Monday, October 28, 2024

New Anatomical Discoveries in the Female Reproductive Tract of Fruit Flies

Drosophila melanogaster, commonly known as the fruit fly, has been used as a model organism for decades thanks to its unique anatomical traits that make it perfect for research in genetics. Having been thoroughly studied, its physiology and anatomy are well understood. However, a recent study further analyzing the female reproductive anatomy in fruit flies has found new developments in how localized cellular specialization influences gene expression and ultimately reproduction as a whole within the species. The study found that the uterine lining of fruit flies is made of eleven unique cell types that likely correspond to certain gametes and reproductive fluids. The study intends to provide a foundation for further molecular research of fruit fly reproductive anatomy.




https://www.sciencedaily.com/releases/2024/10/241025165753.htm
https://www.pnas.org/doi/10.1073/pnas.2409850121

Sunday, October 27, 2024

Heritability of BPD and its Influence on Creativity

 It has been known previously that creativity and mental illness have the tendency to link to one another, but the article specifically analyses the links between BPD (borderline personality disorder) and creativity. Because genetics factors are connected to mental illness, including personality disorders, heritability is considered in the study. 

Bipolar personality disorder is a mental health condition classified as intense, unstable behaviors that become most prevalent in early adulthood. The condition is centered around intense feelings of anger and impulsiveness, as well as having intense fears of abandonment. Various forms of therapy and medication may be used to treat the condition. 


The results of the study are described as follows: creativity and borderline personality disorder were each influenced by genetic factors (heritability = 0.45 for BPD and 0.67 for creativity) and that the traits are genetically correlated rG = 0.17. These results indicate strong genetic influences, and environmental influences’ contribute less to the creative demonstration associated with borderline personality disorder. 



Article:Overlapping genetic influences between creativity and borderline personality symptoms in a large Dutch sample | Scientific Reports (nature.com)


Other Article: Borderline personality disorder - Symptoms and causes - Mayo Clinic


Tuesday, October 22, 2024

Suppressing Malaria-Carrying Mosquitos Through 'Gene Drives'

 Mosquitos are the primary carriers of the plasmodium parasite-- the source of the malaria disease. West Africa is notable for being a hotspot of malaria cases. A recently developed technology known as a "gene drive" has been considered to be a potential method of suppressing transmission of malaria, utilizing the natural process of a species' own inheritance as predicted by Mendelian genetics to control populations by altering the expression of genes related to disease transmission. In the last decade, advances in CRISPR technology have progressed gene drive research greatly. Though field trials have not yet been done, simulations and models can help predict how they might affect real populations. In the figure below, the effect of gene drive releases on west Africa's mosquito population shows that they are predicted to decrease in density over time, reducing the spread of malaria in the process. Of course, in real application of this technology, there are many more factors that will determine its effectiveness. However, these simulations show promise in this newly emerging phenomenon that may help combat against malaria.



https://www.nature.com/articles/s41467-024-53065-z#Bib1
https://www.who.int/teams/global-malaria-programme/reports/world-malaria-report-2023

Wednesday, October 16, 2024

Harvard Researchers Develop Drug-Free Respiratory Infection Defending Nasal Spray

Harvard Medicine has developed a simple, drug free, and highly effective prophylactic measure against respiratory infections such as pneumonia, influenza, and COVID-19. Referred to as a 'Pathogen Capture and Neutralizing Spray', or PCANS, this spray coats the nasal cavity for up to eight hours and acts as a physical barrier that neutralizes a variety of viruses and bacteria with more than 99.99% effectiveness.

Though it sounds promising and novel, it does not serve as a substitution for vaccines-- only as an additional layer of protection. It is worth noting that the study of its effectiveness came from a clinical trial tested on mice. The effectiveness of the spray may vary in a real-world environment. It is currently on the market under the name 'Profi' and retails for around $20, but human clinical trials have not yet been publicly released and the product has not been FDA approved. Still, this cheap, safe, and convenient spray may serve as an additional layer of protection against common infections.




https://www.profispray.com/
https://news.harvard.edu/gazette/story/2024/09/drug-free-nasal-spray-blocks-neutralizes-viruses-bacteria/
https://onlinelibrary.wiley.com/doi/10.1002/adma.202406348?utm_campaign=publicity&utm_content=WRH_9_23_24&utm_medium=email&utm_source=publicity&utm_term=ADMA
https://genesdev.cshlp.org/content/early/2024/10/03/gad.351913.124


A Nuclear Power Plant Turned into A Dog Park

 Welp... No need for mice to test the genetic effects of radiation, dogs beat the scientists to it.

