Sarah Tabrizi

Last updated

Sarah Joanna Tabrizi
FMedSci FRS
Prof Sarah Tabrizi Royal Society Portrait.jpg
Sarah Tabrizi in July 2024
Born
London, UK
Alma mater Heriot-Watt University
University of Edinburgh
University College London
Known forResearch into neurodegeneration, particularly Huntington's disease
Spouse Michael Nath
Awards Fellowship of the Academy of Medical Sciences, 2014
MRC Millennium Medal, 2022
Fellowship of the Royal Society, 2024
National Academy of Medicine, 2024
Scientific career
Fields Neuroscience
Institutions UCL Institute of Neurology;
National Hospital for Neurology and Neurosurgery
Thesis Mitochondrial dysfunction in the pathogenesis of neurodegeneration  (2000)
Website https://www.ucl.ac.uk/ion/research/research-centres/hd-centre

Sarah Joanna Tabrizi FMedSci FRS is a British neurologist and neuroscientist in the field of neurodegeneration, particularly Huntington's disease. She is a Professor and Joint Head of the Department of Neurodegenerative Diseases [1] at the UCL Institute of Neurology; the founder and Director of the UCL Huntington's Disease Centre; a Principal Investigator at the UK Dementia Research Institute at UCL; and an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square, London, where she established the Multidisciplinary Huntington's Disease Clinic. [2] [3] [4] The UCL Huntington’s Disease Centre was officially opened on 1 March 2017 by UCL President and Provost Professor Michael Arthur. [5]

Contents

Education and career

Tabrizi graduated with a first-class degree in biochemistry from Heriot-Watt University in 1986 and an MB ChB from the University of Edinburgh in 1992, where she graduated with the Gold Medal (Ettles Scholar) for the most distinguished medical graduate. [2] She obtained a PhD at University College London in 2000. [6] During her time as a trainee neurologist at the National Hospital for Neurology and Neurosurgery (NHNN), Queen Square, Sarah worked for Professors Anita Harding and David Marsden, both of whom would make a lasting impression on her. [7] She undertook an MRC Clinical Training Fellowship PhD studying mitochondrial dysfunction in neurodegeneration with Tony Schapira and Gillian Bates from 1996 to 1999 then obtained a Department of Health National Clinician Scientist Fellowship at the UCL Institute of Neurology in 2002 to work with John Collinge and Charles Weissmann on prion cell biology. She was promoted to UCL Clinical Senior Lecturer and Honorary Consultant Neurologist in 2003, to Reader in 2007 and Full Professor in 2009. [8]

Research

Tabrizi is distinguished for her work on mechanisms of cellular neurodegeneration [9] [10] [11] [12] [13] and in particular Huntington's disease mechanistic pathobiology, novel therapeutics, biomarkers, outcome measures and first in human clinical trials. [14] [15] Amongst her achievements, she has identified key pathogenic mechanisms in cellular degeneration in prion disease, [16] [17] [18] identified a key role for the innate immune system in the pathogenesis of Huntington’s disease, [19] published the first assay of the mutant HD protein, [20] and designed and led two major, international, influential research initiatives, TRACK-HD and Track-On HD. To date these studies have yielded fundamental new insights into the preclinical phase of neurodegeneration in Huntington’s disease including identifying predictors of disease onset, [21] [22] [23] [24] [25] [26] [27] progression, evidence of brain compensation and plasticity and neurobiological changes occurring twenty years before predicted disease onset, and her work established a battery of clinical trial outcome measures now being used in global clinical trials. [28] [21] [22] [23] [24] [29] In 2017, her work identified an important new genetic modifier of disease progression in Huntington’s disease (MSH3, a mismatch repair protein), which has opened up new avenues of research into targeting DNA repair pathways as possible therapeutics for Huntington’s disease. [30] [31] [32] A major focus of her research now is to build understanding of how different DNA repair mechanisms are involved in modifying the development of Huntington’s disease. This knowledge to develop novel therapeutic approaches that could stop, slow down or reverse the progression of the disease by targeting the somatic expansion of the CAG repeat tract. [33] [34] [35]

