1. Sagie, Shira., Lerman-Sagie, Tally., Maljevic, Snezana., Yosovich, Keren., Detert, Katja., Chung, Seo-Kyung., Rees, Mark I., Lerche, Holger. & Lev, Dorit. (2018). Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus. Brain

   https://cronfa.swan.ac.uk/Record/cronfa40502 doi:10.1093/brain/awy129
2. Piard, Juliette., Essien Umanah, George K., Harms, Frederike L., Abalde-Atristain, Leire., Amram, Daniel., Chang, Melissa., Chen, Rong., Alawi, Malik., Salpietro, Vincenzo., Rees, Mark I., Chung, Seo-Kyung., Houlden, Henry., Verloes, Alain., Dawson, Ted M., Dawson, Valina L., Van Maldergem, Lionel. & Kutsche, Kerstin. (2018). Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation. Brain

   https://cronfa.swan.ac.uk/Record/cronfa39409 doi:10.1093/brain/awy100
3. Piard, Juliette., Umanah, George K Essien., Harms, Frederike L., Abalde-Atristain, Leire., Amram, Daniel., Chang, Melissa., Chen, Rong., Alawi, Malik., Salpietro, Vincenzo., Rees, Mark I., Chung, Seo-Kyung., Houlden, Henry., Verloes, Alain., Dawson, Ted M., Dawson, Valina L., Van Maldergem, Lionel. & Kutsche, Kerstin. (2018). A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. Brain

   https://cronfa.swan.ac.uk/Record/cronfa38363 doi:10.1093/brain/awx377
4. Fry, Andrew E., Fawcett, Katherine A., Zelnik, Nathanel., Yuan, Hongjie., Thompson, Belinda A N., Shemer-Meiri, Lilach., Cushion, Thomas D., Mugalaasi, Hood., Sims, David., Stoodley, Neil., Chung, Seo-Kyung., Rees, Mark I., Patel, Chirag V., Brueton, Louise A., Layet, Valérie., Giuliano, Fabienne., Kerr, Michael P., Banne, Ehud., Meiner, Vardiella., et. al. (2018). De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain

   https://cronfa.swan.ac.uk/Record/cronfa38246 doi:10.1093/brain/awx358
5. Chung, S. (2017). Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. The Lancet Neurology 16(2), 135-143.

   https://cronfa.swan.ac.uk/Record/cronfa31749 doi:10.1016/S1474-4422(16)30359-3

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• PM-257 Neuroscience

  In order to help students understand the biological basis for behavioural neuroscience and neurological disorders, this module seeks to integrate the multidisciplinary sciences - for example, anatomy, physiology and biochemistry - that have combined to build the emerging field of neuroscience. The aim is to gain a mechanistic and holistic knowledge of the nervous system that builds from the molecular, cellular and developmental, to the systems level. In addition to exploring normal function, this module will introduce common disorders of the central and peripheral nervous systems in an integrated way. Students will be guided in exploring the scientific evidence around what is known and unknown and will be introduced to current research findings in the scientific literature.

• PM-304 Biomolecular Research Project

  *

• PM-344 Capstone Project

  The aim of this module is to provide a capstone experience to students¿ learning, through participating in their own enquiry-based research project. Depending on the student's employability strand within the programme, the project may be laboratory, data, or education-based, but it will always involve a research question that is drawn from the literature, focused on a topic relevant to medical science. It will ask a novel research question and involve the critical analysis of research findings. Students will refine their oral and written communication skills to a graduate level through creating an introductory presentation on the project background, and a written dissertation and oral presentation on their research conclusions.

• PM-400 Advanced Research Project A

  The advanced research project is a key component of the final year of study, providing students with experience of conducting cutting-edge research in the Institute of Life Science and Centre for Nanohealth over an 9-month period. The project will fall into one of the current medically-related research themes: Biomarkers and Genes; Microbes and Immunity; Devices. Students will employ a range of advanced analytical procedures to investigate a specific topic. In addition, they will gain experience in preparing a research proposal and presenting their data in various formats. Research topics will be assigned that are appropriate to a specific degree title. For example, a Genetics student could be assigned a project investigating gene function in an insect vector of a tropical disease, using the technique of RNA interference. The advanced research project is divided between 2 modules, PM-400 and PM-402. PM-400 includes the following components: (1) Preparation of a research poster, (2) A 15-minute audio recording giving a presentation of the research area, (3) Lab performance and (4) Oral defence of the project in an open viva (20-minute presentation followed by 10-minutes of questions).

• PMGM00 Bioinformatics for Genome Analysis

  The module will cover the fundamental principles of informatics and bioinformatics applied to clinical genomics, find and use major genomic and genetic data resources; use software packages, in silico tools, databases and literature searches to align sequence data to the reference genome, critically assess, annotate and interpret findings from genetic and genomic analyses. Theoretical sessions will be coupled with practical assignments of analysing and annotating predefined data sets.

• Analysis of potential mRNA splice-affecting gene-variants identified in epilepsy families and cases (awarded 2019)

  Student name: Adam Higgins

  PhD

  Other supervisor: Dr Jonathan Mullins

  Other supervisor: Prof Mark Rees

• Exploring emerging data types for epilepsy research: Electronic Healthcare records, free texts and genetic mutation. (awarded 2018)

  Student name: Arron Lacey

  PhD

  Other supervisor: Prof Xianghua Xie

  Other supervisor: Prof Mark Rees