Chernobyl, Ukraine is where numerous families left their precious dogs to roam around and find a new home surrounding the abandoned Chernobyl Nuclear Power Plant. Shortly after the 1986 nuclear explosion, the location was renamed the Chernobyl Exclusion Zone, or a better-suited name The Chernobyl Exclusive Dog Zone. After 38 years of offsprings from different breeds, locations, and radiation intake scientists are now proceeding to collect scientific data from this dog park to set the stage for future research. 

The real science behind this exclusive dog park is how these once family-owned dogs managed to reproduce, hunt for food and water, and survive through environmental changes for nearly four decades. Personally, I am internally crying if it's below 70°F and I don't have three meals a day, but I'm just a helpless human. As scientists began research they are slowly uncovering the complex family dynamics of both the dogs that live inside the power plant and the dogs that live miles away from the power plant in nearby towns; they uncovered the basic knowledge that long-term radiation exposure can kill the dog. Utilizing these dogs as research collectors with detector radiation collars. 

Regardless of the domesticated dogs, farms, and ranches were also left unattended with livestock throughout the years, causing the deformation of their offspring. Livestock animals were inaccessible to vaccines and medication as farms were miles away from the power plant. Radiation exposure to livestock offspring consists of facial malformations, reduction of size, pigment mutation, and overall extinction. 

Unfortunately, this dog park is going to stay a dog park until a majority of all radiation is clear from water and air in another twenty thousand years. 

Resources: 

ThoughtCo. by Anne Marie Helmenstine, Ph.D (July 18, 2024)

https://www.thoughtco.com/chernobyl-animal-mutations-4155348

New York Times by Emily Anthes (March 03, 2023)

https://www.nytimes.com/2023/03/03/science/chernobyl-dogs-dna.html

ScienceAdvance by Gabriella J. Spatola (March 03, 2023)

https://www.science.org/doi/10.1126/sciadv.ade2537

Tuesday, October 15, 2024

Genetics and Eye Color

 


The saying “all babies are born with blue eyes” is a common misconception based on the fact a child’s eye color may appear light at birth, but change overtime. While this may be the case in some situations, eye color is only partially a genetic factor. 



Eye color is determined by melanin production on the outermost layer of the eye. The genetic component of eye color comes from other characteristics that also involve melanin, such as skin color. Darker skin colors tend to have darker-colored eyes, as well as lighter skin colors having lighter colored eyes. Some eye colors overtime evolved as a result of genetic mutation, such as albinism and heterochromia. 


The text describes the literal process of eye color evolution as the following: The cells that determine eye color come from the neural crest cells and migrate into the iris—our eye color cells take about six to nine months to get where they are traveling to.



Sources: 

Article: https://www.parents.com/are-all-babies-born-with-blue-eyes-7550257 

Additional Source: https://medlineplus.gov/genetics/understanding/traits/eyecolor/#:~:text=Both%20ocular%20albinism%20and%20oculocutaneous,eyes%20in%20the%20same%20individual. 

Sunday, October 13, 2024

Pros and Cons of Dieting: Mice

Scientific journal Nature recently published findings on the effect of diet on mice. Interestingly, it was concluded that genetics are more important than lifestyle in terms of lifespan. Ruth Schuster, a journalist for Haaretz news, summarizes the publication, remarking the interesting, but also quite amusing, discoveries from the researchers.

The research project gave the mice 5 different diets; one group was normal, two groups had to fast for one or two days, and another two had restricted diets. But while the diets were a deciding factor for the mice, overall it was found that genetics played a bigger part in extending the animal's life. As explained in the article, genetics explained three times more of the differences in lifespan than did the diets. Although there was no specific gene mutation that correlated to extended lifespan in the mouse, it was still concluded from the research that genetics still had an upperhand in influence over environment. Additoinally mice who did live longer due to their altered diet were often more prone to sickness.

What was rather funny about the whole research was that the given diets for mice were less of a deciding factor of the mices' lifespan, but moreso the mouse itself. As said in the article, "the strongest predictor for lifespan extension was mice that didn't freak when being handled" (Schuster). Meaning, personality and stress is a better predictor of whether or not you face an early death.

So the ultimate conclusion is, why not just eat what you want to eat? Of course, this is not research supporting overindulgence or a poor diet, but indeed research suggesting that torturing yourself with a diet won't help you in the long run. Even if you are to live 10, even 20 years longer than everybody else, would it be enjoyable constantly restricting yourself and fearing sickness? Surely the mice would think the same.

