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European Biopharmaceutical Review

A Conversation About Systemic Sclerosis

EBR:With systemic sclerosis (SSc), commonly known as scleroderma, and estimated to range from 50 to 300 cases per 1 million people, many might not know the specifics of the disease. Can you give an overview of its symptoms, causes, and effects?

Dr Alexandre Akoulitchev: SSc is a rare autoimmune disease. What distinguishes it from others is that it has the highest case fatality of any rheumatic disease, largely from heart or renal failure, in the advanced stage. The survival rate is only 55% at 10 years post-diagnosis. The disease starts with the skin and connective tissues, marked by the overproduction of collagen, and later can affect blood vessels, muscles, hearing, digestive system, lungs (pulmonary fibrosis), and kidneys. Disease incidence is estimated at 18.7 cases per million per year. In the US, over 6,000 new cases are diagnosed every year. There are several classification criteria for SSc: from 2013ACR/EULAR scoring, to serological subtyping (limited and diffuse), to classification based on gene expression (limited, inflammatory, fibroproliferative).

Ultimately, today, the exact causes of SSc, linked to collagen overproduction, remain unknown. As a multifactorial disease with defined clinical outcomes, its patient subtypes and pathogenic pathways involved remain highly heterogeneous. This poses serious challenges to clinical prognosis and trial designs.

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Dr Alexandre Akoulitchev, MA, FRSM, is Chief Scientific Officer at Oxford BioDynamics, a leader in analysing 3D genomics using its liquid biopsy platform, EpiSwitch. Alexandre studied Mathematics, Physics, Chemistry, Biochemistry, and Biophysics at the Moscow Institute of Physics and Technology, Russia. In 1989, he was selected by the George Soros Foundation for the Oxford Scholarship. Alexandre obtained his PhD in cell biology from UCL, UK, and spent six years at the Robert Wood Johnson Medical School-University of Medicine and Dentistry of New Jersey, US, as a research assistant. Upon his return to England, he established his research laboratory at the Sir William Dunn School of Pathology, University of Oxford, UK. He was a University Academic Fellow (Research Council, UK) and a Senior Fellow of Exeter College, UK, sponsored by Cancer Research UK, the Wellcome Trust, and The Medical Research Council. Alexandre is a Fellow of the Royal Society of Medicine.

Dr Ewan Hunter, BSc, Chief Data Officer at Oxford BioDynamics obtained his first degree in Biochemistry from Edinburgh University, UK, after which he went to Guy’s and St Thomas’s Medical School, King’s College London, UK, to complete his PhD in Statistical Molecular Neurobiology. Since completing his degrees, Ewan has worked for several biotechnology vendor companies, including Silicon Genetics, Agilent, and Thomson Reuters in business and technical roles. Ewan joined Oxford BioDynamics in 2012, there he has driven the early biomarker direction, developed statistical and data pipelines, and now he is responsible for leveraging the value of EpiSwitch chromosome conformation data with customers and partners.
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Dr Alexandre Akoulitchev
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Dr Ewan Hunter
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