Dr Amelia Shoemark completed her PhD in respiratory medicine at the National, Heart and Lung Institute, Imperial College London. Her PhD work investigated inflammation in the lungs of patients with the chronic respiratory condition bronchiectasis helping to define causes of the disease (http://www.nhs.uk/conditions/bronchiectasis/).
In her role as lead clinical scientist at the Royal Brompton Hospital Amelia developed a specialist interest in an inherited cause of bronchiectasis, Primary Ciliary Dyskinesia (PCD) (http://pcdsupport.org.uk/). She set up and led a nationally funded laboratory for the diagnosis of Primary Ciliary Dyskinesia from 2007-2017, a position she still holds part time. Her translational research interests, funded by a personal post-doctoral fellowship from the National Institute of Health Research (NIHR) brought new reliable and affordable tests for PCD with improved diagnostic sensitivity. These included the development of a clinically validated panel of immunofluorescent antibodies, development of 3D electron microscopy and in close collaboration with Dr Hannah Mitchison at University College London the identification of more than 10 of the genes now known to cause PCD. These translational areas of research have led to numerous publications in high impact journals and a national role out of novel techniques to enhance the diagnostic accuracy for all patients in the UK.
Amelia joined the Chalmers lab at the University of Dundee as a post-doctoral scientist in 2017 to conduct research into bronciectasis supported by the British Lung Foundation (https://www.blf.org.uk/). With Prof. Chalmers Amelia will run a 5 year program of research using state-of-the-art laboratory techniques to understand the different patterns of lung inflammation and infection in bronchiectasis patients and to assess the role of cilia in disease. The team will work closely with other world-leading researchers in the EMBARC European Bronchiectasis Registry, a pan-European network committed to promoting clinical research and education in bronchiectasis (https://www.bronchiectasis.eu/)
Bronchiectasis is a long term lung condition in which repeated infections and inflammation widen the airways and permanently scar the lungs. This can result in coughing up mucus (or phlegm), breathlessness and repeated chest infections. There are several medications available to help treat the symptoms of bronchiectasis but there is little evidence for which patients will benefit from which treatments. The focus of Dr Shoemark’s research in Dundee is to understand the different patterns of lung inflammation and infection in bronchiectasis patients with an aim to improving treatment.
An area of specialist interest is cilia function. Cilia are small hair-like structures which line the airways. The job of the cilia is to move in a co-ordinated way wafting mucus away from the chest and keeping the airways clear of infection. A slow motion video of cilia beating normally can be seen below.
Through the investigation of; the role of cilia beating, the diversity of bacteria in the lung and identification small molecular markers the group hope to be able to better target individual patient treatments.
Lectures and conferences
As an international expert on cilia disease Amelia is frequently asked to chair and speak at international conferences. In 2017 highlights have included; a plenary lecture at the European PCD conference in Valencia, Spain, an invited lecture at the Pathological society of Great Britain in Belfast and multiple research presentations at the European Respiratory Society conference in Sept in Madrid.
Upcoming presentations include the British Thoracic Society winter meeting in Westminster and at the Natural History Museum winter microscopy meeting in London in December.
Publication highlights of 2017 to date include 3 first author original articles in journals respected within the field of respiratory research (*). These publications result from work funded by a personal fellowship awarded by the National Institute of Health Research and have direct translational value, impacting national and international policy for diagnosis of the inherited respiratory condition Primary Ciliary Dyskinesia (PCD).
Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017 Jan 4;49(1).
*Shoemark A, Moya E, Hirst R, Lodge E, Patel M, Dixon M, Patel-King R, Rogers AV, Jackson C, Goggin P, Ollosson S, Carr S, Walker W, Adler B, Loebinger M, Wilson R, Bush A, Watson C, Lucas J,O’Callaghan C, Taylor P, Sheridan E, King S, Hogg C, Mitchison H. CCDC103 H154P di-oligomerization mutation causing Primary Ciliary Dyskinesia is common in UK South Asians with normal diagnostic investigations Thorax (Accepted - In press)
Irving S, Carr S, Hogg C, Loebinger M, Shoemark A, Bush A. Lung Clearance Index (LCI) is Stable in Most Primary Ciliary Dyskinesia (PCD) Patients Managed in a Specialist Centre: a Pilot Study. Lung. 2017 Aug;195(4):441-3
*Shoemark A, Frost E, Dixon M, Ollosson S, Kilpin K, Patel M, Scully J, Rogers AV, Mitchison HM, Bush A, Hogg C. Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. Am J Respir Crit Care Med. 2017 Feb 15. 196(1):94-101.
