UCL HUNTINGTON’S DISEASE RESEARCH

INFORMATION FOR SCIENTISTS, CLINICIANS, PATIENTS, RELATIVES AND CARERS

UCL HUNTINGTON’S DISEASE RESEARCH

THE HD RESEARCH TEAM

Principal Investigators

Sarah J Tabrizi FRCP PhD FMedSci

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Sarah is the Director and Founder of the Huntington’s Disease Centre, and Joint Head of the Department of Neurodegernative Disease, at the UCL Queen Square Institute of Neurology. She is also an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery where she leads the HD Multi-Disiplinary Clinic. In addition to basic bench science research programme which focuses on basic cellular mechanisms of neurodegeneration focusing on Huntington’s disease (HD), she also leads a large translational research programme in HD that is working towards finding effective disease-modifying treatments. She was the PI of TRACK-HD and Track-On HD, both major international research initiatives aimed at understanding the neurobiology of the neurodegenerative changes in premanifest and early stage HD gene carriers. She was global clinical PI on the world’s first gene silencing study for HD using anti-sense oligonucleotide therapy, sponsored by Ionis pharmaceuticals, the safety study for which successfully completed in December 2017. Sarah has published over 290 peer-reviewed publications to date, and her research work has been the subject of articles in NEJM, The Economist, Scientific American, and The Lancet.  She serves on several panels including the UK HD association, the European HD Network and NINDS/NIH. She co-founded, with Sir Michael Rawlins, the UK All Party Parliamentary Group for HD in 2010. In 2014, she was elected a Fellow of the UK Academy of Medical Sciences. In 2017 she received the seventh Leslie Gehry Brenner Prize for Innovation in Science awarded by the Hereditary Disease Foundation, and was appointed as a Principal Investigator at the UK Dementia Research Institute Hub.

Edward Wild

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Ed is an MRC Clinician Scientist at UCL Queen Square Institute of Neurology and Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery. His research focuses on the study of cerebrospinal fluid to understand HD and assist in the development and testing of new treatments. Ed graduated from Christ’s College, Cambridge University in 2001 and has worked in clinical neurology and HD research since 2005. His PhD research on biomarkers and inflammation in HD won him the 2009 Queen Square Prize in Neurology. In 2010 Ed co-founded HDBuzz, an online source of reliable, impartial, easy-to-understand information about HD research, for which he was awarded the 2012 Community Leadership Award from the Huntington Society of Canada and the 2014 Research Prize from the Huntington’s Disease Society of Americal Ed has authored 6 book chapters and over 50 peer-reviewed publications. He is considered a key opinion leader in Huntington’s disease and serves on the advisory panel to the Huntington’s Disease Association and the steering committee to the UK All-Party Parliamentary Group on Huntington’s disease. He is @DrEdWild on Twitter.

Team Members

Aneesa Ali – Research Technician

Aneesa completed her Master’s in Physiology and Pharmacology from King’s College London, in which she did a 6 month in-vivo industrial placement at Astra Zeneca. In April 2018, she joined the Tabrizi group to work on a collaborative project with Takeda Pharmaceutical Company to develop a high content imaging platform for the development of novel drugs to treat HD.

Ralph Andre – Senior Research Associate

Ralph is a cell and molecular biologist studying the processes in cells that lead to Huntington’s disease. Ralph graduated with a degree in Biology at the University of Manchester in 2001, followed by a PhD in 2004 in which he worked on inflammation and cerebral ischaemia. In 2006, he joined the Department of Neurodegenerative Disease at UCL to study the cell biology of prion diseases, subsequently joining the HD team in 2010. His current work focuses on neural-immune-white matter interactions in HD and the development of new stem cell models to better understand the disease.

Filipe Brogueira Rodrigues – Clinical Research Associate

Filipe

Filipe joined the Centre in 2015 as a Clinical Research Associate, and is now also Quality Control Officer for the international multicentre study HDClarity. He has a Bachelor of Science Degree in Medicine and Master Degree in Medicine from the University of Lisbon, Portugal. His research interests are research methodology and clinical trials optimization. He dedicates his research time developing and charactering new biomarkers, and studying the placebo effect in HD. He is also involved of multiple observational and interventional studies.

