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.

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Recent publications

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. 2019. 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

Wood, L, Cordts, I, Atalaia, A, Marini-Bettolo, C, Maddison, P, Phillips, M et al.. The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research. J. Neurol. 2017.264 (5)979-988 PMID:28397002

Otto, C, Steffensen, BF, Højberg, AL, Barkmann, C, Rahbek, J, Ravens-Sieberer, U et al.. Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries. J. Neurol. 2017.264 (4)709-723 PMID:28175989

Vry, J, Gramsch, K, Rodger, S, Thompson, R, Steffensen, BF, Rahbek, J et al.. European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences. J Neuromuscul Dis. 2016.3 (4)517-527 PMID:27911335

Köhler, S, Vasilevsky, NA, Engelstad, M, Foster, E, McMurry, J, Aymé, S et al.. The Human Phenotype Ontology in 2017. Nucleic Acids Res. 2017.45 (D1)D865-D876 PMID:27899602

Thompson, R, Straub, V. Limb-girdle muscular dystrophies - international collaborations for translational research. Nat Rev Neurol. 2016.12 (5)294-309 PMID:27033376

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