ARTICLES:

https://www.haaretz.com/science-and-health/2024-10-10/ty-article/genetics-trumps-diet-in-extending-life-study-finds/00000192-7652-dfca-adb7-77d37abb0000

https://www.nature.com/articles/s41586-024-08026-3

https://www.ncbi.nlm.nih.gov/books/NBK231918/#:~:text=Mice%20are%20omnivorous%3B%20they%20consume,as%20feedstuffs%20of%20animal%20origin.

Wednesday, October 9, 2024

Effects on stress reduction and cognitive function

 Effects on stress reduction and cognitive function


Effective stress avoidance can result in a big negative effect on ability to think and ability to concentrate. High levels of stress trigger the body to release hormones like cortisol, which are known to cause problems with memory, focus, and decision-making. Long-term stress can cause mental exhaustion, which interferes with focus and clarity of thought. On the other hand, these effects can be mitigated by using stress-reduction strategies like mindfulness, meditation, or regular exercise. For example, research on mindfulness practices has demonstrated benefits for concentrating capacity and abilities to solve issues, enabling people to take on duties with a simpler, more concentrated state of mind.

Additionally, lowering stress enhances general mental health in addition to improving cognitive function. Decreased stress can result in a happier and more at ease state of mind, which boosts productivity and inspiration. Being outdoors in nature or doing yoga are examples of relaxing actions that can trigger the release of endorphins, which further improves cognitive function. In the end, stress management must be prioritized in order to preserve mental acuity and emotional stability, which help people deal with life's obstacles more skillfully and live better lives.


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957652/


Tuesday, October 8, 2024

Creating Human Artificial Chromosomes

Researchers at the University of Pennsylvania's Perelman School of Medicine have recently made a breakthrough in the development of Human Artificial Chromosomes (HACs). These artificial chromosomes are laboratory engineered for gene therapy, genetic manipulation, and laboratory research. Prior to this breakthrough, the main struggle with developing HACs was the tendency for artificial DNA constructs to unpredictably clump together, making them practically useless.

By using a singular, long strand of parental DNA the team of researchers have been able to construct HACs while preventing multimerization (clumping). On top of this, the artificially created DNA is capable of coexisting with the natural chromosomes without negatively impacting them. This innovation in the creative process allows for researchers to create HACs quicker and at a higher quality, increasing the speed at which DNA research can take place. Quicker and more effective DNA research opens up new possibilities in finding gene therapies for various diseases that may have previously been too costly or time consuming.

While this development of using long single strands of DNA to create high quality HACs is revolutionary in the field of genetic medicine, it potential uses are still understated. For example, HACs could be engineered to carry entire gene networks that could control cellular functions such as targeting and destroying cells (like cancer cells). This form of genetic manipulation could also be used in the agricultural field to change the genetic framework of various crops to enhance traits such as pest resistance and drought tolerance. Overall genetic manipulation is still in its early stages and has plenty of potential to massively benefit the human race beyond medicine. 



https://www.pennmedicine.org/news/news-releases/2024/march/a-novel-technique-to-form-human-artificial-chromosomes

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9611860/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627072/

https://www.fda.gov/vaccines-blood-biologics/cellular-gene-therapy-products/what-gene-therapy

Genetics vs Cilantro Aversions

     The short article published by Nature.com discusses how genetics plays a part in some people's aversion to coriander, also known as cilantro. To most individuals, cilantro is a delicious herb put on food to give it an extra layer of flavor. However, some loathe it, claiming it tastes like soap, stink bugs, dirt, and the list continues. This hatred is traced to genes that encode both olfactory and taste receptors. Approximately 21% of East Asians, 17% of European Americans, and 14% of people of African descent dislike the taste of cilantro, whereas 3-7% of South Asians, Latin Americans, and Middle Easterners dislike cilantro flavor, showing ethnic, exposure and environmental effects play a role in this phenomena. However, Charles Wysocki, a behavioral neuroscientist at the Medical Chemical Senses Center in Philadelphia, claims that coriander, cilantro, preference is influenced by genetics, after conducting a study in the early 2000s. He found that 80% of monozygotic twins (identical) shared identical preferences for cilantro, but fraternal or dizygotic twins concurred roughly half the time for the herb. Indicating that there is strong evidence that supports the existence of a genetic and heritable influence on whether one likes or dislikes cilantro. 