Lauren Byrne – Research Associate

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Lauren is a Research Associate working with Dr Ed Wild and manages the HD-CSF study. She studied Biology at Imperial College London, graduating in 2014 and completed an MRes in Translational Neurology at UCL Institute of Neurology in 2015. During her masters she carried out a research project with the HD imaging team measuring microstructural brain changes occurring after a brain training pilot study in HD patients. She is currently completing a part-time PhD on developing biofluid biomarkers for HD. Her work on neurofilament light protein in blood was published in 2017 in the Lancet Neurology and received a ‘HD Insight of the year’ award from the Huntington Study group.
Lauren is also passionate about HD advocacy and regularly gives research updates to the HD patient and family community. She is also a board member of the Huntington’s Disease Association NI.

 

Caroline Casey – PhD Student

Caroline is a Wellcome Trust PhD student. She graduated with a degree in Neuroscience with Industrial Experience from The University of Manchester in 2015, during which time she also completed a year of research experience at The Mayo Clinic, Florida. Her interests lie in the field of neurodegeneration as a result of her previous projects which focused on Alzheimer’s Disease. Having also conducted studies on stem cells, Caroline joined the Tabrizi lab to undertake a PhD project that combined her two specialities. For her PhD, Caroline is using iPSC-derived neurons to recapitulate the cortico-striatal pathway which is disrupted in HD. The aim of the project is to gain a better understanding of cortico-striatal dysfunction in HD; Caroline hopes her findings will contribute towards developing novel therapies for the disease.

Carlos Estevez Fraga – Clinical Research Associate

Carlos

Carlos joined the Centre in 2018 as a Clinical Research Associate and also works as an Honorary Specialist Registrar in Neurology at the National Hospital for Neurology and Neurosurgery . He obtained a degree in Medicine from the University of Navarra, Spain 2011, and trained as a neurologist at Ramon y Cajal University hospital in Madrid from 2012-2016, then completed a Fellowship in Movement Disorders at the same centre. He is the lead Fellow on the RG6042 Open Label Extension study sponsored by Roche, and is currently investigating the effects of mutant huntingtin lowering on imaging biomarkers in HD.He is interested in the neuroimaging aspects of HD, especially structural connectivity and volumetric MRI.

Kate Fayer – Research Assistant

Kate graduated from King’s college London with a degree in Neuroscience before completing her masters in Experimental Neuroscience at Imperial College London. She joined the team in April 2017 and helps coordinate the Enroll-HD study and performs cognitive rating for clinical trials.

Michael Flower – Clinical Research Associate

Mike

Michael is a Clinical Research Associate at the Centre and a Specialist Registrar in Neurology in London. He graduated from Cambridge University in 2009 and worked in clinical medicine and neurology. He joined the HD research team in 2015, did a PhD on the genetics and cell biology of Huntington’s disease, and works on clinical trials.

Hannah Furby – Research Associate

Hannah’s research focuses on MRI methods for understanding alterations in the HD brain in those who have the gene but are not yet symptomatic. MRI interests include cerebral blood flow (CBF), diffusion weighted imaging (e.g. DTI), quantitative magnetisation transfer (qMT) and volumetric analysis. She is also interested in differences in cognitive function and how these map onto the changes seen with MRI. Hannah completed her PhD at Cardiff University in 2016, where she explored the effect of non-medicinal interventions including exercise and cognitive training in pre-manifest HD carriers (CogTrainHD). Hannah is the UCL study coordinator for the WIN-HD study in young-adults with pre-manifest HD; funded by the MRC in collaboration with Prof Alexandra Durr at ICM, Paris. Her current research, funded by the Leonard Wolfson Foundation, investigates alterations in thalamic activity using the TRACK-ON dataset.

Stefanie Gosling – Study Administrator

Stefanie joined the Centre as Clinical Research Nurse. After completing her Diploma in Adult Nursing Stefanie has worked in Accident and Emergency for one year and the Neurosciences Intensive Care Unit at St. Georges for three and a half years. Stefanie joined the HD research Group in May 2013 to work on the Multiple Tissue Molecular Signatures in HD study and future clinical trials.

Sarah Gregory – Senior Research Associate

Sarah gained a first degree in Psychology and completed her PhD in forensic neuroscience at King’s College London examining morphology, connectivity and function in Antisocial Personality Disorder and Psychopathy using MRI. She joined the TrackOn-HD project in 2012 and is currently investigating compensation and network connectivity using resting-state fMRI and DTI.

