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UPDATE: We are delighted to announce that EPSRC have funded our CDT for five more years under the new name EPSRC Centre for Doctoral Training in Intelligent Integrated Imaging in Healthcare (i4health).

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06 Jun

Developing novel biomarkers in the GENetic FTD Initiative (GENFI) study

by Benedetta Biffi


Frontotemporal dementia (FTD) is a clinically, pathologically and genetically heterogeneous neurodegenerative disorder which is familial in around a third of cases. The Genetic FTD Initiative (GENFI) is a multicentre study of genetic frontotemporal dementia focusing on symptomatic patients carrying mutations in the progranulin (GRN), tau (MAPT) and C9orf72 genes, as well as their at-risk first degree relatives. GENFI 1 involved 13 centres and ran between 2012 and 2015 recruiting 365 participants. GENFI 2 involves 26 centres and aims to run from 2015 to 2020 recruiting 800 subjects who will be seen at three time-points – the key outcomes will be the development of robust biomarkers of disease onset and progression that can be used in future disease-modifying trials of genetic FTD. Initial structural imaging studies have shown overlapping but distinct networks involved in the three different genes: all genes affect a frontal-insular-anterior cingulate network but in GRN a prefrontal-striatal network is also affected whilst in MAPT there is medial temporal involvement and in C9orf72, a cortico-thalamic-cerebellar network. Structural imaging abnormalities are seen at least ten years before expected symptom onset with evidence for early structural and functional connectivity abnormalities. Novel markers being investigated in genetic FTD include tau and inflammatory PET as well as retinal imaging.

Speaker Bio:

Dr Jonathan Rohrer is currently an MRC Clinician Scientist at the UCL Institute of Neurology and Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery. His research has focused on the neuroimaging and neuropsychology of frontotemporal dementia (FTD), particularly in relation to their underlying genetic causes. Since 2011 he has co-ordinated the Genetic FTD Initiative, GENFI, a multicentre cohort study of presymptomatic genetic FTD ( He has also set up FTD UK (, an annual scientific meeting of UK researchers who work in the FTD field (running since 2011), and runs a website dedicated to providing research updates to the general public about FTD: FTD talk (


Date & Time: Tuesday 06 June, 18.00 – 19.00 (followed by a drinks reception)

Location: UCL, Roberts Building LT 106

Booking: Please visit Eventbrite


Benedetta Biffi

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