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From practical investigations to secondary research studies, our Ulster-RARE teams engage in world-class research that make ground-breaking contributions to rare disease - read through some of our most recent areas of study.

Research Papers

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010–2017

Morris, J., Orioli, I. M., Benavides-Lara, A., de la Paz Barboza-Arguello, M., Tapia, M. A. C., de França, G. V. A., Groisman, B., Holguin, J., Hurtado-Villa, P. M., Ibarra Ramirez, M., Mellado, C., Pardo, R., Pastora Bucardo, D. M., Rodríguez, C., Zarante, I., Limb, E. & Dolk, H., 23 Nov 2021, (E-pub ahead of print) In: BMJ Paediatrics Open. 5, 1, e001235.

Published: 23 Nov, 2021

The legacy of ZikaPLAN: a transnational research consortium addressing Zika

Wilder-smith, A., Brickley, E. B., Ximenes, R. A. D. A., Miranda-filho, D. D. B., Turchi Martelli, C. M., Solomon, T., Jacobs, B. C., Pardo, C. A., Osorio, L., Parra, B., Lant, S., Willison, H. J., Leonhard, S., Turtle, L., Brito Ferreira, M. L., Freitas de Oliveira Franca, R., Lambrechts, L., Neyts, J., Kaptein, S., Peeling, R. & 9 others, , 12 Nov 2021, (Accepted/In press) In: Global Health Action.

Published: 12 Nov, 2021

Ten-Year Survival of Children with Congenital Anomalies: A European Cohort Study

Glinianaia, S., Rankin, J., Pierini, A., Coi, A., Santoro, M., Tan, J., Reid, A., Ester, G., Loane, M., Given, J., Cavero-Carbonell, C., de Walle, H. E. K., Gatt, M., Gissler, M., Heino, A., Khoshnood, B., Klungsøyr, K., Lelong, N., Neville, A., Thayer, D. & 5 others, , 11 Nov 2021, (Accepted/In press) In: Pediatrics.

Published: 11 Nov, 2021

Epidemiology and Survival Trends of Motor Neurone Disease in Northern Ireland

54: McCluskey G, Duddy W, Haffey S, Morrison K, Donaghy C, Duguez S. Epidemiology and Survival Trends of Motor Neurone Disease in Northern Ireland from 2015-2019. Eur J Neurol. 2021 Nov 8. doi: 10.1111/ene.15172. Epub ahead of print. PMID: 34748676.

Published: 8 November 2021

Exosomes in Ageing and Motor Neurone Disease: Biogenesis, Uptake Mechanisms, Modifications in Disease and Uses in the Development of Biomarkers and Therapeutics

Anakor E, Le Gall L, Dumonceaux J, Duddy WJ, Duguez S.  Cells. 2021 Oct 28;10(11):2930. doi: 10.3390/cells10112930. PMID: 34831153; PMCID: PMC8616058.

Published: 28 October 2021

RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy

53: Mariot V, Joubert R, Le Gall L, Sidlauskaite E, Hourde C, Duddy W, Voit T, Bencze M, Dumonceaux J. RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy. J Cachexia Sarcopenia Muscle. 2021 Oct 22. doi: 10.1002/jcsm.12813. Epub ahead of print. PMID: 34687171.

Published: 22 October 2021

Multiplex Screening for Interacting Compounds in Paediatric Acute Myeloid Leukaemia

Cairns LV, Lappin KM, Mutch A, Ali A, Matchett KB, Mills KI. International Journal of Molecular Sciences, 2021, 22:10163.

Published: 21 Sep, 2021

A20 controls expression of beta-cell regulatory genes and transcription factors.

Ratajczak W, Atkinson SD, Kelly C. J Mol Endocrinol. 2021 Sep 28;67(4):189-201. doi: 10.1530/JME-21-0076. PMID: 34463643.

Published: 28 Sep, 2021

Clinical, etiopathogenic, and therapeutic aspects of KID syndrome

Cammarata-Scalisi, F., Willoughby, C. E., Cárdenas Tadich, A., Labrador, N., Herrera, A. & Callea, M., 28 Aug 2020, In: Dermatologic Therapy. 33, 4, e13507.

Published: 28 Aug, 2021

Linking a European cohort of children born with congenital anomalies to vital statistics and mortality records: a EUROlinkCAT study

Loane, M., Given, J., Tan, J., Reid, A., Akhmedzhanova, D., Astolfi, G., Barišić, I., Bertille, N., Bonet, LB., Cavero-Carbonell, C., Mokoroa Carollo, O., Coi, A., Densem, J., Draper, E., Garne, E., Gatt, M., Glinianaia, SV., Heino, A., Den Hond, E., Jordan, S. & 18 others, , 27 Aug 2021, (E-pub ahead of print) In: PLoS ONE. 16, 8, 15 p., e0256535.

