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.

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Recent publications

Polavarapu, K, O'Neil, D, Thompson, R, Spendiff, S, Nandeesh, B, Vengalil, S et al.. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects. Neuromuscul Disord. 2024.39 10-18 PMID:38669730

Núñez-Carpintero, I, Rigau, M, Bosio, M, O'Connor, E, Spendiff, S, Azuma, Y et al.. Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes. Nat Commun. 2024.15 (1)1227 PMID:38418480

Atalaia, A, Wandrei, D, Lalout, N, Thompson, R, Tassoni, A, 't Hoen, PAC et al.. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet J Rare Dis. 2024.19 (1)66 PMID:38355534

Carmody, LC, Gargano, MA, Toro, S, Vasilevsky, NA, Adam, MP, Blau, H et al.. The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease. Med. 2023.4 (12)913-927.e3 PMID:37963467

Kashyap, N, Nikhanj, A, Labib, D, Prosia, E, Rivest, S, Flewitt, J et al.. Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy. J Am Heart Assoc. 2023.12 (21)e030229 PMID:37929714

Pugliese, A, Della Marina, A, de Paula Estephan, E, Zanoteli, E, Roos, A, Schara-Schmidt, U et al.. Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series. J Neurol. 2024.271 (3)1331-1341 PMID:37923938

Polavarapu, K, Sunitha, B, Töpf, A, Preethish-Kumar, V, Thompson, R, Vengalil, S et al.. Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. Brain. 2024.147 (1)281-296 PMID:37721175

Carmody, LC, Gargano, MA, Toro, S, Vasilevsky, NA, Adam, MP, Blau, H et al.. The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease. medRxiv. 2023. PMID:37503136

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

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