Wednesday, November 8, 2017

Massive Skin Replacement Saves Child’s Life

This article starts off talking about a boy who had escaped the war in Syria that had completely destroyed the country. He escaped with his family to go find a doctor that could treat his very rare genetic skin disease that left him with raw, blistering sores over 80% of his body. The disease is called epidermolysis bullosa. They arrived at a children's burn unit and doctors had tried everything they could to treat his skin disease, even grafting some skin from his father to see if it would heal the boy's wounds. But his body rejected this. After trying everything they found a researcher out of Italy named  Michele De Luca, and ask him for help. 

Twelve years earlier Michele De Luca, director of the University of Modena and Reggio Emilia’s Center for Regenerative Medicine, had been successful in using gene therapy to replace the skin on someone's legs who had a similar condition. Unfortunately De Luca had to jump through some hoops for over a decade to be able to use his techniques on people. Finally De Luca's research and techniques were ready to be used and the little boy's doctors found De Luca at the right time. The next big hurtle for De Luca was he had never tried to replace the amount of skin the little boy had needed before. 

The doctors took a small piece of skin off of one of the only places on his body that wasn't flaming red or falling off and sent it to De Luca and his team. De Luca's team then used a virus to insert in the boys skins cells a correct copy of a gene called LAMB3. The boy had a defective copy of the gene which caused his disease. De Luca and his team grew the skin cells over scaffolds like doctors do with burn patients.  

The boy had 2 surgeries to replace all of the skin that had been affected by the defective gene LAMB3. One in October 2015 and one in November 2015. He was then was kept in University Hospitals of the Ruhr University Bochum in Germany until February to make sure the boy's body accepted the new skin cells. 

A year later the boy visited De Luca's lab to show off his new skin. The boy’s epidermis, (the top layer of skin),
completely regenerated itself after the new cells were added. De Luca said “It was a quite moving moment, after this 10 years of struggling to accomplish all these rules and paperwork and bureaucracy, the moment you see a patient like this, you understand it was worth it to do it.”  His skin no longer blisters or itches, and unlike many burn patients who must apply ointment once or twice a day for the rest of their lives, his repaired skin needs no ongoing treatment. It also heals normally from cuts and bruises and now produces normal levels of the protein laminin 332, which the child had lacked from birth due to his condition. The protein is crucial for, among other things, sticking the epidermis to the underlying dermis. The boy has no scarring, because his disease was literally only skin-deep. It did not affect the deeper dermis, where cuts trigger scars.

I chose this article because it is always fun to read about a medical advance. To know how fast medical research progresses is very comforting that people put their whole lives to research that only benefits others lives. The boy who in the article who had the gene LAMB3 corrected will now live a completely normal life. He will now be able to do what he loves, all because someone spent over a decade trying and trying to let push through laws and regulations to let his research help others.  

Gene Therapies and Regenerative Medicine to Treat Genetic Skin Conditions

In 2015 a seven year old boy escaped the horrors of war in Syria, but he still had his own battles to fight. At birth he had been diagnosed with epidermolysis bullosa, a genetic skin condition that had covered eighty percent of his body with raw open sores. Epidermolysis bullosa is caused by a defect on the boys LAMB3 gene which among other things produces a protein called laminin 332, a protein largely responsible for the adhesion of the epidermis to the dermis. Without this protein much of the epidermis on the boys body was constantly peeling away, leaving his dermis exposed, and causing him unbearable amounts of pain.
Luckily for the boy twelve years earlier Michele De Luca, a researcher at the University of Modena in Italy, had developed an experimental procedure to help a patient with a similar skin disorder. In short the boys doctors was able to send a healthy sample of the his skin to De Luca, who was then able to infect these skin cells with a virus that inserted a LAMB3 gene that functioned properly into the DNA of the cells. They then grew large sheets of the boys skin on scaffolds and were able to replace eighty percent of the boys skin with skin that contained a fully functioning LAMB3 gene and give him a chance at a normal life. One of the reasons they were successfully able to do this is because the epidermis is maintained by a small number of progenitor stem cells and since they replaced all of the ones in the boys skin with cells that had a functioning LAMB3 gene all future skin cells the boy produces will contain that gene as well.
I chose this article because the implications of this event are far reaching. Not only is it amazing but it is also an indicator of the potential of gene therapies and regenerative medicine. In my opinion if we as scientists are able to safely, reliably, and economically research and perform procedures that will help people overcome conditions on a genetic level, there is no end to the improvements that can be made on the human condition.

https://www.scientificamerican.com/article/massive-skin-replacement-saves-childs-life/

How Baby Bats Develop Their Dialects

          Studying non-human species, particularly mammals, in a laboratory setting can be helpful in decoding the incredible complexity of human speech. Many highly vocalizing species such as songbirds learn the intricacies of their dialect from their parents. Avian brains, however, are wired much differently than mammalian brains. In order to more closely approximate the dynamics of human language learning, studies have been done on the singing and clicking sounds of whales and dolphins. It would be helpful, though, to switch to smaller animals that are easier to work with in a controlled experiment. That is what researchers from Tel Aviv University in Israel had in mind when they started studying Egyptian fruit bats. Bats show similar patterns of vocal learning and are easier to manipulate in a laboratory setting.

