Why This?

Growing up I always knew that I wanted to help people. I volunteered from a young age, starting with events family members put on. As I got older, I began to venture out so throughout middle and high school I volunteered at the hospital and a local senior community. I cherished being able to work with all the patients and residents, every summer I would make sure all my responsibilities in order so I could spend most of my weekdays there. This was the beginning of becoming who I was and learning who I wanted to be.

            Today, I am 25 years old and sometimes I still wonder if the choices I am making for my future are the right ones. Yet I realize that this is the time to wonder, to feel out what I love and go for whatever it is I put my mind to. My love for people and helping them in a myriad of different ways has stuck with me from my childhood on. I started my freshman year of college wanting to be a nurse. It had been a passion of mine for quite some time, I shadowed nurses, found a mentor or two who walked me through the process, gave me honest opinions and gave me sage advice on my future and the steps to take. Just a few years later, with my testing and prerequisites in tow, I applied to nursing school and was accepted. Even though I managed to make my dream come true, I got into one of the hardest majors to get accepted into, I was not fulfilled. I was a student in nursing school, and I wasn’t focused. I did not feel as though I was being who I was meant to be. I sat in my classes, zoning out, and when classes were over, I’d talk to my friends about another idea that had been swimming in my mind for quite some time. I had been thinking about working with animals.

            While I had a break before I started nursing school, I began to volunteer at a local farm. This farm was mostly for entertainment, they had horses, goats, chickens, donkeys, alpacas, pigs. If you could think of it living on a farm, they had it living on their property. I would go there twice a week and aid in the care of all the animals. While there, the owner and some of the employees would teach me in-depth information about the animals and how to work with them. I then wanted to get to know more about smaller animals like cats and dogs, growing up I never had pets because my mother was allergic to the hair and dander they created. That’s when I began volunteering at the Suffolk Humane Society. The longer I spent my time at both places, the less I loved human medicine. I was working at a hospital, learning more and more, yet I just could not stand doing it anymore. I didn’t like the bureaucracy of it all, how nurses who had been working in the field for a while hated the up-and-coming nurses and students. I began to come home from work and be miserable, I had no passion for the field anymore.

            It was then that I chose my path, I wanted to work in the veterinary field. Through research on occupations and their level of involvement, I realized I wanted to be as close to the animals and in touch with them as much as possible. I wanted to be a veterinarian. I have gotten a job in my field as an assistant and attempting to learn new information and techniques daily. I hope to get into graduate school and become the large animal and large exotic vet I believe I was meant to be. Every experience before now has led me to this moment, all my hard work and experience give me a knowledge and skillset that I can take with my anywhere, but I am only headed in one direction.

Types of Articles

            Primary articles are those which present original research and results performed by the writer(s). Most primary articles are scientific in nature and include section headings, such as: Method, Results and Discussion. These articles are typically published by a credible source and examined by experts prior to being published.

            Review articles are like those many find in mainstream books and magazines. These articles typically summarize a primary article and are known to be much easier to read than a primary article. Review articles typically reference a primary article and have a link or information to access the full primary article to which it is referencing.

            Peer review is found in nearly every academic field, yet science is the one it’s found to be most prevalent. The review process begins when a group of qualified individuals completes a study and writes it into an article. It is then typically either sent to a publication who has their own team of experts in the field the article is written in to review it or sent directly to known experts in the field by the writing team. After the team receives their feedback, they can revise their article and resubmit based on the constructive criticism given.

            From the two articles given to the class to read and analyze, I believe that the article ‘Permanent inactivation of Huntington’s disease mutation by personalized allele-specific CRISPR/Cas-9’ is the primary article due to the section headings and the way the article is written, providing a lot of data and charts for the reader. The review article is titled ‘Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies’ in which in their abstract it states they review known functions of proteins involved in the disease process. This article also contains an extensive list of references which one may not find a list so extensive when reading a primary article.  

