果冻影院

ICGNMD is fortunate to have Natalia Dominik as part of the ICGNMD 果冻影院 team.聽 Natalia co-ordinates ICGNMD鈥檚 sample management and genetic testing activity and has also implemented robust single gene test protocols, including for 果冻影院鈥檚 first optical genome mapping facility.聽 Remarkably, for four years Natalia combined this with a part-time PhD, co-supervised by 果冻影院's Andrea Cortese, ICGNMD Co-Director Henry Houlden and ICGNMD Fellow Stephanie Efthymiou, entitled 鈥淕enetic and functional characterisation of ataxias and neuropathies with a focus on biallelic expansions in RFC1 and biallelic variants in ARHGAP19鈥�.

Natalia鈥檚 broad neuroscience experience has benefitted ICGNMD鈥檚 very diverse cohort. Recent, impactful first author publications include genetic and functional characterisation of ARHGAP19 (medRxiv. 2024: ), description of CANVAS as a late onset ataxia due to biallelic intronic AAGGG expansions (J Neurol. 2021; ) and work to distinguish normal and pathogenic RFC1 repeat expansions in neurological disorder diagnoses (Brain. 2023; ). Her research has already earned her prizes, including the 2023 Peripheral Nerve Society Richard and Mary Bunge Prize, and a 2023 Guarantors of Brain travel grant. Natalia contributed to ICGNMD鈥檚 first all-site paper and other international reports and investigations, for example our work to characterise FSHD1 repeat size in India (EJHG. 2024: ).

Natalia reflected 鈥淚 care about promoting Equality, Diversity and Inclusion - ICGNMD enables me to incorporate those principles into my daily work, and to support technical colleagues globally to deliver optimised ICGNMD samples and data. I look forward to being part of continued group efforts to deliver further important insights from this fantastic project.鈥