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Rare Diseases

Related

  • Webinar Library
    • ALS (Amyotrophic Lateral Sclerosis)
      • Huntington's disease
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              • Cambridge Rare Disease Network Youtube

                ​A rare disease is identified as a disease which affects no more than 1 in 2000 patients. Although each disease affects only a few people, when combined rare diseases affect 3.5-5.9% of the world's population.

                While not all rare diseases are neurological, it is thought that a third of all 6000+ rare diseases in the National Organisation for Rare Disorders (NORDs) database include a neurological component. 72% of the diseases have a genetic component and 70% of the diseases become apparent during childhood.1

                Examples of some neurological rare diseases are:  

                • Amyotrophic Lateral Sclerosis (ALS)
                • Duchenne's Muscular Dystrophy
                • Huntington's Disease
                • Batten's Disease
                • Spinal Muscular Atrophy
                • Friedreich's Ataxia

                Rare disease day, which is held on February 28th each year, aims to achieve equitable access to diagnosis, treatment, healthcare, social care and social opportunity. At Abcam, we provide tools that enable scientists to make these breakthroughs faster. 

                Learn more about Rare Disease Day    



                Luke Haslett, Group Leader, Rare Diseases | Evox Therapeutics
                Dr. Luke Haslett is has been researching rare diseases since a research placement during his undergraduate degree at the University of Bath. Continuing this work to complete a Ph.D at Cardiff University in the links between lysosomal diseases and more common neurodegenerative disorders prior to postdoctoral research on the cell biology of Batten Disease. In 2018 he had the opportunity to make the jump from academia to a startup biotech and joined Evox Therapeutics. 

                Since joining Evox Therapeutics he has been working to develop engineered exosomes as a novel class of therapeutics for a range of inherited metabolic diseases. Working across an array of drug discovery activities to answer the questions needed to progress this technology in the clinic Luke is hopeful that his work will be translated into novel therapies for rare disease patients. 

                ​Jo Balfour, Managing Director | Cambridge Rare Disease Network (CRDN)
                Jo Balfour is a founding member of CRDN and Managing Director.  She directs and controls the charity's operations and gives strategic guidance and direction to the board. 

                Jo leads the creative and operational development of CRDN's unique and innovative events programme to raise awareness about rare disease and promote cross-sector collaboration. She is the founder of the charity's regional rare disease community group, Unique Feet, and oversees all other aspects of the charity's work. 

                From a background in Special Educational Needs Management and as an advisor for Looked After Children in schools, Jo's 25-year career in education has been one which offered support and challenge to schools to provide the best care for young people living in exceptional circumstances to enable them to achieve aspirational goals in all aspects of their lives. She has continued this ethos of support and challenge into her work in rare diseases, aspiring to a world where all those affected by rare diseases receive exceptional care, treatment and support.​

                ​Elizabeth Vroom, Chair | World Duchenne Organization
                ​
                Elizabeth Vroom is founder and president of the Duchenne Parent Project Netherlands since 1995 and Chair and co-founder of the World Duchenne Organization (UPPMD). She is the mother of an adult son with Duchenne MD and is an orthodontist by training. She serves on several advisory boards regarding Care, Research, Ethics, Development of new medicines and Regulatory Issues in the Netherlands as well as internationally. For example as Chair of the Ethics Board and member of the Executive Committee of TREAT-NMD, a global translational network for Muscle Disorders.


                As a volunteer for EURORDIS she is a member of the Faculty of the EURORDIS Open Academy, where she trains other patient advocates/experts during the annual EURORDIS Summer School. She is involved in several publications regarding Standards of Care and drug development for Duchenne Muscular Dystrophy, these include development of outcome measures, role of Biomarkers, trial design and better use of data. She is co-author of a handbook on psychosocial aspects of DMD. Elizabeth has participated in several EU funded projects, such as Asterix, Adapt Smart, RD-Connect and currently participates in Vision-DMD, Share4Rare and BIND.

                ​

                References


                1. Rare Disease Day







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