Published: 27 Aug, 2021

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

52: Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C. Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity. Sci Adv. 2021 Aug 20;7(34):eabi6896. doi: 10.1126/sciadv.abi6896. PMID: 34417184; PMCID: PMC8378820.

Published 20th Aug,  2021

Signal detection in EUROmediCAT: Identification and evaluation of medication-congenital anomaly associations and use of VigiBase as a complementary source of reference.

Cavadino, A., Sandberg, L., Öhman, I., Bergvall, T., Star, K., Dolk, H. & Loane, M., 31 Jul 2021, In: Drug Safety. 44, 7, p. 765-785 21 p.

Published: 31 Jul, 2021

A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

Cammarata-Scalisi, F., Matysiak, U., Willoughby, C. E., Ruzaike, G., Cárdenas Tadich, A., Araya Castillo, M., Zara-Chirinos, C., Bracho, A., Avendaño, A., Jilani, H. & Callea, M., 26 Jul 2021, (E-pub ahead of print) In: Journal of Pediatric Geneti

Published: 26 Jul, 2021

Optimized Molecular Interaction Networks for the Study of Skeletal Muscle

50: Morgan S, Malatras A, Duguez S, Duddy W. Optimized Molecular Interaction Networks for the Study of Skeletal Muscle. J Neuromuscul Dis. 2021 Jul 19. doi: 10.3233/JND-210680. Epub ahead of print. PMID: 34308911.

Published: 19 Jul, 2021

eSkip-Finder: a machine learning-based web application and database to identify the optimal sequences of antisense oligonucleotides for exon skipping

49: Chiba S, Lim KRQ, Sheri N, Anwar S, Erkut E, Shah MNA, Aslesh T, Woo S, Sheikh O, Maruyama R, Takano H, Kunitake K, Duddy W, Okuno Y, Aoki Y, Yokota T. eSkip-Finder: a machine learning-based web application and database to identify the optimal sequences of antisense oligonucleotides for exon skipping. Nucleic Acids Res. 2021 Jul 2;49(W1):W193-W198. doi: 10.1093/nar/gkab442. PMID: 34104972; PMCID: PMC8265194.

Published: 2 Jul, 2021

EUROlinkCAT Protocol for a European population-based data linkage study investigating the survival, morbidity and education of children with congenital anomalies

Morris, J. K., Garne, E., Loane, M., Barišić, I., Densem, J., Latos-Bieleńska, A., Neville, A., Pierini, A., Rankin, J., Rissmann, A., de Walle, H. E. K., Tan, J., Given, J. & Claridge, H., 28 Jun 2021, (E-pub ahead of print) In: BMJ Open. 11, 6, 14 p., e047859.

Published: 28 June, 2021

Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function

48: Duddy WJ, Duguez S. Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function. J Pers Med. 2021 May 20;11(5):438. doi: 10.3390/jpm11050438. PMID: 34065209; PMCID: PMC8161133.

Published: 20 May, 2021

Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings

Dolk, H., Leke, A. Z., Whitfield, P., Moore, R., Karnell, K., Barišić, I., Barlow‐Mosha, L., Botto, L. D., Garne, E., Guatibonza, P., Godfred‐Cato, S., Halleux, C. M., Holmes, L. B., Moore, C. A., Orioli, I., Raina, N. & Valencia, D., 5 May 2021, (E-pub ahead of print) In: Birth Defects Research. 17 p.Published:5 May, 2021

Macrolide and lincosamide antibiotic exposure in the first trimester of pregnancy and risk of congenital anomaly: A European case-control study

Leke, A., Dolk, H., Loane, M., Casson, K., Nelen, V., Barisic, I., Ester, G., Rissmann, A., O'Mahony, M., Neville, A., Pierini, A., Bergman, J. E. H., Klungsoyr, K., Materna-Kiryluk, A., Latos-Bielenska, A., Cavero-Carbonell, C., Addor, M-C. & Tucker, D., 1 Mar 2021, In: Reproductive Toxicology. 100, p. 101-108 8 p.