    Through another study through 23andMe,  Nikolas Eriksson successfully identified two genetic variances, when compared to the common public, that linked the distasteful flavors and sensations that came from an individual when they consumed cilantro. One of the strongest correlate variants is located in the olfactory receptor genes, one being the OR6A2. A gene that encodes for a receptor that is hypersensitive to aldehyde chemicals-- in this case, coriander, or cilantro, an herb that contains high levels of aldehydes. Lilli Mauer, a nutrition scientist at the University of Toronto, discovered another olfactory receptor gene, as well as a receptor that identifies when something is bitter, that may possibly both be associated with this phenomenon that links preference of cilantro to roughly 500 individuals of European descent. However, though Wysocki and other researchers have found a high correlation between someone's preference for the taste of coriander or cilantro and many genes and genetic variantion. There is still a chance that these findings are actually linked with how individuals objectively measure their palate preferences for coriander instead of being a result of genetic influence. Roughly estimated that less than 10% of coriander and cilantro preference is due to genetic variants, showing a rather low correlation rate between the two. 

   I chose this article simply because I am someone who identifies as disliking the taste of cilantro. I have always said cilantro tastes like a stink bug to me, and whenever I say this, I get two responses, how, I don't taste it, or oh my goodness, you must be a supertaster! And although it may be annoying having to pick cilantro off my food at a Mexican restaurant, I just simply can not stomach the taste. So, when needing to find an article to write about, I wanted to write about this cilantro phenomenon that has plagued my and other's lives. I never knew some of the genetic variants in olfactory receptor genes and some bitter receptor genes that may play a role in a person's cilantro aversion, so it was definitely interesting to learn, even if it may or may not be highly correlated. Just as with other preferences and dietary choices, genetics may play a role in someone's hypersensitivity to some flavors, but I strongly believe that environmental, exposure, ethnic, and cultural backgrounds all affect someone's palate preferences. 



Solutions for managing freshwater resources

 Solutions for managing freshwater resources


As the world struggles with the growing problem of freshwater depletion, creative approaches to managing this essential resource are becoming more and more important. Promoting environmentally friendly water management techniques, such as collecting rainwater, enhancing irrigation effectiveness, and preserving natural ecosystems like wetlands, is one successful strategy. People living in cities can lessen their dependency on conventional water sources and lessen disasters from rainstorms by installing rainwater harvesting systems. Drip methods of drainage also enable landowners to use water more effectively, giving crops the precise amount they need without wasting it. These tactics improve durability toward the effects of climate change while also aiding in freshwater preservation.

The efficient control of freshwater resources is reliant upon participation from communities. Educating individuals about the significance of preserving water and including them in participating in neighborhood campaigns may result in major shifts in action. For instance, little things like plugging leaks, utilizing water-efficient goods, and helping to clean up nearby lakes and rivers can make a big difference. Moreover, encouraging cooperation among residents, Nongovernmental organizations (NGOs) and authorities can result in broad water management strategies that take into account the necessities of all parties involved. Collectively, we as a community can build a future in which equitable and sustainable use of freshwater resources ensures accessibility for future generations of people.


https://www.iwapublishing.com/news/sustainability-water-supply


Monday, October 7, 2024

Using an 'Epigenetic Clock' to Predict How Long One May Live

    The article, Could a Cheek Swab Predict When You Might Die, jumps right into a new test called a CheekAge and how this test can, someday, accurately predict how long someone has to live, as well as analyze mortality rates for an individual. CheekAge test tracks epigenetics via simply swabbing cells within the mouth.  Epigenetics tracks how a person's environment or lifestyle can alter how genes function throughout their lifespan. Typically, when researchers observe epigenetics, they follow a key tracker: DNA methylation. DNA methylation is a phenomenon where, without changing the essential composition of the gene, but the gene's ability to function/ gene activity is a result of molecular alteration or shifts in the DNA segments. The CheekAge takes advantage of DNA methylation by analyzing specific DNA methylation patterns from cells inside the mouth collected via a swab. CheekAge almost acts as an "epigenetic clock,"  subsequently examining and comparing results from the test to basic methylation patterns associated with life span "mile markers." 

    Dr. Maxim Shokhirev and his team of colleagues conducted a study that involved participants who underwent testing once every three years for DNA methylation via blood cell analysis-- roughly 450,000 different methylation sites on each of their genomes were taken and observed. These same participants underwent the CheekAge test, and the results were examined and compared. Dr. Shokhirev and colleagues concluded that CheekAge is accurately and significantly associated with mortality, this was concluded through extensive and longstanding datasets. Dr. Shokhirev and his team observed specific methylation sites that seemed pivotal in determining when one might die. One gene site possibly linked to suppressing cancer is PDZRN4 and ALPK2, a gene linked to heart health and cancer development. Other methylation sites have been connected to other health diseases and syndromes, such as inflammation, metabolic syndromes, and even osteoporosis. These genes can be analyzed to see if they significantly impact the lifespan of an individual. 