          Similar to human accents or dialects, young bats learn distinct patterns of vocalizing from their local population that are distinguishable from the vocal patterns of bats raised in different colonies. To demonstrate this, researchers brought 15 pregnant females of the species Rousettus aegyptiacus into a lab and placed five each into one of three chambers. After all the bats had given birth, researchers started playing the recorded noises of three different bat colonies. One chamber received noises that were higher in pitch on average, another received lower pitched noises, and the last chamber received a mix of both. After a total of 30 weeks after birth, bats in the high-pitched chamber made calls that were noticeably higher in frequency than bats in the other two chambers. In the future, the researchers also plan to release the bats into new wild colonies to observe whether their dialect remains the same, changes to match the new colony, or influences the new colony's dialect.

          This study points out topics to compare and contrast with human development. For example, birds usually learn their speech patterns directly from their parents, whereas the bats did not do so directly. The unique factor in the bats' speech patterns were instead attributable to their general environment, similar to the different cultures that humans grow up in. On the other hand, human families are more isolated by living in different houses rather than a communal living area, which still allows for cultural influence but to a slightly lesser degree compared to bats. Knowing these similarities and differences between humans and other species can help scientists map out how language developed in the first place in different evolutionary lines, what parts of the human brain to look at when researching how the brain processes and produces speech, and what might be the optimal environment for children to develop high levels of communication. For example, some parts of the brain may develop in a much more isolated fashion, whereas other parts of the brain may be much more highly influenced by the social environment of the individual. This article implies that these more socially influenced brain pathways would be more directly correlated with the development of accents, dialects, and perhaps similar forms of communicating one's thoughts effectively.

          In addition to the interesting societal implications, I also chose this article because I believe the experiment it was based on was well-controlled. For example, the researchers chose bat mothers that were not closely related to ensure that the experimental results observed were not due to genetic differences. In the lab setting there were no random noises or other stimuli that one might encounter in the wild that could affect the final results. Instead each chamber was acoustically isolated from the outside world and from other noises in the lab such as the recordings fed into the other chambers. The results were also relatively unique. Although it may be intuitive given how important sound is in such dark environments, it had never been shown how clearly the speech of newborn bats is influenced by their noisy surroundings.

Monday, November 6, 2017

Human Genetics Linked to Evolution

Evolution is the survival of the most fit in a species so that the next generation might have a better chance of survival and potentially living longer then the previous generation. When an individual in the species is deemed “unfit” in the eyes of natural selection, they will die before they are able to reproduce and pass their genes on to offspring. All species evolve from generation to generation. From the time of Charles Darwin to today’s era, evolution has been studied countless times. Studies of many different insects, birds, and animals have supported the theory of evolution. But what about humans? Has technology diminished evolution impact on our species? Or does evolution affect us more than we realize?
While evolution may be a quite controversial topic in today’s world, a new study of a massive genetic sample supports evolution of the modern human race. This study of human evolution suggests that evolution does, in fact, have an affect on the human genome. “‘If a genetic variant influences survival, its frequency should change with the age of the surviving individuals,’ says Hakhamanesh Mostafavi.” Many genes (along with ages of the individual) were analyzed. Two genes were found to have an impact on survival because as the age increased, the less often the gene was found.
One gene is a variant of the APOE gene linked to Alzheimer’s and it was found in almost none of the females over the age of seventy. The other is a variant of the CHRNA3 gene linked to heavy smoking and in men, it was absent in most middle-aged and older men. These two genes decrease one’s chances of survival so natural selection runs its course and those individuals do not live as long. This supports the theory of evolution because of the gene’s correlation between the frequency of occurrence and the survival of the carrier.
Genetic sampling is a good way for us to predict life-expectancy and allows us to take precautionary measures to ensure the overall thriving of our species. We are able to see the specific genes that allow our population to be more evolutionarily fit. While technology and genetic altering hinder natural selection and evolution from occurring, natural selection is still relevant to our species and still has an effect on us.
One criticism of the study was that while these genes have a correlation with the age of the individual carrying them, it had seemingly no effect on the probability of them passing on their genes. However, humans naturally live long enough to see the generation after their offspring. This is why women live long after menopause has occurred. Grandparents are able to provide support and care for their children as well as their grandchildren which helps those younger generations to survive. This trait of our species is unique and does not occur as often in others.