Tabrizi gave a keynote presentation at the 2016 Google Zeitgeist Minds conference about her research, and the prospect of gene silencing for neurodegenerative disease. [36] She was the global lead Clinical Investigator for the first clinical trial of a 'gene silencing' or huntingtin-lowering antisense oligonucleotide (ASO) drug in Huntington's disease patients. The announcement of the ‘top line’ results from the Phase 1b/2a safety trial in December 2017 received widespread national and international media coverage and was covered in features by BBC News, [37] Guardian [38] and Nature. [39] In May 2019 the full results were published in The New England Journal of Medicine. [40] [41]

The potential of antisense oligonucleotides to treat neurodegenerative diseases was reviewed by Tabrizi in Science in 2020. [42] Tabrizi is currently working on several different approaches to treat Huntington’s disease, including testing novel ASOs targeting MSH3 to slow CAG repeat expansion, allele-selective approaches to target mutant HTT only, and new gene therapy approaches targeting the mutant HD gene. [43]

In 2020, Tabrizi published the Huntington’s Disease Young Adult Study (HD-YAS) studying premanifest HD gene carriers approximately 24 years from predicted onset of clinical symptoms using advanced neuroimaging, detailed cognitive testing and biofluid collection. [44] The cohort did not show any clinically meaningful functional impairment, yet there was evidence of elevated levels of neurofilament light protein, suggestive of very early neuronal damage, in those closest to expected symptom onset. HD-YAS will provide critical information on the very earliest signs of neurodegeneration, identifying a time at which a therapy could potentially be introduced to delay or even ultimately prevent the onset of clinical symptoms in HD. [44] This approach has implications beyond HD, providing a model for disease prevention in neurodegeneration and this work continues to be of major interest in the Tabrizi lab. [45]

In 2022, alongside colleagues at the HD Regulatory Science Consortium and CHDI, Tabrizi developed a novel staging framework, the Huntington’s Disease Integrated Staging System (HD-ISS), that assesses the progression of disease from birth. [46] Similar to the cancer staging system, the HD-ISS defines HD in four stages, from 0-3, and also biologically defines the disease as the presence of the HTT CAG repeat mutation. This will allow clinical trials much earlier in course of the disease process, and well in advance of when people show signs and symptoms of the disease, allowing the possibility of disease prevention in the future.

Tabrizi was the subject of profile articles in The Lancet in 2012 and The Lancet Neurology in 2017. [47] [48]

As of May 2024, Tabrizi had authored over 380 publications, with over 39,000 citations for her research. [49]

Awards and honours

Personal life

Tabrizi lives in London with her husband, the author Michael Nath. [6]

Related Research Articles

<span class="mw-page-title-main">Huntington's disease</span> Inherited neurodegenerative disorder

Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly inherited. The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities. A general lack of coordination and an unsteady gait often follow. It is also a basal ganglia disease causing a hyperkinetic movement disorder known as chorea. As the disease advances, uncoordinated, involuntary body movements of chorea become more apparent. Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk. Mental abilities generally decline into dementia, depression, apathy, and impulsivity at times. The specific symptoms vary somewhat between people. Symptoms usually begin between 30 and 50 years of age, and can start at any age but are usually seen around the age of 40. The disease may develop earlier in each successive generation. About eight percent of cases start before the age of 20 years, and are known as juvenile HD, which typically present with the slow movement symptoms of Parkinson's disease rather than those of chorea.

<span class="mw-page-title-main">Multiple sclerosis</span> Disease that damages the myelin sheaths around nerves

Multiple sclerosis (MS) is an autoimmune disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged. Being a demyelinating disease, MS disrupts the ability of parts of the nervous system to transmit signals, resulting in a range of signs and symptoms, including physical, mental, and sometimes psychiatric problems. Symptoms include double vision, vision loss, eye pain, muscle weakness, and loss of sensation or coordination. MS takes several forms, with new symptoms either occurring in isolated attacks or building up over time. In relapsing forms of MS, between attacks, symptoms may disappear completely, although some permanent neurological problems often remain, especially as the disease advances. In progressive forms of MS, bodily function slowly deteriorates once symptoms manifest and will steadily worsen if left untreated.

<span class="mw-page-title-main">Kuru (disease)</span> Rare neurodegenerative disease caused by prions

Kuru is a rare, incurable, and fatal neurodegenerative disorder that was formerly common among the Fore people of Papua New Guinea. Kuru is a form of prion disease which leads to tremors and loss of coordination from neurodegeneration.The term kúru means “trembling” and comes from the Fore word kuria or guria. It is also known as the "laughing sickness" due to the pathologic bursts of laughter which are a symptom of the infection.

