Genetics

Our genetics team are embedded within the UK Dementia Research Institute Genetics Lab at UCL run by John Hardy. Ongoing projects include:

Exome sequencing of the UCL FTD cohort
Linking genetics with neuroimaging
Pick’s disease International Consortium (PIC) study in collaboration with Rosa Rademakers (VIB) and Owen Ross (Mayo Clinic)

Team Members

Posters

AAIC 2021 (virtual, July 2021): Dual pathogenic mutations in SQSTM1 and C9orf72 as a cause of frontotemporal dementia with primary lateral sclerosis
ARUK 2021 (virtual, March 2021): Dual pathogenic mutations in SQSTM1 and C9orf72 as a cause of frontotemporal dementia with primary lateral sclerosis
10th ICFTD (Munich, September 2016): TMEM106B polymorphism is associated with lower cortical volumes in a clinically diagnosed FTD cohort

Publications

Genetic testing in dementia – utility and clinical strategies. Koriath CAM, Kenny J, Ryan NS, Rohrer JD, Schott JM, Houlden H, Fox NC, Tabrizi SJ, Mead S.Nat Rev Neurol. 2020 (Epub ahead of Print).
Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature. Swift IJ, Bocchetta M, Benotmane H, Woollacott IO, Shafei R, Rohrer JD. Neurobiol Aging. 2021;99:100.e9-100.e15
ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independent of amyloid-β copathology. Koriath C, Lashley T, Taylor W, Druyeh R, Dimitriadis A, Denning N, Williams J, Warren JD, Fox NC, Schott JM, Rowe JB, Collinge J, Rohrer JD, Mead S. Alzheimers Dement (Amst). 2019;11:277-280.
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Koriath C, Kenny J, Adamson G, Druyeh R, Taylor W, Beck J, Quinn L, Mok TH, Dimitriadis A, Norsworthy P, Bass N, Carter J, Walker Z, Kipps C, Coulthard E, Polke JM, Bernal-Quiros M, Denning N, Thomas R, Raybould R, Williams J, Mummery CJ, Wild EJ, Houlden H, Tabrizi SJ, Rossor MN, Hummerich H, Warren JD, Rowe JB, Rohrer JD, Schott JM, Fox NC, Collinge J, Mead S. Mol Psychiatry. 2018 [Epub ahead of print]
The TMEM106B risk allele is associated with lower cortical volumes in a clinically diagnosed frontotemporal dementia cohort. Harding SR, Bocchetta M, Gordon E, Cash DM, Cardoso MJ, Druyeh R, Ourselin S, Warren JD, Mead S, Rohrer JD. J Neurol Neurosurg Psychiatry. 2017;88(11):997-998.