1. How Charitable Organisations Support Research Presentation By: Sue Farrington Monday 10th October 2016

2. Scleroderma & Raynaud’s UK
Vision
A world where no-one has their life limited by Scleroderma and Raynaud’s.
Mission
We exist to improve awareness and understanding of these conditions, to support those affected, and ultimately to find a cure.

3. What we do Provide expert information and support
Increase awareness and understanding
Campaign for early diagnosis and access to best treatment & care
Support and enable Research
Fundraise to improve lives

4. The Condition – Raynaud’s
Raynaud’s phenomenon is a common condition, affecting an estimated 10 million people in the UK. The onset of Raynaud’s usually begins between the age of 20 to 40. Raynaud’s can affect all extremities – fingers, toes, ears, nose, lips, tongue and nipples. Two types of Raynaud’s – primary and secondary.

6. The Condition – Scleroderma
Scleroderma is a rare, chronic autoimmune condition affecting blood vessels and connective tissue. The condition affects 12,000 people (approx.) in the UK with the condition being 4 x more common in females than males. The onset of scleroderma is most frequent between the ages of 25 to 55. There are two main umbrella types of the condition Localised and Systemic.

7. Diagnosis - The Link

8. How we currently support research
Fund research into the Raynaud’s and Scleroderma:
Biomedical
Care & Services
Supporting Researchers
Invested over £9.5 million over 25 years
We support recruitment of volunteers to clinical trials by:
Collaborating
Educating
Enabling

9. ILD Research
Interstitial Lung Disease is the leading cause of death in patients with Systemic Sclerosis There are no current therapies able to halt disease progression. Around 40% of our research funding goes into projects looking at fibrosis and in particular how progression affects the internal organs.

10. Pathogenesis and Clinical Manifestations of Pulmonary Fibrosis in Scleroderma
The long-term aim is to:
utilise their understanding of genetics to improve patient management and outcome
identify the genetic polymorphisms associated with risk of developing pulmonary fibrosis in SSc patients
determine how these genetic variations influence disease susceptibility, progression and outcome
assess whether these genetic differences are useful clinical biomarkers for SSc
investigate genetic targets as candidates for novel approaches to therapy

11. Vascular disease in Scleroderma: Key pathways in pulmonary arterial hypertension
Focused on studying the main cell type which resides in the vessel wall, the vascular smooth muscle cell (SMC).
Identified a specific protein called NKX2-5 which directly controls the production of collagen type I (the main component of scar tissue) in blood vessels.
On-going studies pointed to a more critical role of NKX2-5 in SSc-PAH. When inhibited the influence of NKX2-5, noted that the cells did not proliferate or produce scar tissue.

12. Developing a research strategy with: patient community,
Future Plans
Developing a research strategy with:
patient community,
clinical & research professionals
other selected stakeholders.
Explore collaboration opportunities

13. Thank You For Listening sue. farrington@sruk. co
Thank You For Listening @WeAreSRUK