Motor Neurone Disease
Academic Press Inc (Verlag)
978-0-443-14116-4 (ISBN)
Professor Dame Pam Shaw is Professor of Neurology at the University of Sheffield and Director of: the Sheffield Institute for Translational Neuroscience (SITraN); the NIHR Sheffield Biomedical Research Centre for Translational Neuroscience; the Sheffield Care and Research Centre for Motor Neuron Disorders and the cross-faculty Sheffield Neuroscience Institute. She is a Clinician Scientist in Neurology, formerly a Wellcome Trust Senior Fellow and an NIHR Senior Investigator. Her team investigates genetic, molecular and neurochemical mechanisms underlying ALS/MND; investigates new therapeutic targets and translates new neuroprotective and symptomatic treatment approaches into the clinic, including genetic therapy approaches. She has active programmes in systematic biosample collection and biomarker identification in ALS/MND. She has authored more than 550 publications (H-index 116). Her research is funded by NIHR, the MRC, Wellcome Trust, MND Association, MyName’5 Doddie Foundation, EU and biotech/pharmaceutical industry partners. From 2009-2016 she initiated and led the national UK Clinical Studies Group for ALS/MND, a clinical research and trials network which links 20 ALS/MND Care and Research Centres. Prof. Shaw has taken part in more than 25 ALS/MND clinical trials, including roles as Chief Investigator and Steering Committee member and also including several academic-led studies. She is an active member of the European Network for the Cure of ALS (ENCALS) and the TRICALS clinical trials platform. My research interests encompass the genetics of neurodegenerative diseases and how gene expression profiling can be used to investigate the pathogenic mechanisms of neurodegeneration and to identify diagnostic and prognostic biomarkers. I have used both Sanger and next generation sequencing (exome and targeted) to screen known and establish novel causative genes in ALS and other neurodegenerative diseases (NDD). Most recently, I demonstrated the value of genetic screening in all patients with ALS, identifying actionable clinical results in patients who would normally not be offered it. I have performed genotype/phenotype correlations to link genetic, clinical, and neuropathological findings with multiple ALS genes including SOD1, TARDBP, FUS, C9ORF72, ANG, OPTN and most recently TBK1. Sampling of CNS and peripheral tissues, as well as animal and cellular models, has been used to establish pathogenic mechanisms involved in both genetic and sporadic ALS. One of these studies established the dysregulation of NRF2, an important cell survival transcription factor, and this is now a therapeutic target for ALS. Expression profiling of CNS, blood, and fibroblast samples from genetic variants of MND and sporadic cases has also identified distinct gene signatures associated with the different genetic subtypes. Variation in miRNAs and other non-coding RNAs are also emerging as potential disease biomarkers. MiRNA profiling in serum and CSF by quantitative PCR, microarrays and small RNA sequencing has determined multiple miRNAs dysregulated in ALS. Finally, gene expression profiling of longitudinal blood samples from patient’s blood samples have established the effect of low-dose interleukin-2 and demonstrated the effect of the drug on the blood transcriptome as well as the patient’s personalized response, demonstrating the importance of a personalized medicine approach for the future.
1. Clinical features, differential diagnosis and pathology
Michael van Es
2. Recent advances in genetics of familial and sporadic ALS
Ammar Al Chalabi
3. Non-coding genome contribution to ALS
John Cooper-Knock
4. Contribution of neurophysiology to the diagnosis and monitoring ALS
James Alix
5. Advances in symptom management and monitoring disease progression
Chris McDermott
6. Use of biomarkers in clinical trials and future developments that will help identify new biomarkers
Andrea Malaspina
7. Application of systems biology to identify therapeutic targets
Janine Kirby and Bryan Traynor
8. Evidence of mitochondrial dysfunction (in ALS) and how to measure it in model systems
Heather Mortiboys and Kurt de Vos
9. Current neuroprotective therapies and future prospects
Pamela Shaw
10. The role of glial cells in ALS
Rickie Patani
11. Dysregulation of RNA biology in ALS
Guillaume Hautbergue
12. New developments in pre-clinical models of ALS to guide translation
Ludo van den Bosch
| Erscheinungsdatum | 02.05.2024 |
|---|---|
| Reihe/Serie | International Review of Neurobiology |
| Verlagsort | San Diego |
| Sprache | englisch |
| Maße | 152 x 229 mm |
| Gewicht | 950 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie |
| Naturwissenschaften ► Biologie ► Humanbiologie | |
| Naturwissenschaften ► Biologie ► Zoologie | |
| ISBN-10 | 0-443-14116-9 / 0443141169 |
| ISBN-13 | 978-0-443-14116-4 / 9780443141164 |
| Zustand | Neuware |
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