Arman Cakar, Istanbul, Turkey
Hosting department: Department of Neuromuscular Diseases, Institute of Neurology, University College London
Supervisor: Prof. Henry Houlden
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I am delighted to report on my EAN Research Training Fellowship period at the Department of Neuromuscular Diseases, Institute of Neurology, University College London, widely known as UCL Queen Square. I am thankful to the European Academy of Neurology for the opportunity, which allowed me to improve my research skills as well as clinical knowledge regarding the rare neuromuscular and neurogenetic disorders. I am grateful to Prof. Henry Houlden, who kindly hosted me at his department, provided great support and made me feel that I am part of the world-renowned team.
My research project was focused on the genetic background of distal hereditary motor neuropathy (dHMN) in Turkey. Therefore, I primarily spent my time in the neurogenetics lab of of Prof. Houlden, where I learned to perform genetic techniques such as DNA extraction from a whole blood sample, Sanger sequencing, and analysis of exome sequencing data. I recruited over 25 families who were followed at the Neuromuscular Unit of Istanbul University, Istanbul Faculty of Medicine with dHMN. Phenotype characterisation was done before the fellowship period and their blood samples obtained 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. 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 is friendly, and the environment is very congenial for conducting research.
Overall, my EAN Research 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.
Cansu Elmas, Istanbul, Turkey
Hosting departments: Division of Neuropathology and Neurochemistry, Medical University of Vienna, Austria, and Centre de Recherche en Myologie, UPMC Sorbonne Université, INSERM, Paris, France
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I extend my deepest gratitude to the European Academy of Neurology for granting me the exceptional opportunity of a 12-month EAN Research Training Fellowship at the Division of Neuropathology and Neurochemistry, Medical University of Vienna, Austria, and at the Centre de Recherche en Myologie, UPMC Sorbonne Université, INSERM, Paris, France.
I am foremost sincerely thankful to Inga Koneczny for her invaluable supervision and insightful guidance throughout my fellowship. Her expertise not only as a scientist but also as a role model has been truly inspiring.
The focus of my project was on neurological IgG4 diseases, involving the analysis of IgG subclass profiles in patient sera and the characterisation of brain tissue resident immune cells. I am grateful for the opportunity to actively participate in the lab and receive training in various methods, including cell culture, cell-based assays, flow cytometry, immunohistochemistry, and immunofluorescence. I truly appreciated the supportive and interactive environment of the lab fostered by Romana Höftberger, whose co-supervision greatly contributed to the success of our project.
Collaborating with Rozen Le Panse and her team was another highlight of my fellowship experience. I am sincerely appreciative of their exceptional hospitality and the crucial insights gained during my time in their lab.
I believe the opportunity to work with multiple teams and be trained in state-of-the-art methods, such as Imaging Mass Cytometry, immensely impacted my career as a neurologist and a researcher. Beyond the scientific work, I am grateful for the chance to explore two of Europe’s most beautiful cities, Vienna and Paris, and meet amazing colleagues who I consider dear friends.
In conclusion, I wholeheartedly encourage aspiring neurologists to apply for the EAN Research Training Fellowship, where they can embark on an enriching journey of scientific exploration, professional growth, and cultural enrichment.