<span class="mw-page-title-main">Pridopidine</span> Chemical compound

Pridopidine is an orally administrated small molecule investigational drug. Pridopidine is a selective and potent Sigma-1 Receptor agonist. It is being developed by Prilenia Therapeutics and is currently in late-stage clinical development for Huntington's disease (HD) and amyotrophic lateral sclerosis (ALS).

NeuroSearch A/S is a Danish biotechnology company specializing in pharmaceuticals for treating diseases and disorders affecting the central nervous system (CNS).

<span class="mw-page-title-main">PBT2</span> Chemical compound

PBT2 is a safe-for-human-use Zinc ionophore and an experimental drug candidate. It is a second-generation 8-hydroxyquinoline analog intended to be a successor to clioquinol and a potential treatment of Alzheimer's disease and Huntington's disease.

Neurodegeneration with brain iron accumulation is a heterogenous group of inherited neurodegenerative diseases, still under research, in which iron accumulates in the basal ganglia, either resulting in progressive dystonia, parkinsonism, spasticity, optic atrophy, retinal degeneration, neuropsychiatric, or diverse neurologic abnormalities. Some of the NBIA disorders have also been associated with several genes in synapse and lipid metabolism related pathways. NBIA is not one disease but an entire group of disorders, characterized by an accumulation of brain iron, sometimes in the presence of axonal spheroids in the central nervous system.

<span class="mw-page-title-main">Autoimmune encephalitis</span> Type of encephalitis

Autoimmune encephalitis (AIE) is a type of encephalitis, and one of the most common causes of noninfectious encephalitis. It can be triggered by tumors, infections, or it may be cryptogenic. The neurological manifestations can be either acute or subacute and usually develop within six weeks. The clinical manifestations include behavioral and psychiatric symptoms, autonomic disturbances, movement disorders, and seizures.

Florbetaben, sold under the brand name Neuraceq, is a diagnostic radiotracer developed for routine clinical application to visualize β-amyloid plaques in the brain. It is a fluorine-18 (18F)-labeled stilbene derivative.

Huntington's disease-like syndromes are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD) in that they typically produce a combination of chorea, cognitive decline or dementia and behavioural or psychiatric problems.

<span class="mw-page-title-main">Verubecestat</span> Chemical compound

Verubecestat (MK-8931) was an experimental drug for the treatment of Alzheimer's disease. It is an inhibitor of beta-secretase 1 (BACE1), which, after initial promise proved disappointing.

Mary M. Reilly FRCP is an Irish neurologist who works at National Hospital for Neurology and Neurosurgery. She studies peripheral neuropathy. She is the President of the Association of British Neurologists.

Merit Cudkowicz is an American neurologist and neuroscientist who studies amyotrophic lateral sclerosis (ALS). Cudkowicz is Julieanne Dorn Professor of Neurology at Harvard Medical School, director of the ALS clinic and the Neurological Clinical Research Institute at Massachusetts General Hospital (MGH), and chair of the Department of Neurology at MGH. Cudkowicz has led several large-scale collaborations and clinical trials to test novel treatments for ALS and as of 2020, researching ways to detect early biomarkers of ALS to improve diagnosis.

<span class="mw-page-title-main">Ava Easton</span> Health scientist and researcher

Ava Easton is a health scientist and researcher who specialises in encephalitis, acquired brain injury and narrative medicine, and is considered a world expert in her field of Encephalitis patient outcomes and quality of life. She is the current Chief Executive of The Encephalitis Society, a non-profit organisation which provides support and resources for those affected by the neurological disease of Encephalitis, and collaborates with various organisations on research into the disease.

Rachelle Smith Doody is an American neurologist and neuroscientist. She is known for her work on late stage development of drugs for Alzheimer’s disease, Parkinson’s disease, Huntington’s disease and other neurodegenerative disorders.

<span class="mw-page-title-main">Edward Wild (neuroscientist)</span> British neurologist

Edward Wild, also known as Ed Wild, is a British neurologist and neuroscientist in the field of Huntington's disease and an advocate for scientific outreach to the public. He co-founded the Huntington's research news platform HDBuzz in 2010. He is a professor of neurology at UCL Institute of Neurology and is an associate director of the UCL Huntington's Disease Centre. He is also a consultant neurologist at the National Hospital for Neurology and Neurosurgery in London.

