Wellcome Trust Centre For Mitochondrial Research

Dr Rhys Thomas

Biography

Rhys joined Newcastle University from Cardiff University in August 2017. He is an Honorary Consultant in Epilepsy at the Royal Victoria Infirmary, where he leads on epilepsy and learning disability. Rhys joined the Mitochondrial clinical team in 2018.

His research interests include the causes and consequences of epilepsy – primarily the genetic causes of the epilepsies. As such he focuses on seizures and stroke-like episodes in our mitochondrial clinics.

Rhys was the 2017 Royal College of Physicians Linacre lecturer. He spoke about the risks and benefits of Sodium Valproate for women of child-bearing age. He is a Trustee of Epilepsy Research UK and Disability North. He is an Associate Editor of Practical Neurology, Web Editor of Seizure and is on the editorial board of Clinical Medicine.

Research Project

Mitochondrial Disorders Priority Setting Partnership (PSP)

Other staff members involved:  Catherine Feeney, Lyndsey Butterworth

Project Details

Rhys is the clinical lead for the Mitochondrial Disorders PSP.

This is a collaboration of patients, carers and clinicians to identify the research questions most important to children and adults with mitochondrial disorders. The process involves asking the community for their unanswered research questions, reviewing and then ranking them. This follows a research methodology supported by the James Lind Alliance, so that the results of this PSP are comparable to other common and rare conditions.

This is due to report in 2020 and is funded by Genetic Alliance UK. Our hope is that this will lead to a set of research priorities to challenge the international research community to focus on the needs of people living with mitochondrial disorders.

Email: 

Sponsor/Funder: Genetic Alliance UK (grant from the Wellcome Trust)

Collaborators: https://www.geneticalliance.org.uk/mitochondrial-diseases-psp-steering-group-members/

Publications

Eaton CB, Thomas RH, Hamandi K, Payne GC, Kerr MP, Linden DEJ, Owen MJ, Cunningham AC, et al. (2019).  Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders.  Epilepsia. 60(5):818-829. doi: 10.1111/epi.14722.

Thomas RH, Thomas NJP. Genetic chameleons: remember the relapsing disorders. (2019). Pract Neurol. 19(4):282-283. doi: 10.1136/practneurol-2018-002181.

Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI et al. (2019). Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019 Mar 12;92(11):e1238-e1249. doi: 10.1212/WNL.0000000000007089.

Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C et al. (2018). Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology. 91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567.

Thomas RH, Cunningham MO. (2018). Cannabis and epilepsy. Pract Neurol. 18(6):465-471. doi: 10.1136/practneurol-2018-002058. Epub 2018 Oct 18. Review.

Kopczynska M, Zelek WM, Vespa S, Touchard S, Wardle M, Loveless S, Thomas RH, Hamandi K, Morgan BP. Complement system biomarkers in epilepsy. (2018). Seizure. 60:1-7. doi: 10.1016/j.seizure.2018.05.016.

Thomas RH. (2018). Valproate: life-saving, life-changing. Clin Med (Lond). 1;18(Suppl 2):s1-s8. doi: 10.7861/clinmedicine.18-2-s1.

Lacey AS, Pickrell WO, Thomas RH, Kerr MP, White CP, Rees MI. Educational attainment of children born to mothers with epilepsy. (2018). J Neurol Neurosurg Psychiatry. 89(7):736-740. doi: 10.1136/jnnp-2017-317515.

Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S, França W, Haaker G, Isaev D, Keller SS, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Langner S, Lenge M, Leyden KM, Liu M, Loi RQ, Martin P, Mascalchi M, Morita ME, Pariente JC, Rodríguez-Cruces R, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Thomas RH, Tondelli M. (2018). Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study. Brain.141(2):391-408. doi: 10.1093/brain/awx341.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J. (2017).  High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

Abdul Rahim MI, Thomas RH. (2017). Gamification of Medication Adherence in Epilepsy. Seizure. 52:11-14. doi: 10.1016/j.seizure.2017.09.008.

Hughes EG, Thomas RH. (2017). Epilepsy treatment priorities: answering the questions that matter. J Neurol Neurosurg Psychiatry. 88(11):999-1001. doi: 10.1136/jnnp-2016-315135.

Handley JD, Thomas RH, McKenna P, Hughes TAT. (2017). On the road again: assessing driving ability in patients with neurological conditions. Pract Neurol.17(3):203-206. doi: 10.1136/practneurol-2017-001601.

Epi4K consortium; Epilepsy Phenome/Genome Project. (2017). Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol. 16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3.

Jones LA, Thomas RH. (2017). Sudden death in epilepsy: Insights from the last 25 years. Seizure. 44:232-236. doi: 10.1016/j.seizure.2016.10.002.