*Olcese C1, Patel MP1, Shoemark A1, (11st author equal contribution) Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nat Commun. 2017 Feb 8;8:14279.
Munye MM, Shoemark A, Hirst RA, Delhove JM, Sharp TV, McKay TR, O'Callaghan C, Baines DL, Howe SJ, Hart SL. BMI-1 extends proliferative potential of human bronchial epithelial cells while retaining their mucociliary differentiation capacity. Am J Physiol Lung Cell Mol Physiol. 2017 Feb 1;312(2):L258-L267.
Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, Hansell DM, Wilson R, Loebinger MR. A longitudinal study characterising a large adult primary ciliary dyskinesia population. Eur Respir J. 2016 Aug;48(2):441-50
Shoemark A, Dixon M, Beales P, Hogg C. Bardet Biedl Syndrome: Motile ciliary phenotype. Chest 2015 147:764-770
Gielen V, Sykes A, Zhu J, Chan B, Macintyre J, Regamey N, Kieninger E, Gupta A, Shoemark A, Bossley C, Davies J, Saglani S, Walker P, Nicholson SE, Dalpke AH, Kon OM, Bush A, Johnston SL, Edwards MR Increased nuclear suppressor of cytokine signaling 1 in asthmatic bronchial epithelium suppresses rhinovirus induction of innate interferons., J Allergy Clin Immunol 2015 Jul;136(1):177-88
Nair C, Shoemark A, Chan M, Ollosson S, Dixon M, Hogg C, Alton E, Davies JC, Williams HD. Ciliary inhibition in respiratory epithelia by cyanide concentrations found in the infected Cystic Fibrosis airway. Eur Respir J. 2014 44: 1253-1261
Onoufriadis A, Shoemark A, Schmidts M, Patel M,Jiminez G, Dixon M, Hirst R, Rutman R, Burgoyne T, Scully J, Williams C, Bollard F, Beales PL, Yang P,Hogg C, Emes RD, Chung EMK, O Callaghan C, Bouvagnet P, Mitchison HM. Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects. Hum Mol Gen 2014 23: 3362-3374
Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EMK, Mitchison HM. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of Medical Genetics. 2014 51:61-67
Diggle C, Moore D, Mali G, Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Munoz G, Halachev M, Gautier P, Yeyati P, Bonthron D, Carr I, Hayward B, Markham A, Hope J, Kriegsheim A, Mitchison H, Jackson I, Durand B, Reith W, Sheridan E, Jarman A, Pleasantine M. HEATR2 Plays a Conserved Role in Assembly of The Ciliary Motile Apparatus PLOS Genetics. 2014 Sep;10(9):e1004577
Burgoyne T, Lewis A, Dewar A, Luther P, Hogg C, Shoemark A Dixon M. Characterizing the Ultrastructure of Primary Ciliary Dyskinesia transposition defect using Electron Tomography. Cytoskeleton 2014 71: 294–301.
Moore D, Onoufriadis A, Shoemark A, Simpson M, Lage P, Castro S, Bartoloni L, Gallone G, Petridi S, Woolard W, Anthony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan N, Djakow J, Pals G, Lucas J, Marthin J, Nielsen K, Santoni F, Guiponni M, Hogg C, Antonarakis S, Emes R, Chung E, Greene N, Blouin J, Jarman A, Mitchison H. Mutations in ZMYND10, a gene essential for proper assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. American Journal Human Genetics. 2013 93(2): 346-356.
Davidson A , Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis P, Waseem N, Wilson R, Kahn R, Plagnol V, Wolfrum U, Banin E, Hardcastle A, Cheetham M, Sharon D and Webster A. Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. American Journal Human Genetics. 2013 93(2): 321-329
Antony D, Becker-Heck A, Zariwala M, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels MLA, Noone PG, Ferkol TW, Sagal SD, Rosenfeld M, Rutman A, Dixit A,O'Callaghan C, Lucas JS, Hogg C, Emes RD, Chung EMK, Shoemark A, Knowles MR, Omran H, Mitchison HM. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms. Human Mutation. 2013 34(3), 462-472
Edwards M, Regamey N, Varielle M, Kieninger, Gupta A, Shoemark A, Saglani S, Sykes A, Macintyre J, Davies J, Bossley C, Bush A and Johnston S. Impaired innate interferon induction in severe therapy resistant atopic asthmatic children. Mucosal Immunity 2013 6(4): 797-806.
Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse J, Harrman EG, Daniels JMA, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EMK, Pals G, Mitchison HM. Splice site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. American Journal Human Genetics. 2012 92(1), 88-98
Burgoyne T; Dixon M; Luther P; Hogg C; Shoemark A.Generation of a Three Dimensional Ultrastructural Model of Human Respiratory Cilia. Am J Respir Cell Mol Biol. 2012 May;71(5):294-301.
Shoemark A; Dixon M; Corrin B; Dewar A. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. J Clin Pathol. 2012 65:267-271.
Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H. Recessive HYDIN mutations Cause PCD without randomisation of Left-Right Boday Asymmetry. Am J Hum Genet. 2012 5;91(4):672-84.
Griesenbach U; Inoue M; Meng C; Farley R; Chan M; Newman NK; Brum A; You J;Kerton A; Shoemark A; Boyd AC; Davies JC; Higgins TE; Gill DR; Hyde SC; Innes JA; Porteous DJ; Hasegawa M; Alton EW. Assessment of F/HN-Pseudotyped Lentivirus as a Clinically Relevant Vector for Lung Gene Therapy. Am J Respir Crit Care Med. 2012 Nov 01;186(9):846-56.
Olm MAK; Koegler JE; Macchione M; Shoemark A; Saldiva PHN; Rodrigues JC. Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images. Journal of Applied Physiology. 2011 111:295-302.
Shoemark A; Devaraj A; Meister M; Ozerovitch L; Hansell DM; Wilson R. Elevated peripheral airway nitric oxide in bronchiectasis reflects disease severity. Respir Med. 2011 105:885-891.
Shoemark A; Wilson R. Exhaled Breath Condensate pH as a Non-invasive Measure of Inflammation in Non-CF Bronchiectasis. ISRN Pulmonology ID 169080 2010
Smith VM; Shoemark A; Nisbet M; Wilson R. When to think of bronchiectasis and the investigations to perform. Clinical Pulmonary Medicine. 2010 1:7-13.
Shoemark A; Wilson R Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis. Respir Med. 2009 103:700-706.
Castleman VH; Romio L; Chodhari R; Hirst RA; de Castro SCP; Parker KA; Ybot-Gonzalez P; Emes RD; Wilson SW; Wallis C; Johnson CA; Herrera RJ; Rutman A; Dixon M; Shoemark A; Bush A; Hogg C; Gardiner RM; Reish O; Greene NDE; O'Callaghan C; Purton S; Chung EMK; Mitchison HM. Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities. American Journal of Human Genetics. 2009 84:197-209.
Ryall B; Davies JC; Wilson R; Shoemark A; Williams HD. (2008).Pseudomonas aeruginosa, cyanide accumulation and lung function in CF and non-CF bronchiectasis patients. Eur Respir J. 2008 32:740-747.
Loebinger MR; Shoemark A; Berry M; Kemp M; Wilson R. Procalcitonin in stable and unstable patients with bronchiectasis. Chron Respir Dis. 2008 5:155-160.
Shoemark A; Ozerovitch L; Wilson R. Aetiology in adult patients with bronchiectasis. Respir Med. 2007 101:1163-1170.
Shoemark A. Ciliary disorders Chapter 14. In: Essentials of diagnostic Electron microscopy in Pathology Springer ed. Lloreta JL 2017 (In press)
Ives A, Dixon M, Shoemark A, Jaffee A , Hogg C . Primary Ciliary Dyskinesia, In: Paediatric Aerodigestive disorders ed. Haver, Brigger, Hardy, Hartnick
Invited reviews, letters and editorials
Shoemark A, Hogg C. Basic Science for the chest physician. Electron Tomography of respiratory cilia Thorax 2014 68:190-191
Shoemark A, Dixon M. Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics. 2017 Ultrastructural pathology
Shoemark A, Applications of emerging transmission electron microscopy technology in PCD research and diagnosis. 2017 Ultrastructural pathology.
Shoemark A. Haemophilus influenzae biofilms in primary ciliary dyskinesia: A moving story Editorial ERJ Sept 2017
Lucas JS, Evans H, Haarman EG, Hirst RA, Hogg C, Jackson CL, Nielson KG, Omran H, Papon JF, Robinson P, Shoemark A, Walker W. Exploring the art of ciliary beating: the benefits of high-speed video analysis. 2017