How Cystic fibrosis is inherited

According to the Cystic Fibrosis Foundation, Cystic fibrosis is a progressive, genetic diseases that affects the lungs, pancreas and other organs. Around the world, in about 94 countries, there are about 105,000 individuals living with Cystic fibrosis. Cystic fibrosis is not racially-selective and as such, it can affect anyone in any racial or ethnic group. Cystic fibrosis is caused by a mutation in the Cystic fibrosis transmembrane conductance regulator (CTFR) gene. 

The disease affects the cells that produce secreted fluids in the body like mucus, sweat and digestive juices. Usually, these fluids are thin and slippery but the mutation of the CTFR gene causes them to be sticky and thick and they begin to block tubes, ducts, and passageways in the lungs and digestive system. The past years have seen an improvement in the quality of life of people living with Cystic fibrosis due to improved medical research.

Usually, every child inherits one CFTR gene from each parent making a gene pair. Consequently, when a child inherits a mutated CFTR gene from both parents, the child will have cystic fibrosis. On the other hand, if a mutated CFTR gene is inherited from just one of the parents then the offspring will be a genetic carrier of the CFTR gene. It is important to note that for this to happen then the other parent must have a normal CFTR gene.

Sources

https://www.cff.org/intro-cf/about-cystic-fibrosis

https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700#:~:text=Cystic%20fibrosis%20is%20a%20disorder,mucus%2C%20sweat%20and%20digestive%20juices.

https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes#:~:text=Every%20person%20inherits%20two%20CFTR,be%20a%20cystic%20fibrosis%20carrier.

Possible Treatment for Cystic Fibrosis Discovered



Cystic fibrosis is an inherited life-threatening disease that damages the respiratory and digestive systems in the body. This disease affects 30,000 people in the US alone and currently has no cure however, recent research shows that a certain therapeutic approach may stop the disease from progressing.  Secretory glands in the body are responsible for the production  of mucus and swear, in a person with CF however, these secretions build up in the lungs causing respiratory infections as well as cause other infections in other parts of the body affected.

A group of researchers from George Washington University as well as the University of Perugia and the University of Rome have identified a synthetic polypeptide called thymosin alpha 1 and have examined its therapeutic affects. Thymosin alpha 1 is a synthetic form of a polypeptide found in thymus tissue. A mutation in the genetic code of a protein called cystic fibrosis transmembrane conductance regulator (CFTR) causes CF. The mutation causes the protein to degrade prematurely which leads to poor chloride permeability in the affected areas and causes inflammation and infection. With the combination of several drugs, a therapeutic approach is able to be made that has shown multiple beneficial effects, more then ever found when dealing with the cure for CF. I believe this is a huge step in the right direction for curing this disease that so many people in the world are diagnosed with. Hopefully with further funding and more extensive research done, a complete cure can be made to totally eradicate this disease and save the lives of tens of thousands of people.

Links:
http://www.medicalnewstoday.com/articles/316837.php
https://gidigest.musc.edu/potential-new-treatment-for-cystic-fibrosis-uncovered-medical-news-today/

New DNA Technology for Screening Cystic Fibrosis in New Borns

Cystic Fibrosis is the most common fatal disease in the U.S. It causes mucus to build in the lungs, pancreas, and other organs,leading to frequent infections. CF is caused by a mutation on the CFTR gene which regulates the movement of water and salt out of the body's cells. The genetic disease affects about 3,900 babies each year. Every state screens for CF, California currently screens 40 of the most common mutations of the CFTR gene but there are more than 2,000 known mutations that can affect the gene. The current screening is a long process just for one newborn.

The screening involves several analyses, including a simple enzyme test, the current DNA test, and if positive in all aspects, there are additional tests to be sure of the disease. Though many times these tests can still result in a false reading. At Stanford University scientists say they've found a more accurate and comprehensive DNA test screening. They have claimed that the new test is more efficient and cost effective, and it may also improve screening for non-white babies in which it is more rare and harder to diagnose.

The new test uses "next generation" DNA sequencing that can quickly and more cheaply look at the entire CFTR gene instead of just looking for the specific mutations. The researchers say this advanced technology can help labs to look at many newborn samples at once rather than just a few. The lab is currently running a side by side comparison of the old test and the new one. The researchers are looking to meet with public state health officials within the year to discuss the next steps.

I think this is a great new technology that is much needed for all states. Because Cystic Fibrosis affects about 30,000 children and adults and about 10 million are carriers- meaning they can pass it on to their children-and it is so fatal, that there needs to be more of a accurate screening for when the children are born. So many cases are misdiagnosed or completely missed all together, this can help, especially with the minorities.

Gene Therapy for Cystic Fibrosis Shows Some Promise in Study

For the first time in years, gene therapy for cystic fibrosis has been seen to show slight, significant benefits for lung function. Cystic fibrosis is a rare, inherited respiratory disease that is caused by mutations in a gene called cystic fibrosis transmembrane conductance regulator, (CFTR). The condition affects over 90,000 people around the world. During a randomized trial, patients inhaled molecules of DNA that aimed to replace the defective gene responsible for cystic fibrosis with a healthy, working copy of the gene in the lungs. It had been seen that through the study, there was a slight benefit from the tests of lung function compared with the placebo group. Scientists that are working to develop treatments for CF have identified about 2,000 mutations to the CFTR gene that cause a lining of the lungs to ooze very thick mucus. This results in serious lung infections that damage the lungs and may cause deaths to some who are infected with the disease.

Another study that had been conducted was a two-year study involving 136 British cystic fibrosis patients ages 12 and older. Throughout a year, these patients were randomly assigned to receive either the gene therapy or a placebo at monthly intervals. After one year, the measure of lung function of the patients who received the gene therapy was 3.7 perfect greater than those who received the placebo. Scientists said the new results are encouraging, but the therapy should be tried. Doctor Decelie-Germana had stated, "It will also be important to study this gene therapy in other countries, since different patients are known to have different gene mutations". Although gene therapy for cystic fibrosis did show slight benefits on lung functions, it is not promised. I believe the gene therapy should not be used on everyone because some patients respond better than others and still needs more research before everyone is eligible to use it. In my opinion, the gene therapy needs more evolution in labs before it is available to the public and used on multiple people.

Link to article:http://health.usnews.com/health-news/articles/2015/07/02/gene-therapy-for-cystic-fibrosis-shows-some-promise-in-study

Link to alternative article:
http://learn.genetics.utah.edu/content/genetherapy/casestudy/

DNA Based Vaccines

President Obama has decided to request millions of dollars to research vaccinations based off DNA of patients.  Published in the New York Times, the article discussed the possibility of being able to target disease based off of a mutation.  The article references a gene that was found by Dr. Francis S. Collins, which causes Cystic Fibrosis.  The FDA has recently approved a drug which helps reverse the effects of Cystic Fibrosis.

The new drug, Ivacaftor, is the first of it's kind.  Instead of relieving symptoms, it targets the broken genes from CF.  Cystic Fibrosis can be caused by a few different mutations in the CFTR gene, which codes for a CFTR protein.  The protein can be wrongly made, not completely made, or not work properly.  Ivacaftor has the ability to correct the protein to make sure that it properly works.

I believe that taking a genetic approach to develop drug treatment is a great idea.  Many different strands of bacteria are becoming antibiotic resistant, which is a constant threat to public health.  Taking a genetic approach would eliminate the need to constantly attempt to discover newer drugs.  It also gives the potential for other genetic diseases to be treated.  I think that making the healthcare preventative or personal would allow for more success in eliminating certain illnesses, so creating a new form of treatment is a great way to attempt to solve the problem.