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  2. Professor Patrick Chinnery - Cambridge Clinical Mitochondrial…

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/patrick-chinnery/
    23 Feb 2024: iii) defining the critical nuclear-mtDNA interactions responsible for mitochondrial disorders and their variable phenotype in patients. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  3. Clinical Vision Lab Research - Cambridge Clinical Mitochondrial…

    https://mitocamb.medschl.cam.ac.uk/clinical-vision-lab/our-research/
    23 Feb 2024: PROSPAX: Understanding the progression over time of hereditary spastic paraplegia (HSP), ataxia and related conditions. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  4. Survey Studies - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/survey-studies/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  5. Our staff - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  6. Our Testing Capability - Cambridge Clinical Mitochondrial Research…

    https://mitocamb.medschl.cam.ac.uk/clinical-vision-lab/our-testing-capability/
    23 Feb 2024: SPECTRALIS Optical Coherence Tomography (OCT), including NSite Analytics Module and Glaucoma Module Premium Edition [Heidelberg]. ... Fundus photography. Automated perimetry/visual field test. Optic nerve and retinal OCT imaging.
  7. Treatment Studies - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/treatment-studies/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  8. Professor Yu Wai Man - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/patrick-yu-wai-man/
    23 Feb 2024: The group is also using transgenic zebrafish models to study the mechanisms leading to retinal and optic nerve degeneration. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  9. Measuring Studies - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/measuring-studies/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  10. Rahul Makam - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/rahul-makam/
    23 Feb 2024: His research focusses on inherited optic neuropathies to order to develop our understanding of disease biology and advanced therapies. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  11. About the Clinical Vision Lab - Cambridge Clinical Mitochondrial…

    https://mitocamb.medschl.cam.ac.uk/clinical-vision-lab/about-the-clinical-vision-lab/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  12. David Wong - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/david-wong/
    23 Feb 2024: He is using multiple high throughput sequencing technologies to understand the links between genotype and phenotype. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  13. Understanding Studies - Cambridge Clinical Mitochondrial Research…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/
    23 Feb 2024: Search. Understanding Studies. Understanding Studies. Our studies that aim to further understanding of mitochondrial and neurodegenerative diseases. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back
  14. Riddhima Gautam - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/riddhima-gautam/
    23 Feb 2024: She grew up in Nepal and moved to India in 2015, where she did her Bachelors in Clinical Optometry. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  15. Katherine Schon - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/katherine-schon/
    23 Feb 2024: Katherine’s research focuses on the molecular diagnosis, natural history and treatment of mitochondrial disorders. ... She is also interested in Ataxia-Telangiectasia and Congenital Insensitivity to Pain Horvath.
  16. Elena Conci - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/elena-conci/
    23 Feb 2024: Elena successfully completed her training in Internal Medicine (MRCP) and continues to practice as a medical doctor. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  17. ORION: Outcomes Research in Inherited Optic Neuropathies - Cambridge…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/orion-outcomes-research-in-inherited-optic-neuropathies/
    23 Feb 2024: The most common primary IONs are autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON). ... Complete all study assessments, including medical history, physical examinations, quality of life questionnaires and visual
  18. Previous staff members - Cambridge Clinical Mitochondrial Research…

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/previous-staff-members/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  19. TREAT-AT: Trial REadiness in Ataxia Telangiectasia - Cambridge…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/treat-at-trial-readiness-in-ataxia-telangiectasia/
    23 Feb 2024: AT affects those who have it in many different ways and it is quite variable between individuals. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  20. Elizabeth Ashby - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/elizabeth-ashby/
    23 Feb 2024: At UoB, she worked within the Institute of Immunology and Immunotherapy on a project investigating novel immunostimulatory prodrugs. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  21. Katrina Dedman - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/katrina-dedman/
    23 Feb 2024: She has been in the department for over 30 years and is key to its operation! ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  22. The role of Nicotinamide Riboside in mitochondrial biogenesis (NR) -…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/treatment-studies/the-role-of-nicotinamide-riboside-in-mitochondrial-biogenesis-nr/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  23. Emma Harrison - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/emma-harrison/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  24. International Centre for Genomic Medicine in Neuromuscular Diseases…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/international-centre-for-genomic-medicine-in-neuromuscular-diseases-icgnmd/
    23 Feb 2024: Research aims. To identify the genetic causes of neuromuscular and other neurogenetic conditions. ... Please give reason for your contact, additional information and/or questions you have.
  25. May Yung Tiet - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/may-yung-tiet/
    23 Feb 2024: She completed her BSc (Hons) Biomedical Science in 2006 and was a Research Associate at the Institute of Cancer Research. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  26. Heather Biggs - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/heather-biggs/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  27. FALCON study: Efficacy of KL1333 in adult patients with primary…

    https://mitocamb.medschl.cam.ac.uk/our-research/clinical-trials/falcon-study-efficacy-of-kl1333-in-adult-patients-with-primary-mitochondrial-disease/
    23 Feb 2024: Individuals experiencing chronic mitochondrial fatigue and myopathy (muscle weakness and/or exercise intolerance). ... Take study medication (KL1333 or placebo) daily in the morning and evening, following instructions provided.
  28. Catarina Olimpio - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/catarina-olimpio/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  29. The effects of oxygen in the context of mitochondrial dysfunction…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/treatment-studies/the-effects-of-oxygen-in-the-context-of-mitochondrial-dysfunction-mitox/
    23 Feb 2024: We will also ask them to provide blood samples and complete cognitive assessments. ... Please give reason for your contact, additional information and/or questions you have.
  30. Dr Jelle van den Ameele - Cambridge Clinical Mitochondrial Research…