    Currently, blood-based epigenetic testing is the preferred method. However, the CheekAge could be a cheaper, faster, more convenient, and a valuable alternative to analysis of tracking the biology of aging, as it uses a simple, noninvasive cheek swab rather than a blood sample being drawn from a patient. 

I found this article interesting because the idea of using a cheek swab to date and potentially predict mortality is foreign yet so interesting, which is why it sparked my curiosity. Regardless, future studies still need to be conducted to identify and clarify other health-related relations that can be linked to CheekAge. However, I believe CheekAge can be used as a means of reducing some healthcare costs [a very prevalent and pervasive crisis in this day and age] since CheekAge is a simpler, cheaper, and faster method of epigenetic testing, making healthcare more widely accessible and available to people. Potentially, being able to use CheekAge to determine the frequency of age-related diseases, duration of health spans, and better predict risk rates for individuals diagnosed with life-threatening diseases could remarkably change the healthcare system for the better!



Gene Editing Restoring Sight in Blind Children

A clinical trial which used CRISPR-Cas9 gene editing, named BRILLIANCE, treated patients with Leber Congenital Amaurosis (LCA). LCA is a genetic blindness that is caused by CEP290 gene mutations. In this experiment, fourteen patients, which included two under 17 years old, received surgical injections of a gene editing agent. According to the study published in the New England Journal of Medicine almost half of the participants noted having a significant increase in their visual quality.


Visual improvement was tested in a variety of ways, such as testing how bright a light needed to shine to be detected. Another test was navigating a physical maze to test how easily patients could find their way around. Out of the fourteen patients, eleven of them displayed improvement in at least one of the many tests, and six improved in two or more. More importantly, six of the participants reported experiencing better vision related to seeing color, also called cone-mediated vision. Cones are the type of visual receptors responsible for processing color.


So far the injection of the gene editing agent has shown no significant side effects that would prove this treatment to be harmful. The study's success provides hope for those with genetic forms of blindness as more effective gene editing agent injections could lead to a potential restoration of vision. However, this method of gene editing injections could be used in many other genetic disorders, which makes understanding its methods so much more important for the development of genetic medicine. This study could be a foundational pillar for the medical treatment of genetic disorders as a whole, not just in the field of ophthalmology.



https://www.pennmedicine.org/news/news-releases/2024/may/gene-editing-improves-sight-in-children-treated-for-blindness

https://medlineplus.gov/genetics/understanding/genomicresearch/genomeediting/#:~:text=CRISPR%2DCas9%20was%20adapted%20from,segments%20known%20as%20CRISPR%20arrays.

https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/

https://medlineplus.gov/genetics/gene/cep290/

Sunday, October 6, 2024

Gene Therapy Infusions for Hemophilia B Patients

Recently, Penn Medicine published an article discussing how in the third phase clinical trial of an international study, adults with hemophilia B who received a single infusion of gene therapy saw a 71% decrease in the number of bleeding episodes. 



Hemophilia is a type of genetic disorder that slows the blood's clotting capabilities, which in turn causes spontaneous bleeding into critical areas such as joints. More specifically, hemophilia B is a type of hemophilia where clotting factor IX is not produced enough, so gene therapy is used to start the creation of clotting factor IX in the liver.


What the study showed was days after a patient's first infusion their body started to create clotting factor IX and after a year patients had a 71% reduction in spontaneous bleeding. On top of this over 45% of patients reported not having any bleeding after gene therapy. However, the most common adversive side effect of this was an immune system attack on liver cells, which can potentially be stopped with steroid treatment. The study is expected to continue for a minimum of five total years to observe all side effects, both long and short-term.




While this breakthrough could be critical for treating patients diagnosed with hemophilia B, it is important that the study continues to monitor all side effects before making this form of treatment widespread. This study as a whole is not only impressive for genetic medicine, but could be a breakthrough in treating a plethora of other diseases that have no known treatment as of now.



https://www.pennmedicine.org/news/news-releases/2024/september/gene-therapy-is-potentially-life-changing-for-hemophilia-b

https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/hemophilia

https://www.pennmedicine.org/research-at-penn/gene-therapy