Rachel Thompson

Postdoctoral Research Fellow

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Rachel completed her Master’s degree in Chemistry at Oxford University under Hazel Rossotti and Allan Chapman and her PhD on data sharing and integration in rare inherited neuromuscular diseases at Newcastle University in the UK under Hanns Lochmüller and Paolo Missier. Her research interests lie in the use of data integration methods for medical genomics and precision medicine in neuromuscular diseases. She came to academic research through a career in scientific management and communications in which she was responsible for the coordination of European collaborative projects, in particular the RD-Connect data sharing and analysis platform and the TREAT-NMD neuromuscular network. After successfully defending her thesis in May 2019, Rachel joined the Lochmüller Lab in Ottawa as a postdoctoral fellow, and continues to collaborate closely with colleagues in Europe (CNAG in Barcelona, the ‘t Hoen group in Nijmegen), and the Robinson group at Jackson Laboratories. In April 2020 Rachel was awarded a postdoctoral fellowship from the Canadian Institutes of Health Research.

Rachel

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Recent publications

Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L et al.. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet J Rare Dis. 2020.15 (1)206 PMID:32787960

Matalonga, L, Laurie, S, Papakonstantinou, A, Piscia, D, Mereu, E, Bullich, G et al.. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. J Mol Diagn. 2020.22 (9)1205-1215 PMID:32619640

Thompson, R, Spendiff, S, Roos, A, Bourque, PR, Warman Chardon, J, Kirschner, J et al.. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol. 2020.19 (6)522-532 PMID:32470424

Landfeldt, E, Thompson, R, Sejersen, T, McMillan, HJ, Kirschner, J, Lochmüller, H et al.. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur J Epidemiol. 2020.35 (7)643-653 PMID:32107739

Savarese, M, Johari, M, Johnson, K, Arumilli, M, Torella, A, Töpf, A et al.. Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. J Neuromuscul Dis. 2020.7 (2)153-166 PMID:32039858

Töpf, A, Oktay, Y, Balaraju, S, Yilmaz, E, Sonmezler, E, Yis, U et al.. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet. 2020.28 (3)383-387 PMID:31558842

Sergouniotis, PI, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A et al.. Correction to: An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet J Rare Dis. 2019.14 (1)200 PMID:31416457

Thompson, R, Papakonstantinou Ntalis, A, Beltran, S, Töpf, A, de Paula Estephan, E, Polavarapu, K et al.. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder. Hum Mutat. 2019.40 (10)1797-1812 PMID:31231902

Thompson, R, Bonne, G, Missier, P, Lochmüller, H. Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. Emerg Top Life Sci. 2019.3 (1)19-37 PMID:30931400

Sergouniotis, PI, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A et al.. An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet J Rare Dis. 2019.14 (1)8 PMID:30626441

Thompson, R, Abicht, A, Beeson, D, Engel, AG, Eymard, B, Maxime, E et al.. A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. Orphanet J Rare Dis. 2018.13 (1)211 PMID:30477555

Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, JOB, Danis, D, Gourdine, JP et al.. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 2019.47 (D1)D1018-D1027 PMID:30476213

Owen, D, Töpf, A, Preethish-Kumar, V, Lorenzoni, PJ, Vroling, B, Scola, RH et al.. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Am J Med Genet A. 2018.176 (7)1594-1601 PMID:29704306

Wood, L, Bassez, G, van Engelen, B, Lochmüller, H, Schoser, B, 222nd ENMC workshop participants et al.. 222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016. Neuromuscul Disord. 2018.28 (5)463-469 PMID:29550152

Lochmüller, H, Badowska, DM, Thompson, R, Knoers, NV, Aartsma-Rus, A, Gut, I et al.. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur J Hum Genet. 2018.26 (6)778-785 PMID:29487416

Thompson, R, Robertson, A, Lochmüller, H. Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. Adv Exp Med Biol. 2017.1031 97-124 PMID:29214567

Baynam, G, Bowman, F, Lister, K, Walker, CE, Pachter, N, Goldblatt, J et al.. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework. Adv Exp Med Biol. 2017.1031 55-94 PMID:29214566

Sernadela, P, González-Castro, L, Carta, C, van der Horst, E, Lopes, P, Kaliyaperumal, R et al.. Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. Biomed Res Int. 2017.2017 8327980 PMID:29214177

Roos, A, Thompson, R, Horvath, R, Lochmüller, H, Sickmann, A. Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases. Proteomics Clin Appl. 2018.12 (2) PMID:29059504

White, SJ, Laros, JFJ, Bakker, E, Cambon-Thomsen, A, Eden, M, Leonard, S et al.. Critical points for an accurate human genome analysis. Hum Mutat. 2017.38 (8)912-921 PMID:28471515

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