Accurate Predictive Classification of Cystic Fibrosis Severity in Patients
Opportunity
Cystic Fibrosis (CF) is an incurable genetic disorder where cells produce excess sweat and thick mucus that can coagulate in the airway, lungs, pancreas, and other organs. When untreated, CF patients demonstrate reduced lung function, increased lung infections, reduced digestive function, and poor weight gain and growth. In the best of cases, patients require routine monitoring and treatment but can otherwise live fairly normal lives. In severe cases, CF may not respond properly to standard treatment. It is extremely important in creating a treatment plan to identify whether a CF patient is at risk for developing severe CF. The presence of certain enhancers, or nucleotides which can increase the transcription of certain genes, are responsible for the development and severity of CF. Enhancers, however, are a priority topic in biology, primarily because of the difficulty involved in identifying and studying them. One enhancer may apply to different target promoters to increase the transcription of one or more genes, but it may exist some distance away from the promoter(s) and in any orientation. Further, enhancers are scattered across 98% of the human genome, which presents a large research space.
Breakthrough in Diagnostic Screening Technology for Cystic Fibrosis
Researchers at the University of South Alabama have identified a method to screen for severity in the development of CF. Guanine (G)-rich sequences are often found in gene promoters and enhancers; in some instances, they can regulate gene expression by forming G-quadruplex (G4) structures. Researchers have identified single nucleotide polymorphisms (SNPs) occurring within a specific enhancer region which correlate to CF lung disease severity. If a patient demonstrates abnormal expressions of any known CF relevant genes within this specific enhancer region, and if they are also found to have any enhancer-specific mutations identified by target sequencing, then they can be classified as ‘high risk’ for developing severe CF. These patients can then become candidates for treatment with G4-binding drugs, with the goal of stabilizing or destabilizing the G4 structures to reduce CF severity. Additionally, identifying high-risk CF patients allows for new, better treatments in tandem with the current standard of care. Treatments can involve FDA-approved drugs which are no longer patent protected and exhibit G4-binding activity, or the use of novel compounds proven to bind to targeted genetic enhancer region.
Competitive Advantages
Intellectual Property Status
Patent Pending