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.
We know that MS is not passed directly from parents to their children, but the risk increases where a person has a parent with MS. The risk of MS in the general population is estimated at 0.1 - 0.3% and increases to ~3% with affected first-degree relatives1. It may be as high as one in five if they have an identical twin who has MS.2
It is likely that a person who develops MS has a genetic predisposition combined with certain environmental and lifestyle triggers. Genome-wide association studies (GWAS) have identified approximately 200 gene variants (changes) that are associated with the disease.3
Other research studies conducted to date have identified environmental and lifestyle factors including smoking, obesity, the Epstein-Barr virus (a common virus known to cause glandular fever), alcohol consumption, coffee, exposure to organic solvents, and vitamin D levels.
Genuity Science’s Whole Genome Sequencing, together with our deep phenotypic data analysis (clinical information regarding symptoms, and demographics, such as age, ethnicity and sex) will help further this research.
Individual response to current treatments for MS is wide and varied. Disease modifying therapies (DMTs) such as Betaferon, Copaxone and Gilenya, are currently used to treat MS and can reduce the rate of relapse and improve symptoms of the disease. DMTs are the first line of treatment for relapsing MS patients. These drugs work by targeting the immune system to control inflammation, but most DMTs have unwanted side effects such as nausea, diarrhoea, flu-like symptoms, headache, anxiety, depression, and thyroid problems4,5. Other MS therapies do not modify the disease course but treat the symptoms caused by the disease itself such as depression, fatigue, chronic pain, bladder or bowel dysfunction and cognitive impairment.
While the benefits of the current treatment options for MS have been proven in clinical trials, they are often only effective for certain subsets of patients. For patients diagnosed with primary progressive MS only one treatment is available (Ocrelizumab) and this treatment is not yet licenced to treat PPMS in Ireland. This highlights the need to identify optimal treatments for each individual patient.
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.
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