Rachel Thompson
Postdoctoral Research Fellow
Email RachelRachel 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.
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Recent publications
Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (7)4164 PMID:36941504
Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (5)2602-2618 PMID:36692708
Laurie, S, Piscia, D, Matalonga, L, Corvó, A, Fernández-Callejo, M, Garcia-Linares, C et al.. The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Hum Mutat. 2022.43 (6)717-733 PMID:35178824
Estephan, EP, Zambon, AA, Thompson, R, Polavarapu, K, Jomaa, D, Töpf, A et al.. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis. Eur J Neurol. 2022.29 (3)833-842 PMID:34749429
Atalaia, A, Thompson, R, Corvo, A, Carmody, L, Piscia, D, Matalonga, L et al.. Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome. Orphanet J Rare Dis. 2021.16 (1)145 PMID:33752678
Manta, A, Spendiff, S, Lochmüller, H, Thompson, R. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. J Neuromuscul Dis. 2021.8 (3)401-417 PMID:33720849
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
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