This topic is very interesting and it was fascinating to read and learn more about it because evolution is a seemingly inapplicable topic for human genetics. These discoveries about humans and our evolution are very supportive of the theory of evolution. Evolution obviously plays a role in the genetics of our species. While it may not affect our life expectancy as much as it once did, we are able to see its relevance in the human genome.

Errors When Creating the Flu Vaccine

The flu vaccines are viruses that are killed or highly weakened. When injected into the body it alerts the body to attack the actual virus if exposed. Flu vaccines have saved an estimated 40,000 people between 2005-2014. Researchers have been searching for the answer for a better way to grow accurate strains of the ever changing flu virus. For over 70 years flu vaccines have been grown in fertilized chicken eggs producing the best yield. 

Studies have shown that the vaccine produced from chicken eggs have a higher mutation rate because it tries to adapt to the environment of the egg. Which causes the vaccine strain to be mismatched from the current virus. The director of the Center of Infectious Disease Research has concluded that when the new vaccine strain is grown in the egg the egg mutates the strain resulting in less effective vaccines. New studies have shown that vaccines grown in chicken eggs were only 43 percent effective against the prevalent virus. Two studies  have concluded that the egg is the reason for high rates of mutations because the virus has created a new sugar molecule to evade destruction. Therefore, when injected into humans it is not as effective.  Scott Hensley, a microbiologist, has determined that growing the vaccines in canine kidney cells and insect cells resulted in more accurate strains of the active virus. The problem for this route of growth is that it does not provide the quantity necessary to effectively treat the population. 

In conclusion, it would be beneficial for us to create the vaccines using the canine kidney cells and the insect cells even though it comes at a higher price tag. I think it is very important for the population to get the flu vaccine. It has saved over 40,000 lives by providing your body with the ability to fight the virus. I work in a hospital environment where if one person gets sick it is easily transferred. The flu vaccine provides a way to limit the number of people affected by this illness.

 I chose this article because it is flu season and so many people are affected worldwide by the flu. In this article I learned about the different ways we can grow new vaccines and how it provides more accuracy to the current strain. I think if more people read this article and knew that it is more effective now that they would be more encouraged to get the flu vaccination. 

Work Cited
https://www.scientificamerican.com/article/flu-vaccine-ldquo-factories-rdquo-create-errors-that-reduce-protection/

Could a Machine Identify Suicidal Thoughts?

A Netflix series titled, "13 Reasons Why" unravels the reasons why a teenage girl decided to commit suicide. The subject of suicide and suicide prevention in society has gone from too sensitive to discuss, to a worldwide effort to discuss suicide in order to prevent as many victims as possible. I personally have lost two close friends to suicide. So I, along with Dr. Marcel Just ( a cognitive neuroscientist at Carnegie Mellon University) and Dr. Matthew Nock ( a clinical psychologist at Harvard University), are committed to finding ways to recognize those who experience suicidal thoughts, and those who have attempted suicide before.

The background information previous to their study and experiment declared suicide as the second-leading cause of death in middle-aged Americans, and that those rates are only increasing. The study of the brain is the source of information of the body. This is where both Dr. Just and Dr. Nock conducted their research. They wanted to find a reliable biological predictor of suicidal thoughts and actions. Their study combined neural imaging with machine learning to discover if and how the brain responds to positive an negative words relating to life and death. Nock previously used implicit association test in order to predict those with suicidal thoughts or previous suicide attempts. This technique had the ability to correctly identify 9 out of 17 suicidal subject. Just conducted an experiment using machine learning. Impressively this test resulted in a 80 to 90 percent accuracy rate in detecting suicide risk. With this method of experiment we can see the actual thoughts people have about suicide


Both of these studies were combined in order to create an even more accurate method. Nock contributed by his accurate ability to detect suicidal thoughts through his implicit association tests. Just contributed with his technique of functional magnetic resonance imaging, or fMRI. This allowed for the use of both methods to create a scanner. Subjects were placed in the scanner and asked to think of words to describe suicide. The scanner recognized thoughts like: death, trouble, carefree, cruelty, praise, and good. Then was asked to determine whether or not the victim was suicidal or not. This method proved to be 91% accurate. In phase two of their study the fMRI exposed the brains response to certain words grouping the responses within 4 categories: anger, shame, sadness, and pride. The scanner was trained to distinguish between the brain activity that was suicidal and the brain activity that was not in correlation to the words expressed compared to the brain's activity.  The scanner accomplished the task with 91 percent accuracy, identifying 15 out of 17 suicidal subjects and 16 out of 17 controls (non suicidal subjects) correctly.

