Head of the Epigenetic Mechanisms and Disease Research Group
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.
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 ataxia. Nat Med, Vol:29, 86–94 (2023). ISSN 1546-170X
Ricotti, V., Kadirvelu, B., Selby, V., Festenstein, R ., Mercuri, E., Voit, T. & A. Faisal, A.,2023. Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. Nat 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 study, British 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 study, The 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 B3, Human Molecular Genetics, Vol:22, ISSN:0964-6906, Pages:2662-2675
Guillemette, B., 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 methylation, PLOS 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 Well, Developmental Cell, Vol:19, ISSN:1534-5807, Pages:477-484
Festenstein R, 2006, Breaking the silence in Friedreich’s ataxia, Nature 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 silencing, Nature, 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 variegation, Science, Vol:271, ISSN:0036-8075, Pages:1123-1125