Honorable Mention Excerpts



Tharushi Perera

Staten Island Technical High School
Staten Island, NY
Teacher: John Davis

 

…CF is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) which codes for the CFTR protein that pumps chloride ions out of the cell into secretions, attracting water and diluting them (Osmosis, 2016). The most common mutation in the CFTR gene is ∆F508 where the 508th amino acid in the sequence, phenylalanine, is deleted and causes the protein to fold improperly, preventing it from pumping out chloride ions and creating thicker secretions (Osmosis, 2016). This can lead to problems in the lungs and pancreas such as bronchitis and pancreatitis (Osmosis, 2016). Because it is autosomal recessive, an individual needs to inherit one copy of the mutated CFTR gene from each parent to develop the disease (Osmosis, 2016)…

…The first vector used was a lentivirus which has previously been used for patients with rare immune diseases as the gene it delivers directly attaches to the cell’s genome, repairing the code permanently (University of Iowa, 2016). The second vector was an adeno-associated virus (AAV2) which is safe to use in humans and can easily be produced in large quantities (University of Iowa, 2016). Both gene therapies helped restore the chloride currents in the pig airway cells showing that the gene was properly delivered (University of Iowa, 2016). As a result, there was an increase in pH and ability to kill bacteria in the secretions, indicating improved lung function (University of Iowa, 2016)…

…Alton et al. (2015) attempted to use an inhaled gene-liposome complex, pGM169/GL67A, to deliver a functional copy of CFTR to the participants’ airways (Yeoh-Wang, 2015). 136 participants were delivered either 5ml of 0.9% saline (placebo) or nebulised pGM169/GL67A every 28 days for a year to observe the effects on lung function (Alton et al., 2015). The effectiveness of the treatment was assessed through the relative change in percent predicted forced expiratory volume (FEV1) which is the amount of air a person can exhale in a forced breath (Yeoh-Wang, 2015). By the end of the study, the pGM169/GL67A group had a 3.7% greater FEV1 than the placebo group which suggested that the treatment stabilized lung function in the pGM169/GLf67A group, which deteriorated in the placebo group (Alton et al., 2015)…

…While current research is an encouraging start to developing a treatment for CF through gene therapy, more research needs to be done to improve the delivery of the genes, as there are many obstacles to using viruses, as well as to better the safety of the procedures for humans…