Primary Citation

Alfano, Lindsay et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. The New England Journal of Medicine 377, 1713-1722 (2017).

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy (WA #4)

In the article Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy (Aflano et al, 2017) scientists test a gene replacement therapy for spinal muscular atrophy, a neurogenic disease that is quite fatal in infants. Spinal Muscular Atrophy 1 (SMA1) is a progressive, neurogenic disease found in infants caused by a single mutated gene, SMN. Children who are affected fail to reach motor milestones or need mechanical ventilation by age 2.

In this study, the scientists inject a one-time dose of adeno-associated virus serotype 9, which delivers SMN to the 15 participants. Three participants received a low dose of serum and were enrolled in the program from May 2014 to September 2014, while 12 infants received the high dose from December 2014 to December 2015. The therapy was given in saline intravenously over a 60-minute interval. Participants were evaluated on a special scale of motor functioning with higher scores indicating better function.

The biggest outcomes being looked for was the safety of the drug, as well as the effectiveness of prolonging life and the quality of said life (need for permanent ventilatory assistance). In this study permanent ventilation was defined as at least 16 hours a day for respiratory assistance on a continual basis of at least 2 weeks.

At the end of the study, it was found that all patients had an increased score from their baseline in terms of motor function and by 2017 none of them required permanent ventilatory assistance. Patients in the high dose group had a higher average increase on the motor function scale than those in the low dose group. Many of the patients that participated in this study reached motor milestones that historically many infants that have SMA1 did not achieve.

In all the scientists found that a single dose of the serum resulted on longer survival that usual in infants with SMA1. The patients tested surpassed the standard at 20 months old for other children with their condition.

Alfano, Lindsay et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. The New England Journal of Medicine 377, 1713-1722 (2017).

Lac Operon

Genetics of COVID-19

            COVID-19 is an infectious disease that has been rocking the world for years. Due to its unpredictable nature, coronavirus still has us asking more questions than the answers scientists can provide. We are finding that those who seem to have little to no risk factors are becoming extremely ill, while many who seem most susceptible or live in close contact go unscathed. The unusual pattern of transmission has raised questions for many.

            In a New York Times article, it is spoken about how geneticists are getting involved in the fight to understand how coronavirus is transmitted and why some people do not become infected though they are in close contact with people who are infected. Many scientists believe the answer lies within the genes. Dr. Zatz, a geneticist at the University of São Paulo, and her team believe that there is not simply one gene or mutation that affects one’s response to coronavirus, but a combination of genes (Lamas, 2022).

            Through their research, Dr. Zatz and her team found that people who showed no sign of infection were more likely to have natural killer cells, a key part of the immune response, that presented with an intense response which leads to a stronger response against infection. This led Dr. Zatz’s team to research and investigate further causes, according to Dr. Zatz, “If we really can find out what the resistant genes are and what they do, I think we can find new treatments…But that will take some time.”

             In Goodnow’s journal article, he speaks of how genetic mechanisms can abate the transmission of a new virus. Though it seems that in Goodnow’s article, genetic resistance that inhibiting transmission is unstable over time related to variants, as seen with COVID variants such as omicron that has shown to be more forceful in attack. Variants have shown to evade resistance and have better transmission strategies, this is part of the reason seasonal vaccines have become much more prevalent in recent years.

            Through these articles, it’s been shown that the interest and research into the genetic component of COVID-19 could be extremely beneficial. The findings of these studies could lead to a better understanding of the disease process and aid in development of new and improved therapies in the treatment of the disease.

References

Goodnow, C.C., COVID-19, varying genetic resistance to viral disease and immune tolerance checkpoints. Immunology and Cell Biology 99, 177-191 (2020).