<span class="mw-page-title-main">Bernhard Landwehrmeyer</span> German neurologist and neuroscientist (born 1960)

Georg Bernhard Landwehrmeyer FRCP is a German neurologist and neuroscientist in the field of neurodegeneration primarily focusing on Huntington's disease. Landwehrmeyer is a professor of neurology at Ulm University Hospital. He was one of the founders of the European Huntington's Disease Network (EHDN) in 2004 and was chairman of its executive committee until 2014.

David John Werring is a British physician, neurologist, and academic specialising in stroke. He is professor of Neurology at the UCL Queen Square Institute of Neurology and current head of Stroke Research Centre and the department of Brain Repair & Rehabilitation at UCL.

Howard H Feldman is a professor of neurosciences at the University of California, San Diego (UCSD). He was appointed director of the Alzheimer's Disease Cooperative Study (ADCS) in April 2016, a national grant-funded network and coordinating center that was established in 1991. He holds the Epstein Family Chancellor’s Chair in Alzheimer’s Disease Research at UC San Diego. Prior to joining UC San Diego, he was on faculty at University of British Columbia where he served as the Head of the Division of Neurology, the Director of the Alzheimer’s and Related Disorders Clinic and the Executive Associate Dean for Research for the Faculty of Medicine.

Cathy Maree Stinear is a New Zealand clinical neuroscientist, and is a full professor at the University of Auckland, specialising in stroke rehabilitation and techniques for prediction of stroke recovery. She was appointed Chair of the Neurological Foundation in 2021, and is the first woman to chair the organisation.

