Cystic fibrosis (CF) is a genetically inherited disease shortening the life spans of over 70,000 people worldwide. Over the last decade there has been a significant improvement in diagnosis and treatment of CF, however the predicted age of survival still stands at only 36 years old. This disorder affects the respiratory, digestive and reproductive systems involving the production of thick mucus from the exocrine glands. CF commonly leads to severe complications including obstructive pulmonary diseases, digestive impairments and malabsorption syndrome.
There are several gene mutations which are capable of causing CF, the most common of these whose populations have been segmented in the Epiomic Database. These mutations impair the correct function of chloride transport in the body affecting the composition of the mucus layer in the epithelial surfaces in the lungs and pancreas. This leads to the bronchioles of the lung becoming clogged with thick mucus plugs, reducing mucocillary clearance and trapping a number of pathogens in the process leading to opportunistic infections and over inflation of the lungs.
To really gain a clear overview of this disease, the Epiomic Database breaks down patient populations for many areas concerning CF. From the diagnostic measures of lung function severity, major CF related opportunistic pathogens to the number of co-morbidities associated with the illness. The definition of these patient populations is crucial in understanding the complexity of this disease. The knowledge and scope of CF has expanded greatly over the last 10 years making it an opportune time to discover the potential unmet needs of this illness.