The Genomic Basis of Multiple Sclerosis

  • Research type

    Research Study

  • Full title

    The Genomic Basis of Multiple Sclerosis

  • IRAS ID

    227823

  • Contact name

    Tony Bjourson

  • Contact email

    aj.bjourson@ulster.ac.uk

  • Sponsor organisation

    Genuity Science

  • Duration of Study in the UK

    10 years, 0 months, 0 days

  • Research summary

    Multiple sclerosis (MS) is a predominantly demyelinating disorder affecting the central nervous system. It is a complex, incurable and debilitating neurological disease, making it difficult to study and treat. MS can be classified into different stages; relapsing remitting MS (RRMS) which is considered more of an inflammatory form of the disease, secondary progressive MS (SPMS) and primary progressive MS (PPMS) where progressive neurodegeneration is the prominent feature.
    The symptom severity, progression rate and response to drugs treatments can vary greatly pointing to complex underlying mechanism that control or contribute to this disease. MS may follow different clinical courses (subtypes) but it cannot be predicted at the time of diagnosis which subtype of MS a person will develop. The currently approved drugs work to diminish relapses by reducing neuro-inflammation and therefore only have demonstrated efficacy in the inflammatory predominant forms of MS. They can also result in an increased risk of complications. Treatment for symptomatic management is also very limited. The role of genetics in MS has been widely accepted since the human leukocyte antigen (HLA) class II region was first identified as a “risk” region in 1972 (Jersild C et al, 1972). Genome wide association studies (GWAS) have over the past 15 years identified a further 230 independent risk loci for MS, however much of genetic risk still remains to be identified (International Multiple Sclerosis Genetics Consortium, 2018, Sawcer et al, 2014). Most of the genetic findings implicate a strong immunological role in the disease. There is an unmet need to better our understanding of this complex disease which may lead to novel disease therapies and management, reducing the disease burden on the patient.

  • REC name

    Yorkshire & The Humber - Leeds West Research Ethics Committee

  • REC reference

    17/YH/0258

  • Date of REC Opinion

    31 Jul 2017

  • REC opinion

    Favourable Opinion