Tragic Outcome in DMD Gene Therapy

A 16-year-old patient with Duchenne muscular dystrophy (DMD) died from acute liver failure after being treated with Sarepta Therapeutics' gene therapy, Elevidys®. This therapy aims to deliver a functional version of the dystrophin gene, which is mutated in DMD patients, using a viral vector. This approach seeks to enable dystrophin protein production, which is crucial for muscle function, potentially slowing or halting the disease's progression. This incident marks a severe case of liver injury not previously reported with this therapy. Sarepta has stated that while the treatment has a positive benefit-risk balance, it will update its prescribing information. The liver failure could have been exacerbated by a recent cytomegalovirus infection the patient had, which can damage the liver. This event has prompted discussions about gene therapies' unpredictability and investment risks.

Gene therapies offer transformative potential in treating various genetic disorders by introducing, removing, or altering genetic material within a patient's cells. These therapies can potentially correct or replace malfunctioning genes responsible for disease, offering treatments for conditions that were previously considered untreatable. By directly addressing the genetic root of a disease, gene therapies can reduce symptoms, halt disease progression, and in some cases, potentially cure the condition. This represents a significant advancement in personalized medicine, tailoring treatments to individual genetic profiles. Although it is important to take each patient's death seriously, I believe that this should not stop the use of gene therapy because of how much more the medical field still needs to learn about our genome. Using specific genes, medicine can target mutations very specifically and lead to a world without problematic genetic disorders.

Links:

https://www.genengnews.com/topics/genome-editing/dmd-patient-dies-after-treatment-with-sarepta-gene-therapy/

https://www.mayoclinic.org/tests-procedures/gene-therapy/about/pac-20384619

US Gene-Editing Ruling Delights Plant Scientists

Analysts in the US have been given the approval to utilize quality altering systems to change products and plants. The choice opens the entryway for researchers to make another age of hereditarily adjusted harvests without genuine confinement and prepares for endorsements for comparable work in Britain and whatever is left of Europe.

The choice – by the US Department of Agriculture; has charmed researchers who had expected that confinements on the creation and developing of hereditary changed products would likewise be forced on crops made utilizing far less complex quality altering procedures.

Personally, I could not have said it better myself: "I think this decision by American legislators will have all sorts of benefits in the long run,” said Professor Denis Murphy of the University of South Wales. “This is a win-win situation because agriculture for gene-editing is cheaper, faster, simpler and more precise than the genetic modification of plants, in which a gene is taken from one organism and moved to another.”
To read more on this topic follow these links to read the complete article!
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Gene study compiles catalog of biomarkers for multiple cancers

Cancer Research published a study that identified over 120 biomarkers, or gene alterations, specific to many different forms of cancer. This study, which used two different data sets, was helpful in that it provided a beginning for identifying biomarkers in cancerous cells. The identification of these biomarkers could help early detection in the future. In specific, upregulated genes were studied, which are genes that are more often expressed in cancerous cells than in healthy cells, leading to the production of more protein and enzymes specific to those highly expressed genes.

TOP2A and MK167 were two examples of recognized biomarkers, while REP522 was found to be upregulated in many cancers, or has been increased. Both TCGA data, which was composed of different types of cells from tumor data, and FANTOM 5 CAGE data, which utilized cells grown in culture, were studied to observe changes present in both data sets. The most significant connection was finding biomarkers common to both sets of data.

It would be helpful to continue similar studies by taking additional data, perhaps from hospitals or cells grown in culture, and comparing it to the biomarkers discovered in this study. If many other studies reported the same findings, it is extremely likely that technology can be developed to detect such gene alterations and possibly develop drugs that could target those biomarkers.

On the way to Controlling Genomes

Genome editing is the control of adding, deleting, activating, or suppressing specific genes on DNA sequences.  Researchers have recently developed a new technique for genome editing.  The technique involves a system known as CRISPR-Cas (or clustered regularly interspaced short palindromic repeats-Cas).  CRISPR is a system used by bacteria to defend against viruses and other invaders; it targets and cuts DNA in a sequence-dependent manner to turn off or on genes that could harm the bacteria.

            Researchers are now utilizing this system to better understand and develop new ways to manipulate genes.  In addition to understanding and manipulating genes, the CRISPR-Cas system allows for increased accuracy and precision when targeting DNA.  This research has the potential to change the world.  Crops could be specifically altered to reduce or even grant immunity to diseases.  This could eventually be developed to work on people: genetically tailored drugs for your specific genome or changing you genome to grant immunity/resistance to disease.  One scientist, George M. Church, even predicted the possibility of de-extinction, human enhancement (develop human bodies suited for space and other hostile environments). Of course as exciting as gaining control over the human genome is, it raises the questions is it safe, effective, and morally right?  We are going to have to answer these question soon.

                

            I have always found control over the human genome to be fascinating.  The potential it has to improve the world is astronomical, which is why I thoroughly enjoyed reading this article.  It showed we are constantly advancing our techniques and approaches to handling the control of genes on DNA sequences.  When we finally gain the control over genes, we will be able to help the world and expand in all fields.  

Article: http://www.sciencedaily.com/releases/2014/10/141021141752.htm

Related Article:  http://www.thecrimson.com/article/2014/10/21/medical-professor-genome-editing/

Treating Sickle Cell Disease

New Scientist reported that switching off a certain gene could treat sickle cell disease.  The disease creates

[caption id="attachment_3761" align="alignleft" width="200" caption="Silenced gene. Turning off a gene called BCL11A in mice with sickle cell (right) disease helps them to produce red blood cells (left) with working hemoglobin molecules. Credit: Fotosearch"][/caption]

mutated blood cells which contain long sticky chains.  The mutated cells could clog small vessels, cutting off oxygen to organs.  The gene scientists are targeting is called BCL11A. The gene switches fetal haemoglobin to adult haemoglobin.  Studies have been conducted to turn off the BCL11A gene in mice.  By doing so this allows the mice to produce fetal blood cells with working hemoglobin molecules.  Harvard Medical School conducted an experiment to switch of the BCL11A gene in mice with sickle cell disease.  After doing so it was observed that the mice produced 20 times more fetal haemoglobins, the cells produced contained nearly zero sickle cells.  Organs in the mice were virtually completely healthy.  The article goes on to explain that the gene could be targeted in humans by redesigning the length of the patients RNA and injecting it into the blood stream.  The drug hydroxyurea could also be taken to produce fetal haemoglobin.  The problem with redesigning RNA is the expense.  On the other hand hydroxyurea has been known to reduce white blood cells.  Science Now reported identical results from the Harvard experiment.  Science Now explains that more complications would arise if the gene was targeted in humans rather than mice.  All in all more research has to be performed before targeting the BCL11A gene in human beings.  Perhaps within the next few years scientists will have a better method to targeting the gene and individuals with sickle cell disease will be cured.