disease of the nerve supplying the muscle.

X-linked Charcot–Marie–Tooth disease is a group of genetic disorders and a type of Charcot–Marie–Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms.

<span class="mw-page-title-main">Shin Joong Oh</span>

Shin Joong Oh is a Korean physician who is Distinguished Professor of Neurology Emeritus at The University of Alabama at Birmingham in the United States. Oh is a clinician, researcher, and educator known for his contributions to the fields of neurology and electrodiagnostic medicine, particularly electromyography. He retired in 2014.

References

  1. 1 2 3 4 "TREAT-NMD : Mary Reilly". www.treat-nmd.eu. Retrieved 23 January 2019.
  2. ↑ "May 2017". UCD School of Medicine & Medical Science. Retrieved 23 January 2019.
  3. 1 2 3 4 UCL (24 March 2015). "Professor Mary Reilly is elected to be the first female President of the Association of British Neurologists in 83 years". UCL Queen Square Institute of Neurology. Retrieved 23 January 2019.
  4. 1 2 "May 2017". UCD School of Medicine & Medical Science. Retrieved 23 January 2019.
  5. ↑ Reilly, Mary M.; King, Rosalind H. M. (1993). "Familial Amyloid Polyneuropathy". Brain Pathology. 3 (2): 165–176. doi: 10.1111/j.1750-3639.1993.tb00741.x . ISSN   1750-3639. PMID   8293178. S2CID   22403075.
  6. ↑ Cummins, Stephen (8 March 2018). "Remembering my first boss, the great Clinical Neurologist Anita Harding, on International Women's…". Medium. Retrieved 23 January 2019.
  7. ↑ "Professor Mary M. Reilly Biography" (PDF). RCP. Retrieved 23 January 2019.
  8. ↑ Reilly, M.M.; Adams, D.; Booth, D.R.; Davis, M.B.; Said, G.; Laubriat-Bianchin, M.; Pepys, M.B.; Thomas, P.K.; Harding, A.E. (1996). "Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy". Neuromuscular Disorders. 6: 849–56. doi:10.1016/0960-8966(96)88834-1. ISSN   0960-8966. PMID   7655883. S2CID   36930164.
  9. ↑ "Prof. Mary M Reilly, UK | RE-ACT Congress". www.react-congress.org. Retrieved 23 January 2019.
  10. 1 2 "Iris View Profile". iris.ucl.ac.uk. Retrieved 23 January 2019.
  11. ↑ Reilly, Mary M. (1 April 2009). "Classification and diagnosis of the inherited neuropathies". Annals of Indian Academy of Neurology. 12 (2): 80–8. doi: 10.4103/0972-2327.53075 . ISSN   0972-2327. PMC   2812746 . PMID   20142852.
  12. ↑ Hanna, Michael G.; Reilly, Mary M. (1 December 2002). "Genetic neuromuscular disease". Journal of Neurology, Neurosurgery & Psychiatry. 73 (suppl 2): ii12–ii21. doi:10.1136/jnnp.73.suppl_2.ii12. ISSN   0022-3050. PMC   1765608 . PMID   12536154.
  13. ↑ Reilly, Mary M.; Evans, Matthew R. B.; Rossor, Alexander M. (1 June 2015). "A practical approach to the genetic neuropathies". Practical Neurology. 15 (3): 187–198. doi: 10.1136/practneurol-2015-001095 . ISSN   1474-7758. PMID   25898997.
  14. ↑ Reilly, Mary M.; Murphy, Sinéad M.; Laurá, Matilde (2011). "Charcot-Marie-Tooth disease". Journal of the Peripheral Nervous System. 16 (1): 1–14. doi: 10.1111/j.1529-8027.2011.00324.x . ISSN   1529-8027. PMID   21504497. S2CID   19868015.
  15. 1 2 3 4 "First clinical trial for Charcot Marie Tooth Disease". www.musculardystrophyuk.org. Retrieved 23 January 2019.
  16. ↑ Consortium (INC), Inherited Neuropathy; Züchner, Stephan; Reilly, Mary M.; Antonellis, Anthony; Yang, Xiang-Lei; Speziani, Fiorella; Hadjivassilious, Marios; Yo-Tsen, Liu; Guo, Min (1 November 2013). "Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2". J Neurol Neurosurg Psychiatry. 84 (11): 1247–1249. doi:10.1136/jnnp-2013-305049. ISSN   0022-3050. PMC   3796032 . PMID   23729695.