References

  1. ↑ "Department of Neurodegenerative Disease". UCL Institute of Neurology. 2 August 2018.
  2. 1 2 "Iris View Profile". IRIS - UCL. Retrieved 5 May 2016.
  3. ↑ "UCL Huntington's Disease Research". hdresearch.ucl.ac.uk.
  4. ↑ "Prof Sarah Tabrizi". www.uclh.nhs.uk. Archived from the original on 31 August 2022. Retrieved 5 May 2016.
  5. ↑ "The UCL Huntington's Disease Centre opens". 2 March 2017.
  6. 1 2 3 "Who's Who 2016 - Tabrizi, Prof. Sarah Joanna". Who's Who 2016. Retrieved 6 May 2016.
  7. ↑ Shetty, Priya (2012). "Sarah Tabrizi: Tracking Huntington's disease". The Lancet. 379 (9831): 2043. doi:10.1016/S0140-6736(12)60884-8. PMID   22656876. S2CID   40222846.
  8. ↑ "Professor Sarah J Tabrizi". UCL Iris.
  9. ↑ Deriziotis, Pelagia; André, Ralph; Smith, David M; Goold, Rob; Kinghorn, Kerri J; Kristiansen, Mark; Nathan, James A; Rosenzweig, Rina; Krutauz, Dasha; Glickman, Michael H; Collinge, John; Goldberg, Alfred L; Tabrizi, Sarah J (8 July 2011). "Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry". The EMBO Journal. 30 (15): 3065–3077. doi:10.1038/emboj.2011.224. PMC   3160194 . PMID   21743439.
  10. ↑ Kristiansen, Mark; Messenger, Marcus J.; Klöhn, Peter-Christian; Brandner, Sebastian; Wadsworth, Jonathan D. F.; Collinge, John; Tabrizi, Sarah J. (18 November 2005). "Disease-related Prion Protein Forms Aggresomes in Neuronal Cells Leading to Caspase Activation and Apoptosis". Journal of Biological Chemistry. 280 (46): 38851–38861. doi: 10.1074/jbc.M506600200 . PMID   16157591.
  11. ↑ Kristiansen, Mark; Deriziotis, Pelagia; Dimcheff, Derek E.; Jackson, Graham S.; Ovaa, Huib; Naumann, Heike; Clarke, Anthony R.; van Leeuwen, Fijs W.B.; Menéndez-Benito, Victoria; Dantuma, Nico P.; Portis, John L.; Collinge, John; Tabrizi, Sarah J. (April 2007). "Disease-Associated Prion Protein Oligomers Inhibit the 26S Proteasome". Molecular Cell. 26 (2): 175–188. doi:10.1016/j.molcel.2007.04.001. hdl: 11858/00-001M-0000-0012-2650-5 . PMID   17466621.
  12. ↑ Goold, R.; Rabbanian, S.; Sutton, L.; Andre, R.; Arora, P.; Moonga, J.; Clarke, A.R.; Schiavo, G.; Jat, P.; Collinge, J.; Tabrizi, S.J. (19 April 2011). "Rapid cell-surface prion protein conversion revealed using a novel cell system". Nature Communications. 2 (1): 281–. Bibcode:2011NatCo...2..281G. doi:10.1038/ncomms1282. PMC   3104518 . PMID   21505437.
  13. ↑ McKinnon, Chris; Goold, Rob; Andre, Ralph; Devoy, Anny; Ortega, Zaira; Moonga, Julie; Linehan, Jacqueline M.; Brandner, Sebastian; Lucas, José J.; Collinge, John; Tabrizi, Sarah J. (8 December 2015). "Prion-mediated neurodegeneration is associated with early impairment of the ubiquitin–proteasome system". Acta Neuropathologica. 131 (3): 411–425. doi:10.1007/s00401-015-1508-y. PMC   4752964 . PMID   26646779.
  14. ↑ Shetty, Priya (2012). "Sarah Tabrizi: Tracking Huntington's disease". The Lancet. 379 (9831): 2043. doi:10.1016/S0140-6736(12)60884-8. PMID   22656876. S2CID   40222846.
  15. ↑ Mohammadi, Dara (July 2015). "Fast-forwarding treatment for neurodegenerative disorders". The Lancet Neurology. 14 (7): 687–688. doi: 10.1016/S1474-4422(15)00110-6 . PMID   26067120.
  16. ↑ Deriziotis, Pelagia; André, Ralph; Smith, David M; Goold, Rob; Kinghorn, Kerri J; Kristiansen, Mark; Nathan, James A; Rosenzweig, Rina; Krutauz, Dasha; Glickman, Michael H; Collinge, John (8 July 2011). "Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry". The EMBO Journal. 30 (15): 3065–3077. doi:10.1038/emboj.2011.224. ISSN   0261-4189. PMC   3160194 . PMID   21743439.
  17. ↑ Kristiansen, Mark; Deriziotis, Pelagia; Dimcheff, Derek E.; Jackson, Graham S.; Ovaa, Huib; Naumann, Heike; Clarke, Anthony R.; van Leeuwen, Fijs W.B.; Menéndez-Benito, Victoria; Dantuma, Nico P.; Portis, John L. (April 2007). "Disease-Associated Prion Protein Oligomers Inhibit the 26S Proteasome". Molecular Cell. 26 (2): 175–188. doi:10.1016/j.molcel.2007.04.001. hdl: 11858/00-001M-0000-0012-2650-5 . PMID   17466621.
