By Jane Cook
December 14, 2021
Precision medicine can be described as one of the most exciting applications marrying bioinformatics and drug development. Being able to target disease with precision and accuracy has tremendous potential to improve patient’s quality of life and their response to therapy.
Successes in precision cancer treatments have come in the form of novel targeted therapies and biomarkers approved for companion diagnostics. For example, the drug Tacentriq, an antibody that blocks the PD-L1 receptor, spearheaded this revolution by being approved as the first drug precisely targeting tumors expressing PD-L1 and reactivating the body’s own ability to kill cancer cells using the immune system.
Precision therapies for other diseases, however, have been slower and more challenging to develop, especially gene therapies, but recent clinical trial data from Vertex Pharmaceuticals and UniQure show promising results for new drugs in this space.
Vertex Targets the Genetic Root of Kidney Disease
With the incredible volume of genetic and clinical data available thanks to Next Generation Sequencing (NGS) and bioinformatic analyses, everyday scientists gain more insights into the genetic basis of diseases. One such insight is that a severe and rapidly progressive form of kidney disease is caused by having two copies of a mutant APOL1 gene.
APOL1-mediated kidney disease causes proteinuria, or excess protein in the urine, which is a classic indicator of kidney damage as measured by the urine protein to creatinine ratio (UPCR). Vertex developed a small molecule called VX-147 that inhibits APOL1 and reduces the UPCR by nearly 50% 13 weeks after treatment, an unprecedented success for the drug in their Phase 2 proof-of-concept study.
Vertex is now working in overdrive to complete the development of VX-147 and bring it to the over 100,000 patients in the US and UK with APOL1-driven kidney disease. If approved, it would be the first genetically targeted treatment for kidney disease and will likely require a prognostic genetic test for the APOL1 biomarker in order to predict its efficacy.
UniQure Releases Promising Gene Therapy Results
Perhaps even more exciting is UniQure’s first-in-class gene therapy for hemophilia B, a severe blood-clotting disorder. Patients with hemophilia B lack Factor IX, an essential blood clotting factor, without which the blood cannot clot and even small cuts can turn into life-threatening bleeding events.
UniQure has built a gene therapy comprised of an AAV5 viral vector carrying the gene for a hyperactive variant of Factor IX called the Padua variant. In their preliminary Phase III study results, patients who started with less than 5% of normal Factor IX activity had on average 41.5% of normal Factor IX activity one year after the treatment infusion.
This treatment, and in fact all gene therapies, would not be possible without the power of sequencing technologies and the bioinformatic pipelines to analyze that sequencing data.
Bioinformatics for the Future of Drug Development
Bioinformaticians collaborating with bench biologists and doctors will continue to uncover the genetic mutations that cause cancer, poor immune responses, and all manner of diseases.
The pipelines built by these bioinformaticians and computational biologists are key to attaining drug discoveries. Results like these from Vertex and UniQure begin to realize the hope of turning that data and insight into actionable therapies to help patients all over the world.
Jane Cook, Journalist & Content Writer, Bridge Informatics
Jane is a Content Writer at Bridge Informatics, a professional services firm that helps biotech customers implement advanced techniques in the management and analysis of genomic data. Bridge Informatics focuses on data mining, machine learning, and various bioinformatic techniques to discover biomarkers and companion diagnostics. If you’re interested in reaching out, please email [email protected] or [email protected].