Published: 1 Mar, 2021

The Latin American network for congenital malformation surveillance: ReLAMC

Orioli, I., Dolk, H., Lopez-Camelo, J., Groisman, B., Benavides-Lara, A., Gabriel Gimenez, L., Mattos Correa, D., Ascurra, M., de Aquino Bonilha, E., Aurora Canessa-Tapia, M., Vinícius Araújo de França, G., Hurtado-Villa, P., Ibarra-Ramírez, M., Pardo, R., Maria Pastora, D., Zarante, I., Schneider Soares, F., Martinez de Carvalho, F. & Piola, M., 30 Dec 2020, In: American Journal of Medical Genetics. 184, 4, p. 1078-1091 14 p., 184C.

Published: 30 Dec, 2020

What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis?

47: Vasilopoulou C, Morris AP, Giannakopoulos G, Duguez S, Duddy W. What Can Machine Learning Approaches in Genomics Tell Us about the Molecular Basis of Amyotrophic Lateral Sclerosis? J Pers Med. 2020 Nov 26;10(4):247. doi: 10.3390/jpm10040247. PMID: 33256133.

Published: 26 November, 2020

A compound combination screening approach with potential to identify new treatment options for paediatric acute myeloid leukaemia

Lappin KM, Davis L, Matchett KB, Ge Y, Mills KI, Blayney JK. Scientific Reports, 2020; 10:18514.

Published: 28 Oct, 2020

In Vivo Confocal Microscopy Morphologic Features and Cyst Density in Acanthamoeba Keratitis.

Chopra R, Mulholland PJ, Hau SC.  Am J Ophthalmol. 2020 Sep;217:38-48.

Published: Sept, 2020

Clinical, etiopathogenic, and therapeutic aspects of KID syndrome

Cammarata-Scalisi, F., Willoughby, C. E., Cárdenas Tadich, A., Labrador, N., Herrera, A. & Callea, M., 28 Aug 2020, In: Dermatologic Therapy. 33, 4, e13507.

Published: 28 Aug, 2020

Membranous aplasia cutis congenita in trisomy 18

Cammarata-Scalisi, F., Diociaiuti, A., De Guerrero, B., Willoughby, C. E. & Callea, M., 27 Aug 2020, In: Italian Journal of Pediatrics. 46, 1, 120.

Published: 27 Aug, 2020

Molecular and Cellular Mechanisms Affected in ALS

46: Le Gall L, Anakor E, Connolly O, Vijayakumar UG, Duddy WJ, Duguez S. Molecular and Cellular Mechanisms Affected in ALS. J Pers Med. 2020 Aug 25;10(3):E101. doi: 10.3390/jpm10030101. PMID: 32854276.

Published: 25 August, 2020

Optimized method for extraction of exosomes from human primary muscle cells. Skelet Muscle

45: Le Gall L, Ouandaogo ZG, Anakor E, Connolly O, Butler Browne G, Laine J, Duddy W, Duguez S. Optimized method for extraction of exosomes from human primary muscle cells. Skelet Muscle. 2020 Jul 8;10(1):20. doi: 10.1186/s13395-020-00238-1. PMID: 32641118; PMCID: PMC7341622.

Published: 8 July, 2020

Maternal risk factors for the VACTERL association: a EUROCAT case-control study

van de Putte, R., van Rooij, ALM., Haanappel, CP., Marcelis, CLM., Brunner, HG., Addor, M-C., Cavero-Carbonell, C., Dias, CM., Draper, E. S., Etxebarriarteun, L., Gatt, M., Khoshnood, B., Agnieszka, K-O., Klungsoyr, K., Kurinczuk, JJ., Latos-Bielenska, A., Luyt, K., O'Mahony, M. T., Miller, N., Mullaney, C. & 18 others, , 15 May 2020, In: Birth Defects Research (Part A). 112, 9, p. 688-698 11 p.

Published: 15 May, 2020

Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators

Best, K. E., Rankin, J., Dolk, H., Loane, M., Nelen, V., Verellen-Dumoulin, C., Garne, E., Sayers, G., Mullaney, C., O'Mahony, M. T., Gatt, M., deWalle, H., Klungsoyr, K., Mokoroa Carolla, O., Cavero-Carbonell, C., Kurinczuk, J. J., Draper, E. S., Tucker, D., Wellesley, D., Zymak-Zakutnia, N. & 2 others, , 1 Mar 2020, In: Paediatric and Perinatal Epidemiology. 34, 2, p. 122-129 8 p.

Published: 1 Mar, 2020

Short-term CFTR inhibition reduces islet area in C57BL/6 mice

Khan D, Kelsey R, Maheshwari RR, Stone VM, Hasib A, Manderson Koivula FN, Watson A, Harkin S, Irwin N, Shaw JA, McClenaghan NH, Venglovecz V, Ébert A, Flodström-Tullberg M, White MG, Kelly C. Sci Rep. 2019 Aug 2;9(1):11244. doi: 10.1038/s41598-019-47745-w. PMID: 31375720; PMCID: PMC6677757.

