Spotlight on....Chris Record

Spotlight on: UCL ICGNMD Fellow Dr Chris Record.

Clinical Neurologist Dr Chris Record recently completed his ICGNMD/NIH Joint Fellowship, supervised by Professor Mary Reilly, Dr Alex Rossor and Dr Andrea Cortese at the UCL Queen Square Centre for Neuromuscular Diseases (QS CNMD).  We asked him to reflect on his experience.  Chris said: “My project on the clinical genomics of inherited neuropathies has given me excellent insight into the power and limitations of the genomic testing, specifically whole genome sequencing, applied to Charcot-Marie-Tooth disease (CMT) and other inherited neuromuscular diseases. I’ve been privileged to work with world-leading clinical academics and to have experience of the phenotypes and genetics of a broad range of neuromuscular diseases through the ICGNMD and NIH consortia, including the extensive CMT cohort we work with here at QS CNMD. Professor Reilly has been a fantastic supervisor and mentor, and has helped me develop my passion for genomics and CMT.

During my Fellowship, I’ve been involved in a number of publications reflecting my research interests. I performed a genetic and clinical analysis, including natural history, of the largest cohort of CMTX1 (caused by GJB1 variants ) patients worldwide (Record et al, Brain, 2023, doi:10.1093/brain/awad187) as part of the NIH Inherited Neuropathies Consortium. I’m also interested in exploring the strengths and limitations of genetic testing to deliver clear diagnoses; relevant outputs to date include our experience of research whole genome sequencing (WGS) in the clinic and its contribution to diagnostic uplift (Record et al, Brain, 2024, https://doi.org/10.1093/brain/awae064), the practical application and considerations for WGS in routine NHS testing (Record CJ & Reilly MM, Pract.Neurol., 2024, https://doi.org/10.1136/pn-2023-004083) and podcast (see link: https://www.podbean.com/ep/pb-hzx76-16a1273) and where WGS is not the best first line test (Record et al, J.Neurol.Neurosurg.Psychiatry, 2023, https://doi.org/10.1136/jnnp-2022-330223). I have also published works to refine and expand phenotypes e.g. novel features in SORD neuropathy and RFC1-related disease, (Record et al, J.Peripher.Nerv.Syst., 2022, doi: 10.1111/jns.12492 and Record et al, J.Peripher.Nerv.Syst., 2022, doi: 10.1111/jns.12515), been involved with ICGNMD Stellenbosch’s work to extend the phenotype of PEX11B pathogenic variants, (Henning et al, Mov.Disord.Clin.Pract., 2024, doi: 10.1002/mdc3.14178) and contributed to identification and classification of novel variants (e.g. Digenic FLNA and UCHL1 variant complex phenotypes (Pernice et al, J.Peripher.Nerv.Syst., 2024, https://doi.org/10.1111/jns.12611). Most recently I have led a collaboration identifying the novel disease-gene association in neuropathy with conduction block in patients with recessive variants in PIGG (Record et al, Annals of Neurology, 2024, https://doi.org/10.1002/ana.27113).

Looking forward, I am now working to complete my clinical neurology training at St George’s, London, and hope to pursue what I feel is a fascinating clinical academic career track in coming years.”