by Rauan Kaiyrzhanov, Shymkent, Kazakhstan
It is my pleasure to report on my EAN Research Training Fellowship at the Department of Neuromuscular Diseases Institute of Neurology, University College London (IoN UCL). The institute, together with the National Hospital for Neurology and Neurosurgery forms the world-leading cluster for neuroscience, clinical and translational neurology, widely known as Queen Square. I am very grateful to the European Academy of Neurology for the award, which allowed me to advance my research skills and clinical knowledge at Queen Square. I am grateful to Prof. Henry Houlden, who kindly hosted me at his department and provided great support.
Since my research project was focused on neurogenetics, most of my time was spent at the neurogenetics lab of the department where I learned a variety of genetic analysis techniques including DNA extraction from a whole blood sample, Sanger sequencing, DNA fragment analysis, qPCR, fibroblast culturing, and exome sequencing data analysis. I recruited over 100 families with hereditary chorea and genetic cerebellar ataxia from Kazakhstan and Tajikistan, collected their phenotype details and obtained their blood samples for a genetic analysis. Running DNA fragment analysis revealed pathogenic trinucleotide expansions in HTT, ATXN1, ATXN2, ATXN3, ATXN7, TBP genes in a large proportion of the recruited patients. Families, who were negative for trinucleotide expansions were sent for exome and genome sequencing as well as for GSA array genotyping. This revealed a number of genetic defects in known genes as well as several novel genes. During my fellowship, I managed to publish two first-authored papers reporting a novel gene, LETM1, and phenotype expansion on NFU1: https://doi.org/10.1016/j.ajhg.2022.07.007 and https://doi.org/10.1002/acn3.51679. I am planning to continue recruiting more families with clinically suspected Huntington’s disease and spinocerebellar ataxia to build a larger cohort and be able to publish a research article with strong and interesting data.
In addition to my research project, I regularly attended neurogenetics and multiple system atrophy clinics at Queen Square run by Prof. Nick Wood and Prof. Henry Houlden. I saw many patients with rare neurogenetic disorders and advanced my clinical skills. Queen Square holds regular weekly teaching sessions, including traditional Gower’s ground rounds, Critchley rounds, neuro-ophthalmology case demonstrations, neuro-oncology MDT, neuroradiology and neuropathology meetings and basal ganglia club meetings. I was able to regularly attend all these meeting over the year and learn a lot.
The institute regularly hosts visiting clinician scientists from around the world. Over the year we had visiting researchers from Canada, USA, Turkey, Russia, China, Poland, Italy, Spain, and Switzerland. Meeting clinician scientists from around the world has significantly expanded my research network. The team at the Department of Neuromuscular disorders IoN UCL is friendly, and the environment is very congenial for conducting research.
Overall, my EAN fellowship at Queen Square left a very positive impact on my future career as I fulfilled my short-term aims, gained clinical and laboratory experience, and expanded my network.