Other scientist have studied the results of Nock and Just and find their method to be, although accurate, being preliminary and expensive. Nock and Just agree to the fact that their study is not concluded. Their goal is to find a method that is both extremely accurate, and more easily accessible and available to the common folk. They are working towards finding new pieces to the puzzle of suicide through their research.
Work Cited
https://www.scientificamerican.com/article/could-a-machine-identify-suicidal-thoughts/

Saturday, November 4, 2017

Circumventing the imminent zombie apocalypse, the fountain of youth. Katerina Tafoya

Circumventing the imminent zombie apocalypse, the fountain of youth.

                Mainstream media, as well as highly revered authors and screen writes predicted it, now science has proved it; the existence of zombies. What has been a work of science fiction for decades, stories of the undead, is now filling the work-load of scientists near and far. Think of zombies, but much smaller, then think of microbiologist small; zombies so small that you can only see them through a microscope, and you nailed it. These little devils are responsible for 100% of all aging.  
Jan van Deursen and his colleagues at Mayo Clinic, located in Rochester, Minnesota; have been working around the clock after finding a peculiar phenomenon while studying mice subjects in their lab. This discovery was found quite by accident. As the scientists manipulated the cells, focusing on the cyclin-dependent kinase inhibitor, as well as a suppressor of tumors, that works by activating the Rb of the mice, they expected to see excessive tumor growth. Instead, they were bewildered by the results. This specific manipulation of the expression of p16, increased aging in the rodent’s tissues. They became senescent cells. In the past senescent cells were known to irreversibly obstruct the cell-cycle, protecting against cancer. Despite initial findings, and after intensive study we now know that cellular senescence amasses in aging organisms, causing aging, or in the case of the undead mice; increases aging. The mice developed clear indication that they were prematurely aging, after of only a few months of life, they accumulated cataracts in their eyes and thinning fur, becoming “undead.” Under further observation the biologists noticed that the mice’s bodies were obstructed with “zombie cells,” or more professionally known as senescent cells.
Now that van Deursen and his team pinpointed and accelerated the cause of aging, the next logical question was; could we reduce this, or halt the aging process entirely. And so, it began: the order for the eradication of “zombie cells” was set into action. Although the conventional way to slay zombies is to stock up on sawed-off shot guns, sharpened katanas, and gas-powered chain-saws, these methods that were effective in books and films, were not going to cut it with real world zombies. No, these are biologists, men and women of science, not some back-wood rednecks in a field. Their answer came to them through eloquence, finesse, and deliberate experimentation. The conclusion they came to was, yes, the cessation of age is potentially possible. They removed senescent cells from a subject and were enthralled to see that the removal stimulated the cells repair apparatuses, producing new tissue.
The drugs purposed that would be considered the “zombie-killing machine,” are called senolytic. This term was created to fulfill the reaction of the drug, deriving its roots from the words “senescence and “lytic.” Lytic is directly related to, or the cause of, lysis; which literally means “to destroy.” The idea is that the drug would hone in on the senescent cells and, like an accurate ballistic missile, completely destroy the age-causing cells.   
Unfortunately, like all good zombie stories, there is a gut-wrenching twist. You would think that funding for the “fountain of youth” would come flowing in by the millions, this isn’t the case. The fact is, that regardless of how monumental this research would be to the progression of humanity, the hindrances limit the amount of research that can be done on this subject. The main problem is that “the US Food and Drug Administration has not labelled it a condition in need of treatment,” therefore, getting funding for clinical trials is simply inconceivable.
In conclusion, the results are still out. In my opinion the largest reason for the neglection of this study is because it has hardly any monetary value. When science is funded, the funders expect a return for the initial money they put out, similar to a loan. There is also another problem, the idea that humans could potentially live forever might just lead to our utter extinction because of the limited resources available on this earth. The science itself could lead to cures for a multitude of diseases. Unfortunately, we won’t ever know unless further experiments could be funded and conducted. I chose this article because I find the idea of a zombie apocalypse absolutely fascinating, and the idea that we could remain youthful using science is really attractive, especially when you are faced with your own mortality. With that said, I am excited to see what the future of the microbiology field has in store for us, the bounds that we have made thus far are astronomical, and we have so much more to learn about the world in which we live.