  18. ↑ Kristiansen, Mark; Messenger, Marcus J.; Klöhn, Peter-Christian; Brandner, Sebastian; Wadsworth, Jonathan D. F.; Collinge, John; Tabrizi, Sarah J. (18 November 2005). "Disease-related Prion Protein Forms Aggresomes in Neuronal Cells Leading to Caspase Activation and Apoptosis". Journal of Biological Chemistry. 280 (46): 38851–38861. doi: 10.1074/jbc.M506600200 . ISSN   0021-9258. PMID   16157591.
  19. ↑ Björkqvist, Maria; Wild, Edward J; Thiele, Jenny; Silvestroni, Aurelio; Andre, Ralph; Lahiri, Nayana; Raibon, Elsa; Lee, Richard V; Benn, Caroline L; Soulet, Denis; Magnusson, Anna; Woodman, Ben; Landles, Christian; Pouladi, Mahmoud A; Hayden, Michael R; Khalili-Shirazi, Azadeh; Lowdell, Mark W; Brundin, Patrik; Bates, Gillian P; Leavitt, Blair R; Möller, Thomas; Tabrizi, Sarah J (2008). "A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease". The Journal of Experimental Medicine. 205 (8): 1869–77. doi:10.1084/jem.20080178. PMC   2525598 . PMID   18625748.
  20. ↑ Weiss, Andreas; Träger, Ulrike; Wild, Edward J; Grueninger, Stephan; Farmer, Ruth; Landles, Christian; Scahill, Rachael I; Lahiri, Nayana; Haider, Salman; MacDonald, Douglas; Frost, Chris; Bates, Gillian P; Bilbe, Graeme; Kuhn, Rainer; Andre, Ralph; Tabrizi, Sarah J (2012). "Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression". Journal of Clinical Investigation. 122 (10): 3731–6. doi:10.1172/jci64565. PMC   3461928 . PMID   22996692.
  21. 1 2 Tabrizi, Sarah J; Langbehn, Douglas R; Leavitt, Blair R; Roos, Raymund AC; Durr, Alexandra; Craufurd, David; Kennard, Christopher; Hicks, Stephen L; Fox, Nick C; Scahill, Rachael I; Borowsky, Beth; Tobin, Allan J; Rosas, H Diana; Johnson, Hans; Reilmann, Ralf; Landwehrmeyer, Bernhard; Stout, Julie C (2009). "Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: Cross-sectional analysis of baseline data". The Lancet Neurology. 8 (9): 791–801. doi:10.1016/s1474-4422(09)70170-x. PMC   3725974 . PMID   19646924.
  22. 1 2 Tabrizi, Sarah J; Scahill, Rachael I; Durr, Alexandra; Roos, Raymund AC; Leavitt, Blair R; Jones, Rebecca; Landwehrmeyer, G Bernhard; Fox, Nick C; Johnson, Hans; Hicks, Stephen L; Kennard, Christopher; Craufurd, David; Frost, Chris; Langbehn, Douglas R; Reilmann, Ralf; Stout, Julie C; TRACK-HD Investigators (2011). "Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: The 12-month longitudinal analysis". The Lancet Neurology. 10 (1): 31–42. doi:10.1016/s1474-4422(10)70276-3. PMID   21130037. S2CID   2602096.
  23. 1 2 Tabrizi, Sarah J; Reilmann, Ralf; Roos, Raymund AC; Durr, Alexandra; Leavitt, Blair; Owen, Gail; Jones, Rebecca; Johnson, Hans; Craufurd, David; Hicks, Stephen L; Kennard, Christopher; Landwehrmeyer, Bernhard; Stout, Julie C; Borowsky, Beth; Scahill, Rachael I; Frost, Chris; Langbehn, Douglas R; TRACK-HD investigators (2012). "Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: Analysis of 24 month observational data". The Lancet Neurology. 11 (1): 42–53. doi:10.1016/s1474-4422(11)70263-0. PMID   22137354. S2CID   34929053.
  24. 1 2 Tabrizi, Sarah J; Scahill, Rachael I; Owen, Gail; Durr, Alexandra; Leavitt, Blair R; Roos, Raymund A; Borowsky, Beth; Landwehrmeyer, Bernhard; Frost, Chris; Johnson, Hans; Craufurd, David; Reilmann, Ralf; Stout, Julie C; Langbehn, Douglas R (2013). "Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: Analysis of 36-month observational data". The Lancet Neurology. 12 (7): 637–49. doi:10.1016/s1474-4422(13)70088-7. PMID   23664844. S2CID   12204298.