Joseph Hamilton – Research Assistant

Joseph is a CHDI and DRI-funded Research Assistant. Graduating from the University of Abertay with a BSc (Hons) in Forensic Psychobiology, he transitioned into dementia-related research by obtaining a Masters degree in Neuroscience at UCL. During his time at UCL, Joseph has worked on genetic polymorphisms associated with PSP and his current research concerns the role of the DNA Damage Repair (DDR) pathway in Huntington’s Disease onset and progression. Joseph utilises several cell lines, including iPSC-derived neuronal variants, and the CRISPR gene editing system, with the aim of identifying a viable target for therapeutic intervention.

Yara Hassan – Clinical Research Associate

Yara holds an MBBS from Dubai Medical College, United Arab Emirates (UAE), and completed 5 years of Internal Medicine residency program in Abu Dhabi (UAE). Yara had worked as clinical fellow at the National Hospital for Neurology and Neurosurgery, UCLH prior to joining Huntington’s disease (HD) research team in Sep 2018 to take part in the ongoing HD clinical trials.

Davina Hensman – Clinical Research Fellow

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Davina is a Clinical Research Fellow at the Centre and an Honorary Specialist Registrar in Neurology at the National Hospital for Neurology and Neurosurgery. She graduated with a Biological Sciences degree from the University of Oxford in 2002 before studying Medicine at St George’s, University of London from where she graduated in 2007. She joined the team in November 2011 as the London-based clinician in the TrackOn-HD team.

Eileanoir Johnson – Research Associate

Eileanoir  joined the team in September 2012 to conduct analyses on the structural brain scans for the Track-On HD. Eileanoir has an undergraduate degree in Psychology and a Masters degree in Cognitive Neuroscience and recently completed her PhD, which examined brain changes during the course of Huntington’s Disease progression. She works on the HD-YAS study collecting the MRI scans and performing data analysis.

Carolin Koriath – Leonard Wolfson Clinical Fellow

Carolin is a Leonard Wolfson Clinical Fellow at the UCL Queen Institute of Neurology and an Honorary Specialist Registrar in Neurology at the National Hospital for Neurology and Neurosurgery. She studied Medicine at Ludwig-Maximilians-University Munich and worked as a Neurology registrar at the University Hospital of Munich with a focus on vertigo and oculomotor disorders. Carolin joined the team in 2015 and has a special interest in the genetics of dementia and Huntington’s Disease phenocopy syndromes, carrying out research with next-generation sequencing techniques in collaboration with Prof Simon Mead.

Jenny Lange – Research Associate

Jenny completed her first degree in Psychology and then studied for her Masters in Neuroscience at UCL.  Jenny gained her PhD at King’s College London examining neuron-glia interactions in infantile Batten disease. After two years as a Research Associate at the Institute of Child Health studying the role of dystrophin in cognitive impairments experienced by children with Duchenne Muscular Dystrophy, Jenny joined the Huntington’s disease Centre in 2018. She is now collaborating with Takeda Pharmaceutical Company to develop a high content imaging platform to screen novel compounds for treating Huntington’s disease.

Monica Lewis – Senior Clinical Trials Coordinator

Monica graduated in Edinburgh with a Neuroscience degree and has a Masters degree in Psychology. Monica has worked on clinical trials at UCL since 2007 and joined the Huntington’s Disease Research Group in September 2011 to coordinate the REGISTRY study and clinical trials.

Peter McColgan – Clinical Lecturer

Peter McColgan
Peter is an NIHR Academic Clinical Lecturer at the UCL Queen Square Institute of Neurology and an Honorary Specialist Registrar in Neurology at the National Hospital for Neurology and Neurosurgery. His research focuses on defining the origin of neurodegeneration in HD using high spatial and temporal resolution brain imaging methods. He graduated with a degree in engineering from UCL and an MSc. in Physiology from Trinity College Dublin before studying Medicine at Queen’s University Belfast.

