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

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.

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

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.

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.

Diagnosis - The Link

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

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.

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

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.

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

Thank You For Listening sue. farrington@sruk. co Thank You For Listening sue.farrington@sruk.co.uk @WeAreSRUK info@sruk.co.uk www.sruk.co.uk