My Research

Epigenetic mechanisms and disease

We aim to understand the epigenetic mechanisms that influence which genes will be switched ‘on’ and ‘off’ and how this is maintained. Ultimately, we investigate how cells know who are, and what this means for the development of diseases like Friedreich’s ataxia, rheumatoid arthritis, and many more.

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Selected publications

Kadirvelu, B., Gavriel, C., Nageshwaran, S., Ping Kei Chan J., Athanasopoulos, S., Ricotti, V., Voit, T., Giuniti, P., Festenstein, R & Faisal, A,. 2023 A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxiaNat Med, Vol:29, 86–94 (2023). ISSN 1546-170X 

Ricotti, V., Kadirvelu, B., Selby, V., FestensteinR ., Mercuri, E., Voit, T. A. Faisal, A.,2023. Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophyNat Med, Vol:29, 95–103 (2023). ISSN: 1546-170X  

Schon, KR., Horvath, R., Wei, W., Calabrese, C., Tucci,A., Ibanez,K., Ratnaike,T., Pitceathly,RDS., Bugiardini,E.,
Quinlivan,R., Hanna,MG., Clement,E., Ashton,E., Sayer,JA., Brennan,P.,
Josifova,D., Izatt,L., Fratter,C., Nesbitt,V., Barrett,T., McMullen,DJ.,
Smith,A., Deshpande,C., Smithson,SF., 
Festenstein,R.Canham,N.,
Caulfield,M., Houlden, H& Rahman, S,. 
2021, Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyBritish Medical Journal, Vol:375, ISSN:0959-535X

Reetz, K., Hilgers, R-D., Isfort, S., Dohmen, M., Didszun, C., Fedosov, K., Kistermann, J., Mariotti, C., Durr, A., Boesch, S., Klopstock, T., Rodríguez de Rivera Garrido, FJ., Schöls, L., Klockgether, T., Pandolfo, M., Korinthenberg, R., Lavin, P., Molenberghs, G., Libri, V., Giunti, P., Festenstein, R.Schulz, JB., 2019, Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA), Neurological Research and Practice, Vol:1, ISSN:2524-3489 

Libri, V., Yandim C., Athanasopoulos S., Loyse, N., Natisvili, T., Pik Law, P., Kei Chan, P., Mohammad, T., Mauri, M., Tung Tam, K., Leiper, J., Piper, S., Ramesh, A., Parkinson, M., Huson, L., Giunti, P., Festenstein, R., 2014, Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich’s ataxia: an exploratory, open-label, dose-escalation studyThe Lancet, Vol:384, ISSN:0140-6736, Pages:504-513 

Chan, PK., Torres, R., Yandim, C., Law, PP., Khadayate, S., Mauri, M., Grosan, C., Chapman-Rothe, N., Giunti, P., Pook, M., Chan, PK., Torres, R., Yandim, C., Law, P., Khadayate, S., Mauri, M., Grosan, C., Chapman-Rothe, N., Giunti, P., Pook, M & Festenstein, R., 2013, Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreichs ataxia can be reduced upon HDAC inhibition by vitamin B3Human Molecular Genetics, Vol:22, ISSN:0964-6906, Pages:2662-2675

GuillemetteB., Drogaris, P., Lin, H-HS., Armstrong, H., Hiragami-Hamada, K., Imhof, A., Bonneil, E., Thibault, P., Verreault, A., Festenstein, R., 2011, H3 lysine 4 8 is acetylated at active gene promoters and is regulated by H3 lysine 4 methylationPLOS Genetics, Vol:7, ISSN:1553-7390, Pages:1-16 

Wijchers PJ, Yandim C, Panousopoulou E, Ahmad, M; Harker, N; Saveliev, A; Burgoyne, PS & Festenstein, R., 2010, Sexual Dimorphism in Mammalian Autosomal Gene Regulation Is Determined Not Only by Sry but by Sex Chromosome Complement As WellDevelopmental Cell, Vol:19, ISSN:1534-5807, Pages:477-484 

Festenstein R, 2006, Breaking the silence in Friedreich’s ataxiaNature Chemical Biology, Vol:2, ISSN:1552-4450, Pages:512-513

Saveliev, A., Everett C., Sharpe T.Webster, Z & Festenstein, R., 2003, DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencingNature, Vol:422, ISSN:0028-0836, Pages:909-913 

Festenstein, R.Pagakis, SN., Hiragami, K., Lyon, D., Verreault, A., Sekkali, B & Kioussis, D., 2003, Modulation of heterochromatin protein 1 dynamics in primary mammalian cells, Science, Vol:299, ISSN:0036-8075, Pages:719-721

Festenstein, R.Tolaini, M.Corbella, P.Mamalaki, C., Parrington, J., Fox, M., Miliou, A., Jones, M & Kioussis, D., 1996, Locus control region function and heterochromatin-induced position effect variegationScience, Vol:271, ISSN:0036-8075, Pages:1123-1125