Part of the Neuroscience and Molecular Psychiatry research group and led by Professor Mark Rees, this group's research focus is the genetic and functional biology of inherited human neurological disorders. The work targets disorders such as epilepsy, movement disorders, neuronal migration disorders, Huntington’s and Alzheimer’s disease with an emerging attention to neuropathology and stem cell biology.

The group is the home for the Wales Epilepsy Research Network (WERN), where a multi-disciplinary portfolio of research is being organised across centres in Cardiff, Swansea and North Wales. The network has four Research Development Groups, which oversee projects and workgroups in Biomedical, Clinical and Health professional fora (for more information, visit WERN and CRC-Cymru). WERN is also a member of the Joint Epilepsy Council (JEC), the International League Against Epilepsy – UK, and the James Lind Alliance.

This group has several national and international collaborations, including a programme of MRC research in conjunction with the School of Pharmacy, London on the genetics and cell biology of hyperekplexia, childhood idiopathic epilepsies and a recent project on the role of tubulins in neuronal migration disorders submitted to the Wellcome Trust.

As well as extensive collaborations that exist with centres in Cardiff University, London Institutions, Liverpool University and Sydney’s Garvan Institute, there are strong links with the University of Auckland, New Zealand, due to previous appointments there for Professor Rees, Dr Baer and Dr Chung. Collaborative work with the University of Auckland revolves around:

• Huntington’s disease and development of animal models and preventive therapies for human neurodegeneration
• Neuroantomy and neuropathology of glycinergic and GABAergic systems using post-mortem tissue derived from the renowned Neurological Foundation of New Zealand Human Brain Bank
• Transcription factor expression in progenitor cells and stem cell differentiation

Academic Staff
Professor Mark Rees - Professor of Molecular Neuroscience and Research Director of ILS
Dr Kristin Baer - Lecturer in Neuroscience
Dr Jeff Davies – MRC Research Fellow
Dr Ann Johnston – Clinical Research Fellow and SpR Neurology (WERN)
Dr Rhys Thomas - Clinical Research Fellow and SpR Neurology (WERN)

Research Staff
Seo-Kyung Chung - Research Officer and PhD student.
Carrie Hammond - Coordinator of the Wales Epilepsy Research Network and PhD student.

Postgraduate Students
Mrs Angela Robinson – PhD Student in Hyperekplexia
Mr Thomas Cushion – PhD Student in Neuronal Migration Disorders
Ms Hannah Stapley – MPhil Student in Neural Stem Cell Biology

Academic / Research Enquiries

MPhil / MD / PhD Enquiries

Links
Recent NATURE GENETICS Paper

Recent TRENDS IN GENETICS Paper

Publications by Professor Rees, Dr Baer and Dr Davies
Yang T, Chung S, Zhang W, Mullins JGL, McCulley CH, Crawford J, MacCormick J, Eddy CA, Shelling AN, French JK, Yang P, Skinner JR, Roden DM, Rees MI (2009).  Biophysical properties of 9 KCNQ1 mutations associated with Long-QT Syndrome.  Circulation Arrhythmia Electrophysiology 2; 417-426

Harvey RJ, Topf M, Harvey K and Rees MI (2008). The genetics of hyperekplexia: more than startle! Trends in Genetics; 24(9): 439-447.

Waldvogel HJ, Baer K, Gai W-P, Gilbert RT, Rees MI, Mohler H, Faull RLM (2008). Differential Localisation of GABAA receptor subunits within the substantia nigra of the human brain: an immmunohisotochemical study. Journal of Comparative Neurology; 506(6): 912-929.

Harvey RJ, Carta E, Pearce BR, Chung S-K, Supplisson S, Rees MI and Harvey K (2008). A critical role for glycine transporters in hyperexitability disorders. Frontiers in Neuroscience; 1(1): 1-6.

Eddy CA, MacCormick JM, Chung SK, Crawford J, Love DR, Rees MI, Skinner JR and Shelling AN (2008). Identification of large gene deletions and duplication in patients with long QT syndrome. Heart Rhythm; 5(9): 1275-1281.

Stephenson JBP, Harvey K, Harvey RJ, Rees MI (2008). Childhood Hyperekplexia. Chapter in Channelopathies in the CNS during Childhood. Series on Clinics in Developmental Medicine (in press).

Waldvogel HJ, Baer K, Gilbert RT, Gai W-P, Rees MI, Faull RLM (2008). The Celllular Localisation of GABAA and Glycine Recptors in the Human Basal Ganglia. IBAGS Chapter (in press).