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/jelle-van-den-ameele/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  31. BioResource: Genes and Cognition - Establishing a stratified…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/bioresource-genes-and-cognition-establishing-a-stratified-population-cohort-of-40000-people-recallable-for-pre-clinical-studies-of-neurodegeneration-and-dementia/
    23 Feb 2024: Volunteers will be invited to complete online cognitive tests to measure their cognitive function, including attention, reaction time and memory. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  32. Professor Rita Horvath - Cambridge Clinical Mitochondrial Research…

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/rita-horvath/
    23 Feb 2024: cam_mito @HorvathLab @MRC_MBU @MRCMitoCluster Please RT and apply before 4th Feb! ... Jellevda @HorvathLab @MRC_MBU @MRCMouseNetwork. We are hiring! More details here👇🏻👇🏻. NEWS & VIEWS | Hathazi & Horvath (@Cambridge_Uni):.
  33. Genotype and Phenotype in Inherited Neurodegenerative Disease -…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/genotype-and-phenotype-in-inherited-neurodegenerative-disease/
    23 Feb 2024: Search. Genotype and Phenotype in Inherited Neurodegenerative Disease. Genotype and Phenotype in Inherited Neurodegenerative Disease. ... Genotype and Phenotype (G&P) Optional Sub-studies. Sleep and Pain Sub-study. Objectives.
  34. Chloe Seikus - Cambridge Clinical Mitochondrial Research Group

    https://mitocamb.medschl.cam.ac.uk/meet-our-staff/previous-staff-members/chloe-seikus/
    23 Feb 2024: Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back! ... Keynote speakers Joyce Liao, Stanford (US) and Neil Miller, Baltimore (US). Do not miss the deadline and see you in Cambridge!
  35. A prospective natural history study of patients with autosomal…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/a-prospective-natural-history-study-of-patients-with-autosomal-dominant-optic-atrophy-falcon/
    23 Feb 2024: The study visits will involve:. Collecting information about medical history and medical conditions. ... Please give reason for your contact, additional information and/or questions you have.
  36. [11C]PK11195 PET as a biomarker to diagnose and monitor natural…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/measuring-studies/11cpk11195-pet-as-a-biomarker-to-diagnose-and-monitor-natural-history-in-mitochondrial-disease/
    23 Feb 2024: 11C]PK11195 PET as a biomarker to diagnose and monitor natural history in mitochondrial disease. ... Please give reason for your contact, additional information and/or questions you have.
  37. A retrospective study of subjects with a mutation in the…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/a-retrospective-study-of-subjects-with-a-mutation-in-the-c12orf65-gene-causing-complex-charcot-marie-tooth-disease-type-6-cmt6/
    23 Feb 2024: arms and legs (caused by neuropathy), ataxia and in some people, learning difficulties. ... Please give reason for your contact, additional information and/or questions you have.
  38. SPIMD-301: Efficacy and Safety of Elamipretide in Subjects with…

    https://mitocamb.medschl.cam.ac.uk/our-research/clinical-trials/spimd-301-efficacy-and-safety-of-elamipretide-in-subjects-with-primary-mitochondrial-disease/
    23 Feb 2024: Search. SPIMD-301: Efficacy and Safety of Elamipretide in Subjects with Primary Mitochondrial Disease. ... SPIMD-301: Efficacy and Safety of Elamipretide in Subjects with Primary Mitochondrial Disease.
  39. Development of a patient reported outcome measure (PROM) for patients …

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/survey-studies/development-of-a-patient-reported-outcome-measure-prom-for-patients-with-inherited-optic-neuropathy-ion/
    23 Feb 2024: We would like to do this with the help of individuals living with LHON and DOA. ... Please give reason for your contact, additional information and/or questions you have.
  40. Understanding the progression over time of hereditary spastic…

    https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/understanding-the-progression-over-time-of-hereditary-spastic-paraplegia-hsp-ataxia-and-related-conditions-prospax/
    23 Feb 2024: To develop methods to improve the diagnosis and predict the course of these conditions. • ... Relatives (parents/siblings) of affected individuals. Healthy volunteers. Aged 7 years old and above.
  41. DefINe: A randomised, double-blind, placebo-controlled trial…

    https://mitocamb.medschl.cam.ac.uk/our-research/clinical-trials/define-a-randomised-double-blind-placebo-controlled-trial-examining-the-safety-and-efficacy-of-deferiprone-in-patients-with-neuroferritinopathy/
    23 Feb 2024: Please give reason for your contact, additional information and/or questions you have. ... Optic Neuropathies Training Day organised by Prof Patrick Yu-Wai-Man and Miss Brinda Muthusamy is back!
  42. OSPREY Study: A Phase I, Open-Label Study to Investigate Antisense…

    https://mitocamb.medschl.cam.ac.uk/our-research/clinical-trials/osprey-study-a-phase-i-open-label-study-to-investigate-antisense-oligonucleotide-stk-002-in-patients-with-adoa/
    23 Feb 2024: Individuals aged between 18 and 54 years at the time of signing consent. ... Please give reason for your contact, additional information and/or questions you have.

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