Orkambi, Genome Editing, and a Few ‘Salty Girls’

Orkambi, Genome Editing, and a Few ‘Salty Girls’

The selection of articles I chose for this week is an attempt to capture recent events, along with one older article, showcasing the range of articles relating to the science and increased awareness being brought to the CF community

‘Salty Girls’ photo Series Challenges Notions of Beauty and Cystic Fibrosis

The Huffington Post – Cavan Sieczkowaski

The past several months have brought a wave of attention and media coverage to the project ‘Salty Girls’ by photographer and art director Ian Pettigrew. I recently wrote a review of Pettigrew’s newly published book, ‘Just Breathe: Cystic Fibrosis’ in which a series of stunning photographs tell the story of adults living with the disease. In similar fashion, ‘Salty Girls,’ a natural progression of his first portrait book, reveals photographs of women with the disease in a powerful portrayal of their beauty and resilient strength.

The Huffington Post’s article highlights a series of photos from the project as well as brief comments from Pettigrew regarding his design and intention for the project. “Part of the goal of this project was for the women to take back that power, to make it theirs and own it.”

Cystic Fibrosis Drug Wins Approval of F.D.A. Advisory Panel

The New York Times Andrew Pollack

May brought exciting news with the recommendation of an FDA advisory panel for approval of Vertex Pharmaceutical’s combination drug, Orkambi. The positive vote by the panel shows promise for the approval of the drug by the F.D.A., who is slated to make a decision by July 5.

The article discusses the basics of the drug and the disease while providing context to the panels decision. Of particular interest was the use of testimonies from patients and families who testified at the hearing.

“Some patients who took the drug in clinical trials said it had made a huge difference in their lives, reducing their coughing, allowing them to exercise better, helping them gain weight or reducing how often they ended up in the hospital.”

The article finishes raising the question in the minds of many relating to the expected high costs of the drug and the unknown willingness of insurers to cover the cost.

Chinese Scientists Edit Genes of Human Embryos, Raising Concerns

The New York Times – Gina Kolata

In a recent article, I covered the use of CRISPR-Cas as a system for editing genes and its potential to treat single gene mutation diseases like cystic fibrosis. Following my article, a highly controversial paper was published by a Chinese research group who used the CRISPR-Cas system in human embryos.

The article explains that the embryos carried extra-chromosomes, rendering them inviable, and were being used to replace a mutated gene responsible for beta thalassemia.

“They used defective human embryos — but did hope to end up with an embryo with a precisely altered gene in every cell but no other inadvertent DNA damage. None of the 85 embryos they injected fulfilled those criteria.”

The article brings to light that although this technique has the potential to cure disease it is still in its embryonic stages of development with many unknowns concerning its safety and efficacy. Scientists around the world are concerned about the further use of the technique in human embryos fearing that it could alter other, unintended genes, creating harm and disease that could be passed down through generations.

 

Hypothesis: Cystic Fibrosis Carrier Geography Reflects Interactions of Tuberculosis and Hypertension with Vitamin D Deficiency, Altitude and Temperature. Vitamin D Deficiency and CF Carrier Advantage.

Journal of Cystic Fibrosis – Mark Lubinsky

It is a long title but a very interesting article published in the Journal of Cystic Fibrosis in 2012. The article discusses the various geographical factors that may explain why there are certain populations and countries that contain a high incidence of cystic fibrosis.

It is believed that in certain instances CF carriers or those with only one mutated CFTR gene (CFTR is the gene responsible for CF) may have a selective advantage or increased chance of survival under specific circumstances.

It has previously been proposed that CF carriers have an increased resistance to tuberculosis (TB) due to a decreased activity of arylsulfatase B which is used in the cell wall of the bacteria responsible for TB.

The paper goes on to hypothesize that is expected that there will be a greater incidence of CF carriers in higher latitudes where vitamin D deficiency is prevalent. This would be explained by the ability of vitamin D to protect against TB, resulting in these populations having increased sickness and death from the disease.

However, CF carriers in these populations are less susceptible to contracting tuberculosis and would therefore have an increased chance of survival due to the mutated CF gene they carry. In short, the ability of CF carriers to survive in these areas would explain the increased rates of CF compared to populations that are less vulnerable to tuberculosis from vitamin d deficiency.

I find the paper’s hypothesis interesting in contributing to our understanding as to why we see the geographical distribution of CF with some geographical locations carrying a higher rate of the disease.

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