Davies JS, Kotokorpi P, Lindahl U, Oscarsson J, Wells T, Mode A (2008). Effects of the synthetic liver X receptor agonist T0901317 on the growth hormone and thyroid hormone axis in male rats. Endocrine. 33(2): 196-204.

El-Kasti MM, Christian HC, Huerta-Ocampo I, Stolbrink M, Gill S, Houston PA, Davies JS, Chilcott J, Hill N, Matthews DR, Carter DA, Wells T (2008). The pregnancy-induced increase in baseline circulating growth hormone in rats is not induced by ghrelin. J Neuroendocrinol.; 20(3):309-22.

Holter JL, Davies JS, Man P‑S, Wells T, Carter DA (2008). Transgenic delivery and detection of GFP in neuropeptide neurons. In: Neuropeptide Methods. Editor, Illana Gozes. Humana Press, Totowa, NJ, USA.

Baer K, Eriksson PE, Faull RLM, Rees MI, Curtis MA (2007). Sox-2 is expressed by glial cells and Pax6 is expressed by migratory progenitor cells in the human subventricular zone. Experimental Neurology; 204(2): 828-831.

Skinner JR, Chung S-K, Nel C-A, Shelling AN, Crawford J, McKenzie N, Pinnock R, French JK, Rees MI (2007). Brugada Syndrome masquerading as febrile seizures. Pediatrics; 119(5): 1-6.

Waldvogel H, Baer K, Allen KL, Rees MI, Faull RLM (2007). Glycine receptors in the Striatum, Globus pallidus, and substantia nigra of the human brain: an immunohisotochemical study. Journal of Comparative Neurology; 502(6): 1012-1029.

Baer K, Buerli T, Wiesner A, Huh K-H, Erb S, Moransard M, Rees MI, Henley JM, Fritschy JM, Fuhrer C (2007). PICK1 interacts with α7-neuronal nicotinic acetylcholine receptors and controls their clustering. Molecular and Cellular Neuroscience; 35(2): 339-355.

Baer K, Eriksson PS, Faull RLM, Rees MI, and Curtis MA (2007). Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone. Experimental Neurology, 204(2) 828-831.

Chung S-K, MacCormick J, McCulley CH, Crawford J, Eddy C-A, Mitchell EA, Shelling AN, French JK, Skinner JR, Rees MI (2007). Long-QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm; 4(10): 1306-1314.

Rees MI and Hammond CL (2007). The Wales Epilepsy Research Network. The Welsh Pediatric Journal; 26: 28-31.

Rees MI (2007). The Conundrum of Complexity in Epilepsy (2007). Lancet Neurology; 6(11): 943-944.

Rees MI (2007). Feature article in “Advances in the Genetic Understanding of Epilepsy”. Learning Disability and Epilepsy Reviews – Issue 2.

Tijssen MAJ and Rees MI (2007). Gene Reviews for Hyperekplexia. Gene Tests - http://www.genetests.org/

Skinner JR, Tao Y, Chung S-K, Nel C, Crawford J, Shelling AN, Wilson C, Roden D, Rees MI (2007). Co-Inheritance of Long-QT Syndrome and Kearns-Sayre Syndrome. Heart Rhythm; 4(12): 1568-1572.

Davies JS, Gevers EF, Stevenson AE, Coschigano KT, El-Kasti MM, Bull MJ, Elford C, Evans BA, Kopchick JJ, Wells T (2007). Adiposity profile in the dwarf rat: an unusually lean model of profound growth hormone deficiency. Am J Physiol Endocrinol Metab.; 292(5):E1483-94.

Buerli T, Pellegrino C, Baer K, Lardi-Studler B, Chudotvorova I, Fritschy JM, Medina I, Fuhrer C (2007). Efficient transfection of DNA or shRNA vectors into neurons using magnetofection. Nature Protocols; 2(12):3090-101.

Waldvogel HJ, Curtis MA, Baer K, Rees MI, Faull RLM (2006). Immunohistochemical and immunocytochemical analysis of post-mortem human brain. Nature Protocols; 1(6): 2719-2732.

Harrison-Woolrych M, Clark DW, Hill GR, Rees MI and Skinner JR QT interval prolongation associated with sibutramine treatment (2006). British Journal of Clinical Pharmacology 61(4) 464-9.

Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuber SM, Stephenson JBP, Owen MJ, Tijssen MAJ, van den Maagdenberg AMJM, Smart TG, Supplisson S and Harvey RJ (2006). Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease. Nature Genetics 38(7) 801-6.