  25. ↑ Klöppel, Stefan; Gregory, Sarah; Scheller, Elisa; Minkova, Lora; Razi, Adeel; Durr, Alexandra; Roos, Raymund A.C; Leavitt, Blair R; Papoutsi, Marina; Landwehrmeyer, G. Bernhard; Reilmann, Ralf; Borowsky, Beth; Johnson, Hans; Mills, James A; Owen, Gail; Stout, Julie; Scahill, Rachael I; Long, Jeffrey D; Rees, Geraint; Tabrizi, Sarah J (2015). "Compensation in Preclinical Huntington's Disease: Evidence from the Track-On HD Study". eBioMedicine. 2 (10): 1420–9. doi:10.1016/j.ebiom.2015.08.002. PMC   4634199 . PMID   26629536.
  26. ↑ Gregory, Sarah; Long, Jeffrey D; Klöppel, Stefan; Razi, Adeel; Scheller, Elisa; Minkova, Lora; Papoutsi, Marina; Mills, James A; Durr, Alexandra; Leavitt, Blair R; Roos, Raymund A. C; Stout, Julie C; Scahill, Rachael I; Langbehn, Douglas R; Tabrizi, Sarah J; Rees, Geraint (2017). "Operationalizing compensation over time in neurodegenerative disease". Brain. 140 (4): 1158–1165. doi:10.1093/brain/awx022. PMC   5382953 . PMID   28334888.
  27. ↑ Gregory, Sarah; Long, Jeffrey D; Klöppel, Stefan; Razi, Adeel; Scheller, Elisa; Minkova, Lora; Johnson, Eileanoir B; Durr, Alexandra; Roos, Raymund A C; Leavitt, Blair R; Mills, James A; Stout, Julie C; Scahill, Rachael I; Tabrizi, Sarah J; Rees, Geraint; Coleman, A; Decolongon, J; Fan, M; Koren, T; Leavitt, B; Durr, A; Jauffret, C; Justo, D; Lehericy, S; Nigaud, K; Valabrègue, R; Roos, R; Hart, E P 't; Schoonderbeek, A; et al. (2018). "Testing a longitudinal compensation model in premanifest Huntington's disease". Brain. 141 (7): 2156–2166. doi:10.1093/brain/awy122. PMC   6022638 . PMID   29788038.
  28. ↑ Shetty, Priya (2012). "Sarah Tabrizi: Tracking Huntington's disease". The Lancet. 379 (9831): 2043. doi:10.1016/s0140-6736(12)60884-8. PMID   22656876. S2CID   40222846.
  29. ↑ Arney, Kat (2018). "Improved metrics for Huntington's disease trials". Nature. 557 (7707): S46–S47. Bibcode:2018Natur.557S..46A. doi:10.1038/d41586-018-05179-w. PMID   29844554. S2CID   256768548.
  30. ↑ Moss, Davina J Hensman; Pardiñas, Antonio F; Langbehn, Douglas; Lo, Kitty; Leavitt, Blair R; Roos, Raymund; Durr, Alexandra; Mead, Simon; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J; Coleman, A; Santos, R Dar; Decolongon, J; Sturrock, A; Bardinet, E; Ret, C Jauff; Justo, D; Lehericy, S; Marelli, C; Nigaud, K; Valabrègue, R; Van Den Bogaard, SJA; Dumas, E M; Van Der Grond, J; t'Hart, EP; Jurgens, C; Witjes-Ane, M-N; Arran, N; et al. (2017). "Identification of genetic variants associated with Huntington's disease progression: A genome-wide association study" (PDF). The Lancet Neurology. 16 (9): 701–711. doi:10.1016/s1474-4422(17)30161-8. PMID   28642124. S2CID   588163.
  31. ↑ Flower, Michael; Lomeikaite, Vilija; Ciosi, Marc; Cumming, Sarah; Morales, Fernando; Lo, Kitty; Hensman Moss, Davina; Jones, Lesley; Holmans, Peter; Monckton, Darren G.; Tabrizi, Sarah J. (1 July 2019). "MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1". Brain. 142 (7): 1876–1886. doi:10.1093/brain/awz115. ISSN   0006-8950. PMC   6598626 . PMID   31216018.
  32. ↑ Tabrizi, Sarah J.; Estevez-Fraga, Carlos; van Roon-Mom, Willeke M. C.; Flower, Michael D.; Scahill, Rachael I.; Wild, Edward J.; Muñoz-Sanjuan, Ignacio; Sampaio, Cristina; Rosser, Anne E.; Leavitt, Blair R. (July 2022). "Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities". The Lancet. Neurology. 21 (7): 645–658. doi:10.1016/S1474-4422(22)00121-1. ISSN   1474-4465. PMC   7613206 . PMID   35716694.
  33. ↑ Goold, Robert; Flower, Michael; Moss, Davina Hensman; Medway, Chris; Wood-Kaczmar, Alison; Andre, Ralph; Farshim, Pamela; Bates, Gill P; Holmans, Peter; Jones, Lesley; Tabrizi, Sarah J (15 February 2019). "FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat". Human Molecular Genetics. 28 (4): 650–661. doi:10.1093/hmg/ddy375. ISSN   0964-6906. PMC   6360275 . PMID   30358836.