 

 

 

 

Akshay Nair – Leonard Wolfson Clinical Training Fellow

Akshay

Akshay is a Leonard Wolfson Clinical Training Fellow investigating the neural basis of motivation and apathy. He uses behavioural paradigms, computational modelling and neuroimaging to better understand the mechanisms driving loss of motivation in the general population and patients with Huntington’s disease. A better understanding of the neural mechanisms underpinning motivated behaviour may guide new treatments for apathy, a common and disabling symptom of many neuropsychiatric conditions. Before moving to UCL, Akshay was a NIHR-funded Academic Clinical Fellow at the Institute of Psychiatry (KCL) where he did research in schizophrenia and Alzheimer’s disease. He completed his medical degree, and an intercalated degree in neuroscience, at Oxford University. He is currently the clinical lead for the HD Neuropsychiatry clinic at the NHNN.

Grace O’Regan – PhD Student

Grace is an MRC-funded PhD student at the UCL Institute of Neurology. She studied Neuroscience at the University of Edinburgh, graduating in 2015, having completed a number of research projects. Specifically she undertook research into the gene regulatory interactions that underlie the early development of the cerebral cortex, investigations into the relationship between the blood brain barrier and the immune system, as well as analysis of the efficacy of intranasal application of drugs for social anxiety.

For her PhD Grace is now investigating the role of huntingtin in innate immune cells as a modifier of HD. It is hoped that this work will improve our understanding of the innate immune system in HD pathogenesis and identify possible therapeutic opportunities.

 

Gail Owen – Trials Manager

Gail has been involved in clinical research since 1995, and before joining the UCL Institute of Neurology worked both in industry and with the military. She graduated in psychology and has a PhD in biomedical sciences. She joined the HD research team in 2009, and is clinical trial manager for Dr Wild’s HDClarity study.

Marina Papoutsi – Research Associate

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Marina is a Research Fellow at UCL Institute of Neurology. She has a BA(Hons) degree in Linguistics (University of Athens, GR) followed by MSc degrees in Cognitive Science and Neuroinformatics (University of Edinburgh). For her PhD (University of Edinburgh in collaboration with NIDCD/NIH) she examined the role of the LIFG (aka Broca’s area) in articulation using fMRI. As a post-doc at  the University of Cambridge she examined functional brain re-organization in speech comprehension following acquired brain damage (e.g. stroke) and in healthy ageing. She joined the Track-HD team in December 2011 and is interested in cortical re-organization as a biomarker for HD in premanifest patients.

Danieal Rae – Senior Clinical Nurse Specialist

Daniela

Daniela is a Senior Clinical Nurse Specialist in HD at the Huntington ’s Disease Centre and UCLH National Hospital for Neurology and Neurosurgery. She joined the team in February 2018 from Aberdeen, Scotland where she previously runs a nurse-led HD management clinic in Grampian and Highland caring for at risk and symptomatic individuals with HD and their families.

She is currently in the final year of her PhD in Health Services Research at the University of Aberdeen. She was awarded a Chief Scientist Office (CSO) Research Training Fellowship in Huntington’s Disease (HD) to undertake research into the organisational aspects of care delivery in early and mid-stage HD with a focus of identifying outcomes of importance for use in future evaluations of care delivery in HD. She also chairs the European Huntington’s Disease Networks Standards of Care Working Group.

Rachael Scahill – Principal Research Associate

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Rachael is a Principal Research Fellow at the Centre. After a first degree in Zoology at Oxford and an MSc in Computing, she completed a PhD at UCL examining early changes in patients with Alzheimer’s disease using structural MRI. She joined the HD team in 2008, leading the imaging team on the TRACK-HD and Track-On projects. Now part of the Wellcome Trust funded TREAT-HD project, working on both the gene silencing trial and the HD-YAS study, she is investigating novel imaging methods to determine the sites of earliest structural brain changes in HD and the effects of mutant huntingtin lowering therapies. Rachael has published over 100 peer-reviewed papers, lectures on undergraduate and Masters courses and is one of the Departmental Graduate Tutors for the Department of Neurodegeneration.

Paul Zeun – Research Associate

Paul is a clinical research fellow at the Centre and an Honorary Specialist registrar in Neurology at the National Hospital of Neurology and Neurosurgery. He studied medicine at Brighton & Sussex medical school and was a neurology registrar at Southampton before joining the HD research team in 2017. His primary research focus is the study of young adult HD gene carriers (the HD YAS study) and he also works on the Roche Huntingtin lowering clinical trial.

Updated November 15, 2018