Date and time

Event date: Tuesday, 16 Nov 2021
Time: 12:00 - 12:30
Location:

Individual rare diseases are, by definition, rare! However, the fact that there are an estimated 6-8000 separate conditions classed as rare means that together, they constitute a significant patient population.

Rare diseases are typically complex, multisystem conditions, only 5% of which have any dedicated treatment options. Individual patients’ needs are shaped by their particular condition; however, we know that people living with a rare disease often face shared – and sometimes invisible – challenges in all aspects of life. Ranging from obtaining an accurate diagnosis to finding a specialist able to provide the best possible care and treatment.

There are also major challenges in juggling daily life activities, often affecting quality of life not just of the patients but of carers and relatives. All of this results in significant inequity for people with rare diseases.

In this NHIP Lightning Talk, David Jones and Victoria Hedley will highlight the importance of Newcastle’s unique approach to research and care for ‘rare disease’ as a discipline. They will share plans on forging new collaborations with local, regional, national and international actors, to bring about meaningful change for our rare disease patient populations.

Speakers

  • David Jones OBE, is Professor of Liver Immunology at Newcastle University and a Honorary Consultant Hepatologist with the Newcastle upon Tyne Hospitals NHS Foundation Trust. In 2018 he received an OBE for his services to liver medicine and clinical academic training.
    He is an international expert in autoimmune liver disease particularly Primary Biliary Cholangitis (PBC). Committed to delivering the best outcomes for patients with liver problems. Professor Jones leads the UK-PBC research consortium (MRC Stratified Medicine), which has the largest cohort of fully phenotyped primary biliary cholangitis/cirrhosis (PBC) patients.
  • Victoria Hedley is the rare disease policy manager at Newcastle University. She managed policy outputs for the European Joint Action in the field of rare diseases (RD), ‘RD-Action’’, liaising with the UK authorities (Department of Health, Public Health England and NHS England) with whom the Joint Action interacted.
    She is interested in data and eHealth issues and a founding member of the GO-FAIR Implementation Network for Rare Diseases.
    Victoria currently leads a European-funded initiative called Rare 2030, developing a new policy framework for rare diseases across Europe post 2030. She also leads the Newcastle team generating the online resource for the State of the Art of Rare Diseases Activities in Europe, collecting data and analysing the status quo of rare disease activities and policy frameworks within individual countries and across Europe. She is also co-lead for the data-oriented activities of the Conect4Children IMI2 venture, leading the activities around standardising terminology of paediatric clinical trials.

Newcastle University Centre for Rare Diseases
Both David and Victoria are co-leads for the Newcastle University Centre for Rare Diseases housing 80 experts with knowledge and understanding of particular conditions or disease areas and those with expertise in disciplines applicable to rare disease research. The Centre is essential to improve therapy options, outcomes, and quality of life for people with rare diseases.

Register to attend

Date and time

Event date: Tuesday, 16 Nov 2021
Time: 12:00 - 12:30
Location:
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