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The Genomic Basis of
Multiple Sclerosis (MS)

We do not know exactly what causes MS, but scientists believe that genetic make-up combined with environmental and lifestyle factors may be at play. The Genuity Science MS research study aims to explore this relationship between genomics, MS, and environmental/lifestyle factors in order to identify patterns that will help deepen our understanding of the disease.

Genuity Science is working to bridge the knowledge gap

Although many genomic variants (changes) have been linked to MS, the gap in knowledge between these identified variants and their link to the disease remains significant. While some research has already begun exploring how MS risk-variants directly bring about functional changes to gene expression and underlying biological pathways, more research is needed, and Genuity Science is focusing its MS research efforts to help bridge this knowledge shortfall.

Aims of the Genuity Science MS Study

  • to understand why some people develop MS and others do not
  • to determine why some people develop a mild form of the disease while others develop a more severe form
  • to identify significant lifestyle or environmental triggers among those with the disease
  • to identifying genetic markers that will help with the diagnosis of MS predict disease severity, and through our partnerships, identify more effective treatments for people with MS

Genomics Medicine for Precision Health

A genetic biomarker is described as a known DNA sequence that causes disease or is associated with susceptibility to disease. Using genetic biomarkers to predict the severity of MS for a person as well as how that person is likely to respond to treatment would tremendously improve our ability to manage the disease for that patient. Precision health is about prescribing an individual patient with the right drug, at the the right dose, at the right time. This would allow for earlier intervention and the increased potential to slow progression.

MS and Classification

Multiple Sclerosis (MS) is a complex neurological disorder caused by demyelination (damage to or loss of the protective layer around nerve cells) in the central nervous system. Symptom severity, disease progression and response to treatment varies significantly from person to person. This suggests that there are numerous complex processes taking place that may contribute to the development of the disease.

MS can be classified into two main subtypes; relapsing remitting MS (RRMS) characterised by episodes of clinical relapse, and primary progressive MS (PPMS) where symptoms get progressively worse over time. RRMS is the most common type of MS (85-90%) and most patients will eventually develop secondary progressive MS (SPMS)6. Clinical symptoms of MS include issues with balance or coordination (including dizziness and vertigo), fatigue, sensory symptoms such as chronic pain or numbness, movement symptoms such as spasms, seizures or ataxia, optic neuritis, and bladder or bowel problems7.

Genuity Science's MS Research Study

The Genuity Science MS study is a population-based study, which means the data is grouped with thousands of other participants with MS so that researchers can identify patterns that may help answer some important questions about the disease. This exploration of genetic and environmental risk factors, as well as the biological processes associated with MS will contribute to a better overall understanding of MS, paving the way for the development of new treatments and earlier intervention therapies for MS patients.

Over 2000

people with MS have taken part in this study

Read our study updates
 2019   2020 

Participant Story

"When I read about the study being undertaken by Genuity Science it was a ‘no brainer for me’; I just had to take part."

Declan Groeger
MS Research Study Participant
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"I have thoroughly enjoyed working with Genuity and would happily collaborate with them on any other project in the future."

Prof Stephen Sawcer,
MS Collaborator
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Follow the Participant's Journey

Eligible volunteers at research study sites consent to participate in the research
A blood sample is collected from the research participants along with lifestyle and medical history

The sample is delivered to our genomics centre

DNA is extracted from the blood sample using a robotic system
The DNA sample then undergoes a rigorous quality control process
The DNA is genotyped on a chip to study a variety of important questions related to health, disease risk and drug response

The sample is whole genome sequenced, providing a letter-by-letter read of all 3.2 billion letters in an individual’s genome

Our scientists analyse the sequenced data of thousands of individuals in parallel to identify patterns and variations in the genome which may cause or contribute to certain medical conditions

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