  17. ↑ Oates, Emily C.; Rossor, Alexander M.; Hafezparast, Majid; Gonzalez, Michael; Speziani, Fiorella; MacArthur, Daniel G.; Lek, Monkol; Cottenie, Ellen; Scoto, Mariacristina (6 June 2013). "Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia". American Journal of Human Genetics. 92 (6): 965–973. doi:10.1016/j.ajhg.2013.04.018. ISSN   0002-9297. PMC   3675232 . PMID   23664120.
  18. ↑ Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Rasic, Vedrana Milic (6 November 2014). "Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2". American Journal of Human Genetics. 95 (5): 590–601. doi:10.1016/j.ajhg.2014.10.002. ISSN   0002-9297. PMC   4225647 . PMID   25439726.
  19. ↑ "Working in partnership - Muscular Dystrophy UK". www.musculardystrophyuk.org. Retrieved 23 January 2019.
  20. 1 2 Morrow, Jasper M; Sinclair, Christopher D J; Fischmann, Arne; Machado, Pedro M; Reilly, Mary M; Yousry, Tarek A; Thornton, John S; Hanna, Michael G (January 2016). "MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study". The Lancet. Neurology. 15 (1): 65–77. doi:10.1016/S1474-4422(15)00242-2. ISSN   1474-4422. PMC   4672173 . PMID   26549782.
  21. 1 2 Staff, M. D. A. (9 July 2018). "Critical Biomarker Development for CMT Receives $1 Million Boost from MDA". MDA. Retrieved 23 January 2019.
  22. ↑ Reilly, Mary M.; Shy, Michael E.; Thornton, John S.; Nopoulos, Peggy; Hanna, Michael G.; Yousry, Tarek A.; Shah, Sachit; Thedens, Daniel; Sinclair, Christopher D. J. (18 September 2018). "Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A". Neurology. 91 (12): e1125–e1129. doi:10.1212/WNL.0000000000006214. ISSN   0028-3878. PMC   6161551 . PMID   30120135.
  23. ↑ "MDA Funds Development of a Critical Biomarker for Charcot Marie Tooth Disease". Muscular Dystrophy Association. 9 July 2018. Retrieved 23 January 2019.
  24. ↑ "Mary Reilly, MD, FRCP, FRCPI | Neuropathy Commons". neuropathycommons.org. Retrieved 23 January 2019.
  25. ↑ "Neuromuscular disease". www.uclh.nhs.uk. Retrieved 23 January 2019.
  26. 1 2 Muscular Dystrophy UK, Professor Mary Reilly talks about the development of treatments for Charcot-Marie-Tooth disease. , retrieved 23 January 2019
  27. ↑ "Mary M. Reilly - Head, Professor, Consultant of Neurology in London, England, United Kingdom | eMedEvents". www.emedevents.com. Retrieved 23 January 2019.
  28. ↑ Murphy, Sinéad M.; Laurá, Matilde; Reilly, Mary M. (1 January 2013). "DNA testing in hereditary neuropathies". In Said, Gérard; Krarup, Christian (eds.). Chapter 12 - DNA testing in hereditary neuropathies. Peripheral Nerve Disorders. Vol. 115. Elsevier. pp. 213–232. doi:10.1016/B978-0-444-52902-2.00012-6. ISBN   9780444529022. PMID   23931782.{{cite book}}: |journal= ignored (help)
  29. ↑ Manji, Hadi; Turner, Chris; Evans, Matthew R. B., eds. (2017). Neuromuscular Disease. doi:10.1007/978-1-4471-2389-7. ISBN   978-1-4471-2388-0.
  30. ↑ Mahdi-Rogers, Mohamed; Laurá, Matilde; Reilly, Mary M. (2017), Manji, Hadi; Turner, Chris; Evans, Matthew R. B. (eds.), "A Woman Who Could Not Wear High Heels", Neuromuscular Disease : Case Studies from Queen Square, Springer London, pp. 3–6, doi:10.1007/978-1-4471-2389-7_1, ISBN   9781447123897
  31. ↑ "Interview with Mary Reilly - President of the Peripheral Nerve society (PNS)". eanpages - News Blog of the European Academy of Neurology. 7 July 2017. Retrieved 23 January 2019.
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