Published: 2 Aug, 2019

In-school eyecare in special education settings has measurable benefits for children's vision and behaviour.

Black SA, McConnell EL, McKerr L, McClelland JF, Little JA, Dillenburger K, Jackson AJ, Anketell PM, Saunders KJ. PLoS One. 2019 Aug 1;14(8):e0220480.

Published: 1 Aug, 2019

Cystic Fibrosis-Related Diabetes: Pathophysiology and Therapeutic Challenges

Kelsey R, Manderson Koivula FN, McClenaghan NH, Kelly C. . Clin Med Insights Endocrinol Diabetes. 2019 May 28;12:1179551419851770. doi: 10.1177/1179551419851770. PMID: 31191067; PMCID: PMC6539575.

Published: 28 May, 2019

Integrated analysis of the molecular action of Vorinostat identifies epi-sensitised targets for combination therapy

Hay JF, Lappin K, Liberante F, Kettyle LM, Matchett KB, Thompson A, Mills KI. Oncotarget, 2017; 8:67891-903.

Published: 15 Sep, 2017

Connectivity mapping (ssCMap) to predict A20-inducing drugs and their antiinflammatory action in cystic fibrosis.

Malcomson B, Wilson H, Veglia E, Thillaiyampalam G, Barsden R, Donegan S, El Banna A, Elborn JS, Ennis M, Kelly C, Zhang SD, Schock BC. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3725-34. doi: 10.1073/pnas.1520289113. Epub 2016 Jun 10. PMID: 27286825; PMCID: PMC4932930.

Published: 10 Jun, 2016

Islet-intrinsic effects of CFTR mutation

Koivula FNM, McClenaghan NH, Harper AGS, Kelly C.Diabetologia. 2016 Jul;59(7):1350-1355. doi: 10.1007/s00125-016-3936-1. Epub 2016 Mar 31. Erratum in: Diabetologia. 2017 Dec;60(12):2544. PMID: 27033560; PMCID: PMC4901107.

Published: 31 Mar, 2016

Are worldwide albinism prevalence figures an accurate reflection? An incidental finding from a Northern Ireland study.

Healey N, McLoone E, Saunders KJ, Jackson AJ, McClelland JF. Br J Ophthalmol. 2014 Jul;98(7):990.

Published: Jul 2014

Longitudinal study of spherical refractive error in infantile nystagmus syndrome.

Healey N, McClelland JF, Saunders KJ, Jackson AJ.  Ophthalmic Physiol Opt. 2014 May;34(3):369-75.

Published: 22 Jan, 2014

Author response: Is impaired emmetropisation related to foveal hypoplasia or is it specific to albinism?

Healey N, McLoone E, Mahon G, Jackson AJ, Saunders KJ, McClelland JF. Invest Ophthalmol Vis Sci. 2013 Jun 10;54(6):4006.

Published: 10 Jun, 2013

Investigating the relationship between foveal morphology and refractive error in a population with infantile nystagmus syndrome.

Healey N, McLoone E, Mahon G, Jackson AJ, Saunders KJ, McClelland JF. Invest Ophthalmol Vis Sci. 2013 Apr 26;54(4):2934-9.

Published: 26 Apr, 2013

Toll-like receptor 4 is not targeted to the lysosome in cystic fibrosis airway epithelial cells.

Kelly C, Canning P, Buchanan PJ, Williams MT, Brown V, Gruenert DC, Elborn JS, Ennis M, Schock BC.  Am J Physiol Lung Cell Mol Physiol. 2013 Mar 1;304(5):L371-82. doi: 10.1152/ajplung.00372.2011. Epub 2013 Jan 11. PMID: 23316065; PMCID: PMC4073939.

Published: 11 Jan, 2013

Expression of the inflammatory regulator A20 correlates with lung function in patients with cystic fibrosis.

Kelly C, Williams MT, Elborn JS, Ennis M, Schock BC.  J Cyst Fibros. 2013 Jul;12(4):411-5. doi: 10.1016/j.jcf.2012.10.009. Epub 2012 Nov 17. PMID: 23164641.

Published: 17 Nov, 2012

Expression of the nuclear factor-κB inhibitor A20 is altered in the cystic fibrosis epithelium.

Kelly C, Williams MT, Mitchell K, Elborn JS, Ennis M, Schock BC. Eur Respir J. 2013 Jun;41(6):1315-23. doi: 10.1183/09031936.00032412. Epub 2012 Sep 27. PMID: 23018911.

Published: 27 Sep, 2012