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23 Feb 2024: Loading. Menu. Menu. Search. Elena Conci. Elena Conci. Elena Conci is an Honorary Clinical Research Fellow, actively engaged in various clinical trials within the department. She is a contributing investigator for the Falcon (Abliva), SPIMD-301

23 Feb 2024: Loading. Menu. Menu. Search. Katherine Schon. Katherine Schon. Katherine Schon. Katherine Schon is an NIHR-funded Academic Clinical Lecturer in the Department of Medical Genetics. She is in her final year of specialist training in Clinical Genetics.

23 Feb 2024: Loading. Menu. Menu. Search. Elizabeth Ashby. Elizabeth Ashby. Elizabeth Ashby recently joined the MitoCamb research group as a Clinical Research Coordinator. She graduated from the University of Birmingham in 2020 with a B.Sc in Biomedical Science.

23 Feb 2024: Loading. Menu. Menu. Search. Previous staff members. Previous staff members. Join us at @CUH_NHS (Addenbrookes Outpatients) on #RareDiseaseDay morning (29 Feb)! Find out about what we do to unite patients, advocates, experts & leaders in

23 Feb 2024: in 2019, and is responsible for overseeing the group’s clinical research, from grants, finance, and HR, to the ethical and R&D set up of new research projects.

23 Feb 2024: Loading. Menu. Menu. Search. Katrina Dedman. Katrina Dedman. Katrina Dedman. Katrina Dedman is both academic and NHS secretary to Professor Patrick Chinnery. She has been in the department for over 30 years and is key to its operation! Katrina has

23 Feb 2024: Loading. Menu. Menu. Search. Emma Harrison. Emma Harrison. Emma Harrison. Emma Harrison is the Data Manager for the MitoCamb research group. After completing her undergraduate degree in psychology, she spent several years working within the NHS and

23 Feb 2024: Loading. Menu. Menu. Search. May Yung Tiet. May Yung Tiet. May Yung Tiet. May Yung Tiet is an Honorary Clinical Research Associate studying the role of mitochondrial dysfunction in Ataxia-Telangiectasia. She completed her BSc (Hons) Biomedical

23 Feb 2024: Loading. Menu. Menu. Search. Catarina Olimpio. Catarina Olimpio. Catarina Olimpio. Catarina Olimpio is a Clinical Genetics specialty registrar at Cambridge University Hospitals currently working with Professor Horvath on a retrospective study of

23 Feb 2024: Loading. Menu. Menu. Search. INTERVIEW: International LHON Awareness Day. INTERVIEW: International LHON Awareness Day. Posted. September 19, 2022. /. Updated November 1, 2023. bytook part in an interview on International LHON Awareness Day (19th

23 Feb 2024: She developed a new service in Newcastle for patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT). ... Jellevda @HorvathLab @MRC_MBU @MRCMouseNetwork. We are hiring! More details here👇🏻👇🏻. NEWS & VIEWS | Hathazi &

23 Feb 2024: Loading. Menu. Menu. Search. Dr Jelle van den Ameele. Dr Jelle van den Ameele. Jelle van den Ameele is an Honorary Consultant Neurologist. He grew up in the historic town of Bruges in Belgium and went to medical school at Ghent University, where he

23 Feb 2024: Loading. Menu. Menu. Search. Survey Studies. Survey Studies. Please see below for further details on our studies that are designed to assess patient experience. All. Survey. Nothing found. Join us at @CUH_NHS (Addenbrookes Outpatients) on

23 Feb 2024: Loading. Menu. Menu. Search. Treatment Studies. Treatment Studies. Please see below for further details on our studies that are designed to examine possible treatments. All. Treatment. Nothing found. Join us at @CUH_NHS (Addenbrookes Outpatients) on

23 Feb 2024: Loading. Menu. Menu. Search. Measuring Studies. Measuring Studies. Please see below for further details on our studies that aim to measure disease burden. Please click text below to find out more. Join us at @CUH_NHS (Addenbrookes Outpatients) on

23 Feb 2024: Loading. Menu. Menu. Search. Understanding Studies. Understanding Studies. Our studies that aim to further understanding of mitochondrial and neurodegenerative diseases. All. Understanding. Nothing found. Join us at @CUH_NHS (Addenbrookes Outpatients

23 Feb 2024: Loading. Menu. Menu. Search. Chloe Seikus. Chloe Seikus. Chloe Seikus. Chloe Seikus joined the Department of Clinical Neurosciences as a research assistant in 2020, where she was responsible for recruiting participants to the groups’ research

23 Feb 2024: the eyes and brain; the impact they have on affected individuals; and how we can modify disease progression with new treatment modalities.

