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The genomic basis of
liver disease

The term Non-Alcoholic Fatty Liver Disease (NAFLD) is used to describe a spectrum of diseases which includes Non-Alcoholic Fatty Liver (NAFL) and Non-Alcoholic Steatohepatitis (NASH). NAFLD itself is common and may affect up to approximately 25% of the population, however NASH is a more aggressive form of the condition. It is not yet known what causes progression from NAFL to the more dangerous form NASH, but scientists believe that genetic make-up combined with environmental and lifestyle factors may be at play. The Genuity Science Liver Disease Research Study aims to explore this relationship between genomics, liver disease, 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 numerous genetic variants (changes) have been linked to liver disease, very few studies have established a solid understanding of the genotype-phenotype relationship. There is an unmet need to better understand how an individual’s lifestyle and environment interacts with their genetic make-up to bring about the physiological changes that are damaging in liver disease. Through its Liver Disease research study, Genuity Science is working to bridge this knowledge gap and reveal novel insights into the role of genomics in the development of liver disease, particularly the progression of NAFL to NASH.

Aims of the Genuity Science Liver Disease study

  • to understand why some people develop liver disease and others do not
  • to understand why some people develop a mild form of the disease, such as NAFL, and others progress to a more severe form, such as NASH
  • to understand the lifestyle and environmental triggers that can influence one’s risk of developing liver disease
  • to understand the unique phenotypic characteristics of individuals with different subtypes of liver disease and how their survival and / or treatment is affected by their genetics
  • to identify genetic markers that may help to provide early diagnosis, risk stratification and more effective treatment plans for individuals with liver disease

Genomic 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 liver disease 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 right dose, at the right time. This would allow for earlier intervention and the increased potential to slow progression.

Liver Disease and Classification

We explained above that there are different sub-types of liver disease. NAFLD is a metabolic disorder and can be classified into two main types; NAFL and NASH. NAFLD is the most common cause of chronic liver disease in the Western World. NAFL and NASH are caused by a build-up of fat in the liver, which is also called ‘steatosis’. NAFL is considered a milder form of the disease that may never progress to NASH, and can often be managed with lifestyle intervention. NASH, however, is a more pathogenic form that can cause severe damage to the liver in the form of scarring, known as fibrosis, and in some cases can result in hepatocellular carcinoma (HCC). Approximately 10-20% of those with NAFLD will develop NASH, and a small subset may progress more rapidly than others.

To clinically define NAFLD, there must be evidence of fat accumulation (steatosis) on the liver (confirmed by imaging or histology), in the absence of other causes of fat accumulation such as alcohol consumption. In cases where there is fat accumulation in the presence of excessive alcohol intake, this is known as Alcoholic Liver Disease (ALD). When doctors decide between a diagnosis of NAFL or NASH, their decision stems from assessing the health of the liver cells, called hepatocytes. NAFL is defined as greater than 5% steatosis of the liver without injury to the hepatocytes (hepatocyte injury is routinely established using serum biomarkers and less commonly biopsy). Establishing a diagnosis of NASH is much more challenging but is often based on the presence of inflamed or damaged hepatocytes which may or may not be accompanied by fibrosis (extremely damaged hepatocytes)3.

Genuity Science’s Liver Disease Research Study

The Genuity Science Liver Disease study is a population-based study, which means the data is grouped with thousands of other participants with liver disease 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 liver disease will contribute to a better overall understanding of liver disease, paving the way for the development of new treatments and earlier intervention therapies for liver disease patients.

Over 180

people with liver disease have already taken part in this study.

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