Young RP, Hopkins R, Black PN, Eddy C, Wu L, Gamble GD, Mills G, Garrett JE, Eaton T, Rees MI (2006). Functional variants of anti-oxidant genes in smokers with and without impaired lung function. Thorax 61(5) 394-99.

Martini AC, Fernández-Fernández R, Tovar S, Navarro VM, Vigo E, Vazquez MJ, Davies JS, Thompson NM, Aguilar E, Pinilla L, Wells T, Dieguez C, Tena-Sempere M (2006). Comparative analysis of the effects of ghrelin and unacylated ghrelin on luteinizing hormone secretion in male rats. Endocrinology.; 147(5):2374-82.

Davies JS, Thompson NM, Christian HC, Pinilla L, Ebling FJ, Tena-Sempere M, Wells T (2006). Hypothalamic expression of human growth hormone induces post-pubertal hypergonadotrophism in male transgenic growth retarded rats. J Neuroendocrinol.; 18(10):719-31.

Davies JS, Carter DA (2006). Protein/DNA interaction profiling reveals novel regulators of the pineal transcriptome. Mol Cell Endocrinol.; 252(1-2):19-26.

Skinner JR, Chung S-K, Montgomery D, McCulley C, Crawford J, French J, Rees MI (2005). Near-miss SIDS due to Brugada syndrome. Archives of Disease in Childhood 90(5): 528-9.

Holter J, Davies J, Leresche N, Crunelli V, Carter DA (2005). Identification of two further splice variants of GABABR1 characterizes the conserved micro-exon 4 as a hot spot for regulated splicing in the rat brain. J Mol Neurosci.; 26(1):99-108.

Harvey K, Duguid IC, Alldred M, Ward H, Keep N, Lingenfelter SE, Pearce BR, Owen MJ, Smart TG, Lüscher B, Rees MI and Harvey RJ (2004). Regulation of Gephyrin Clustering by Functional Domains of the Guanidine Exchange Factor Collybistin. Journal of Neuroscience; 24 (25): 5816-5826.

Davies JS, Holter JL, Knight D, Beaucourt SM, Murphy D, Carter DA, Wells T (2004). Manipulating sorting signals to generate co-expression of somatostatin and eGFP in the regulated secretory pathway from a monocistronic construct. J Mol Endocrinol.; 33(2):523-32.

Davies JS, Carter DA, Wells T (2004). Photic stimulation inhibits growth hormone secretion in rats: a hypothalamic mechanism for transient entrainment. Endocrinology.; 145(6):2950-8.

Baer K, Waldvogel H, During MJ, Snell RG, Faull RLM, Rees MI (2003). Association of gephyrin and glycine receptors in the human brainstem and spinal cord: An immunohistochemical analysis. Neuroscience; 122 (3): 773-784.

Rees MI, Harvey K, Ward H, White JH, Evans IL, Duguid I, Zhu C, Coleman SL, Baer K, Waldvogel H, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG (2003). Isoform heterogeneity of the human Gephyrin Gene (GPHN) binding domains to the glycine receptor and mutation analysis in hyperekplexia. Journal of Biological Chemistry; 278 (27): 24688-24696.

Reid S, Rees MI, von Roon W, McDonald M, Jones LA, Owen MJ, Snell RG (2003). Cellular expression of expanded variable repeat length CAG repeats of the TATA binding protein. Neurobiology of Disease; 13(1): 37-45.

Thompson-Vest NM, Waldvogel HJ, Rees MI, Faull RLM (2003). Gephyrin and GABAA receptors in normal and Huntington’s Disease brains. Brain Research; 994 (2): 265-270.

Waldvogel HG, Baer K, Snell RG, During RG, Faull RLM, Rees MI (2003). Distribution of the anchoring protein gephyrin in human brain: an immunohistochemical analysis. Neuroscience; 116 (1): 145-156.

Thompson NM, Davies JS, Mode A, Houston PA, Wells T (2003). Pattern-dependent suppression of growth hormone (GH) pulsatility by ghrelin and GH-releasing peptide-6 in moderately GH-deficient rats. Endocrinology; 144(11):4859-67.

Rees MI, Lewis T, Kwok J, Mortier G, Guavert P, Snell RG, Schofield PR and Owen MJ (2002). Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the inhibitory glycine receptor (GLRB). Human Molecular Genetics; 11(7): 853-860.

Anney RJ, Rees MI, Bryan E, Spurlock G, Williams N, Norton N, Williams H, Cardno A, Zammit S, Jones S, Jones G, Hoogendoorn B, Smith K, Hamshere ML, Coleman S, Guy C, O’Donovan MC, Owen MJ and Buckland PR. Characterisation, mutation detection, and association analysis of alternative promoters and 5’UTRs of the human dopamine D3 receptor gene in schizophrenia (2002). Molecular Psychiatry; 7(5): 493-502.

Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Stephenson R, Jungbluth H, Muntoni F, Kerr M, Snell RG, Schofield PR and Owen MJ (2001). Compound heterozygosity and nonsense mutations in the alpha1-subunit of the inhibitory glycine receptor in hyperekplexia. Human Genetics; 109(3): 267-270.

Publications by Dr Johnston and Dr Thomas
Johnston A, Smith P (2008). The treatment and comorbities of epilepsy. Nurse Professional (in press).

Johnston JA, Hammond CL, Kitcatt N, Morris HR, Smith PEM, Rees MI (2008). Face to face with the familial basis of epilepsy in Wales. J Neurol Neurosurg Psychiatry (in press).

Johnston JA, Hill M (2008). What’s the craic/crack? An audit of the prevention of osteoporosis in the neurology department. J Neurol Neurosurg Psychiatry (in press).

Johnston A, Smith P (2008). Delivering neurology training. 123 Doc Foundation Vol 2 (1).

Johnston A, Smith P (2008). Epilepsy in the older patient. Clinical Gerontology (in press).

Thomas RH, Hughes TAT (2008) Dot-to-dot. Prac Neurol 8(5); 325-329

Thomas RH, Smith PEM Epilepsy in Older Adults (2008). Geriatric Medicine; 38(2):16-23

Thomas RH (2008) Generalised Convulsive Status Epilepticus. Foundation Years Journal; 2(1);40

Thomas RH (2008) How do doctors choose their specialty: First love, arranged marriage or second time around? Clinical Medicine (in press)

Thomas RH (2009) Encephalitis guidelines: A recipe for success? Clinical Medicine (in press).

Thomas RH, Higgins S, Fuller GN. (2008) Dental injury during seizures associated with juvenile myoclonic epilepsy. J Neurol Neurosurg Psychiatry (in press)

Thomas RH, Smith PEM (2008) Neurology Chapter in ‘So, you want to be a brain surgeon?’ by Simon Eccles and Stephan Sanders (eds) OUP, Oxford, Edition 3 (in press)

Thomas RH, Hughes TAT (2009) Can I Drive? Practical Neurology (in press)

Johnston A, Smith P (2007). Review Sudden Unexpected Death in Epilepsy. Expert Rev Neurother.; 7(12):1751-61.

Johnston A, Smith P (2007). SANAD: Implications for clinical practice. Synapse Issue 09.

Johnston JA, Jumma O, Collins PW, Moat S, Shortland G, Smith PEM (2007). Tall, myopic, pulseless, drowsy and a ‘stroke’ of luck. J Neurol Neurosurg Psychiatry; 78 (9) 1018.

Johnston JA, Hughes TAT, Lammie GA (2007). Post-bone marrow transplant leukoencephalopthy. J Neurol Neurosurg Psychiatry; 78 (9) 1020.

Johnston A, Hamandi K (2007). Cost-effectiveness of Pregabalin. Expert Review of Pharmacoeconomics & Outcomes Research; 7 (4).

Johnston A, Smith P (2007). SANAD: Implications for clinical practice. Epilepsy Professional Issue 4 March 2007.

Johnston A, Smith P (2007). Book Review: Syncope Cases: Edited by Roberto Garcia-Civera, Gonzalo Baron-Esquivivias, Jean-Jacques Blanc, Michele Brignole, Angel Moya I Mitjans, Ricardo Ruiz-Granell and Wouter Wieling. J Neurol Neurosurg Psychiatry; 78 (4): 440.

Johnston JA, Smith PEM (2007). Book chapter: What is epilepsy? In: Prasher V, Kerr M (eds). Epilepsy and Intellectual Disabilities: Clinical Diagnosis and Management. Radcliffe Press; in press.

Pearson OR, Johnston JA, Sadiq S, Hourihan M, Robertson N (2006). A PRESsing situation – a case series. J Neurol Neurosurg Psychiatry; 77(12)1389.

Johnston JA, Pearson OR, Pickersgill TP and Logan R (2006). From the department of neuro-dermatology: is brachioradial pruritus a central neurological disorder? J Neurol Neurosurg Psychiatry; 77(12)1393.

Dutta D, Wood T, Thomas RH, Asrar Ul Haq M (2006). Is Overnight tube feeding associated with hypoxia in stroke? Age and Ageing; 35 :627-29

Click here to go back to biomedical research