Rachel Thompson
Biography
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.
Recent Publications
Estévez-Arias, B, Matalonga, L, Yubero, D, Polavarapu, K, Codina, A, Ortez, C et al.. Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases. Eur J Hum Genet. 2024. PMID:39333429
Kastreva, K, Chamova, T, Blagoeva, S, Bichev, S, Mihaylova, V, Meyer, S et al.. Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit. J Neuromuscul Dis. 2024.11 (5)1011-1020 PMID:38995797
Natera-de Benito, D, Pugliese, A, Polavarapu, K, Guergueltcheva, V, Tournev, I, Todorova, A et al.. Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. Pediatr Neurol. 2024.157 5-13 PMID:38833907
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
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