23 Feb 2024: The vast majority of NMDs are single gene disorders. Identifying genetic pathways has led to important advances in disease understanding, patient management and development of new therapies. ... To identify known and new disease genes and assess

23 Feb 2024: In order to develop new treatments for Ataxia-Telangiectasia, we need to find better ways of tracking changes in symptoms caused by the disease (such as by a blood test or

23 Feb 2024: Loading. Menu. Menu. Search. ORION: Outcomes Research in Inherited Optic Neuropathies. ORION: Outcomes Research in Inherited Optic Neuropathies. Status: Open to recruitment. Background. Inherited optic neuropathies (IONs) are a group of heritable

23 Feb 2024: C12orf65 genotype and phenotype, and to develop new clinical trials, observational studies, and eventually treatments. ... participants. This will help us to guide the design of innovative new clinical trials, with the long-term goal of developing

23 Feb 2024: Loading. Menu. Menu. Search. The role of Nicotinamide Riboside in mitochondrial biogenesis (NR). The role of Nicotinamide Riboside in mitochondrial biogenesis (NR). Status: Closed to recruitment. In analysis. Background. Mitochondria are important

23 Feb 2024: A genetic diagnosis is extremely important because it allows doctors to provide accurate genetic counselling to patients and their families and opens up opportunities to develop new treatments. ... Tissue Sample Sub-study. Objectives. We hope to develop

23 Feb 2024: Loading. Menu. Menu. Search. FALCON study: Efficacy of KL1333 in adult patients with primary mitochondrial disease. FALCON study: Efficacy of KL1333 in adult patients with primary mitochondrial disease. Status: Closed to recruitment, treatment-phase

23 Feb 2024: Loading. Menu. Menu. Search. The effects of oxygen in the context of mitochondrial dysfunction (Mitox). The effects of oxygen in the context of mitochondrial dysfunction (Mitox). Status: Closed to recruitment. In analysis. Background. Oxygen is

23 Feb 2024: Status: Closed to new recruitment. Active for enrolled patients. Background. Autosomal Dominant Optic Atrophy (ADOA) is caused primarily by mutations in the OPA1 gene found on Chromosome 3.

23 Feb 2024: Loading. Menu. Menu. Search. BioResource: Genes and Cognition – Establishing a stratified population cohort of 40,000 people recallable for pre-clinical studies of neurodegeneration and dementia. BioResource: Genes and Cognition – Establishing a

23 Feb 2024: What is involved? We will ask participants to help us develop and test a new questionnaire. ... We may also ask participants to provide feedback on the questions that we have developed for the new questionnaire.

23 Feb 2024: Loading. Menu. Menu. Search. 11C]PK11195 PET as a biomarker to diagnose and monitor natural history in mitochondrial disease. 11C]PK11195 PET as a biomarker to diagnose and monitor natural history in mitochondrial disease. Status: Open to

23 Feb 2024: Loading. Menu. Menu. 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. Status: Closed to recruitment,

23 Feb 2024: Loading. Menu. Menu. Search. Understanding the progression over time of hereditary spastic paraplegia (HSP), ataxia and related conditions (PROSPAX). Understanding the progression over time of hereditary spastic paraplegia (HSP), ataxia and related

23 Feb 2024: Loading. Menu. Menu. Search. DefINe: A randomised, double-blind, placebo-controlled trial examining the safety and efficacy of deferiprone in patients with neuroferritinopathy. DefINe: A randomised, double-blind, placebo-controlled trial examining

23 Feb 2024: Loading. Menu. Menu. Search. OSPREY Study: A Phase I, Open-Label Study to Investigate Antisense Oligonucleotide STK-002 in Patients with ADOA. OSPREY Study: A Phase I, Open-Label Study to Investigate Antisense Oligonucleotide STK-002 in Patients