  34. ↑ Goold, Robert; Hamilton, Joseph; Menneteau, Thomas; Flower, Michael; Bunting, Emma L.; Aldous, Sarah G.; Porro, Antonio; Vicente, José R.; Allen, Nicholas D.; Wilkinson, Hilary; Bates, Gillian P.; Sartori, Alessandro A.; Thalassinos, Konstantinos; Balmus, Gabriel; Tabrizi, Sarah J. (August 2021). "FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease". Cell Reports. 36 (9): 109649. doi:10.1016/j.celrep.2021.109649. PMC   8424649 . PMID   34469738.
  35. ↑ Tabrizi, Sarah J.; Flower, Michael D.; Ross, Christopher A.; Wild, Edward J. (October 2020). "Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities". Nature Reviews Neurology. 16 (10): 529–546. doi:10.1038/s41582-020-0389-4. ISSN   1759-4758. PMID   32796930. S2CID   221129777.
  36. ↑ Tabrizi, Sarah (May 2016). "The Human Revolution". zeitgeistminds.com.
  37. ↑ Gallagher, James (11 December 2017). "Huntington's breakthrough may stop disease". bbc.co.uk.
  38. ↑ Devlin, Hannah (11 December 2017). "Excitement as trial shows Huntington's drug could slow progress of disease". guardian.com.
  39. ↑ Drew, Liam (2018). "How the gene behind Huntington's disease could be neutralized". Nature. 557 (7707): S39–S41. Bibcode:2018Natur.557S..39D. doi:10.1038/d41586-018-05176-z. PMID   29844556. S2CID   256768090.
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  41. ↑ "Full Results from Huntingtin Lowering Antisense Oligonucleotides Trial now published". UCL Queen Square Institute of Neurology. 7 May 2019.
  42. ↑ Leavitt, Blair R.; Tabrizi, Sarah J. (27 March 2020). "Antisense oligonucleotides for neurodegeneration". Science. 367 (6485): 1428–1429. Bibcode:2020Sci...367.1428L. doi:10.1126/science.aba4624. ISSN   0036-8075. PMID   32217715. S2CID   214671177.
  43. ↑ Tabrizi, Sarah J; Estevez-Fraga, Carlos; van Roon-Mom, Willeke M C; Flower, Michael D; Scahill, Rachael I; Wild, Edward J; Muñoz-Sanjuan, Ignacio; Sampaio, Cristina; Rosser, Anne E; Leavitt, Blair R (July 2022). "Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities". The Lancet Neurology. 21 (7): 645–658. doi:10.1016/S1474-4422(22)00121-1. PMC   7613206 . PMID   35716694.
  44. 1 2 Scahill, Rachael I; Zeun, Paul; Osborne-Crowley, Katherine; Johnson, Eileanoir B; Gregory, Sarah; Parker, Christopher; Lowe, Jessica; Nair, Akshay; O'Callaghan, Claire; Langley, Christelle; Papoutsi, Marina (June 2020). "Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis". The Lancet Neurology. 19 (6): 502–512. doi:10.1016/S1474-4422(20)30143-5. PMC   7254065 . PMID   32470422.
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  47. ↑ Shetty, Priya (2 June 2012). "Sarah Tabrizi: tracking Huntington's disease". The Lancet. 379 (9831): 2043. doi:10.1016/S0140-6736(12)60884-8. ISSN   0140-6736. PMID   22656876. S2CID   40222846.
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  50. ↑ https://nam.edu/national-academy-of-medicine-elects-100-new-members-2024//
  51. ↑ https://royalsociety.org/news/2024/05/new-fellows-2024/
  52. ↑ UCL (5 June 2023). "Professor Sarah Tabrizi receives the 2023 Arvid Carlsson Award". UCL Queen Square Institute of Neurology. Retrieved 5 June 2023.
  53. ↑ "MRC announces Millennium Medal winners and Impact Prize finalists". www.ukri.org. 8 December 2022. Retrieved 13 December 2022.
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  55. ↑ "Programme and Speakers - AoPGBI" . Retrieved 24 June 2022.
  56. ↑ UCL (5 November 2019). "Co-Heads of Department awarded Alexander Morison medal in successive years". UCL Queen Square Institute of Neurology. Retrieved 6 November 2019.
  57. ↑ UCL (31 October 2019). "Professor Sarah Tabrizi receives Yahr award at World Congress of Neurology 2019". UCL Queen Square Institute of Neurology. Retrieved 6 November 2019.
  58. ↑ "Professor Sarah Tabrizi, UCL Queen Square Institute of Neurology, receives the 2018 Cotzias Award". UCL News. 16 November 2018.
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  60. ↑ "UCL News". ucl.ac.uk. 9 November 2017.
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