Lamas, D. J. (2022, March 8). Why do some people never get covid? The New York Times. Retrieved April 14, 2022, from https://www.nytimes.com/2022/03/08/opinion/people-never-get-covid.html

Romanov Assignment

History

  1. For over 300 years the Romanov family ruled Russia.
  2. When Nicholas II abdicated, his brother, Grand Duke Michal, took the throne.
  3. After abdicating, Nicholas II and his family were exiled to Yekaterinburg, Russia.
  4. The White Russian Army was an anti-revolution group that directly countered the Bolshevik Red Army.

Hemophilia

  • Nicholas II wife, Alix, was the granddaughter of Queen Victoria of England.
  •  The X-chromosome when mutated is what causes hemophilia, this leads to the disease only affecting men as they only have one X-chromosome while women have two.
  • A carrier, in terms of hemophilia (an X-linked recessive trait), is a female with one affected X chromosome, they may or may not have symptoms. They can pass this affected X chromosome to their children.
  • Men are not considered carriers for hemophilia as their genes contain only one X chromosome. Therefore, if a man has an affected chromosome in his DNA, he is afflicted, yet he cannot pass it on to his children.
  • Hemophilia is caused by missing or defective clotting factors VIII or IX. The severity of hemophilia is determined by the levels of clotting factor the affected person has.
  •  Hemophilia B is most likely represented in the pedigree chart.
  •  The mutation that causes hemophilia in many royal families is a substitution of the acceptor site of exon 4 in the F9 gene.
  •  Mutations can lead to a change in coding for an amino acid, which will result in a change in the protein being coded for.
  •   Of the females, none are affected but half are carriers. Of males, half are normal and half are affected.
 XY
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xXxxY
  1.  
  2.   Females can only be carriers of hemophilia, they cannot be affected due to having two X chromosomes of which both would have to carry the recessive trait in order for a female to be affected.
  3.  Alexis was heir to the throne, Nicholas II was worried and therefore put his trust in Rasputin, who aided not only in the healthcare side, but also consulted on political decisions. The people of Russia caught wind of this unrelenting trust the czar put into Rasputin, which could have led to the Russian Revolution.

Molecular Analysis of People in a Mass Grave

  1.   The first grave was found in the 1970s and contained five of the family members and four of their servants. The second grave was found in 2007 and it is estimated that at least 2 people’s bone fragments were recovered.
  2.   For the first grave nuclear DNA testing of five STR (short tandem repeat) markers, which compares allele repeats at specific loci in multiple samples, confirmed the sex of the skeletons and determined the familial relationship among the remains. These remains were found to be the Tsar, Tsarina, and three of their daughters.
  3.  Prince Philip’s mtDNA was used because they all share the same maternal ancestor.
  4.   Alexei and one of his sisters were missing from the initial and largest mass grave.
  5.  Yes, it is important piece to discover the identity of the unknown as hemophilia is more common in men.
  6. They found a single point heteroplasmy that is different from the Duke of Fife and Princess Xenia. 
  7.   The term is heteroplasmy.
  8. The three types of DNA used to solve the mystery of the remains are mitochondrial DNA, autosomal DNA used for STR testing and STR DNA on Y-chromosome.
  9. The Y-STR testing would have been key in identifying Alexis.
  10.  No, she was buried in the grave that was first found in the 1970s, with the other sisters.

Who Wants to Be Anastasia?

  •  Anna Anderson seemed to suddenly come out of nowhere and claimed she was the only surviving member of the Russian royal family, Anastasia. Unfortunately for her in 1990 her claim was proven false via DNA testing.
  •   In her final years of life, she settled in Charlottesville, Virginia.
  •   DNA was extracted from her intestine during a surgery she had, as well as some hair samples. STR analysis was carried out, along with mitochondrial DNA analysis. STR samples were compared to the DNA profiles analyzed from the bones of the Tsar and Tsarina.
  •  Bones were the source of Nicholas and Alix’s nuclear DNA. 
  •  Both mtDNA and STR analysis was done on Anna, Nicholas and Alix’s DNA.
  •  Anna’s mtDNA was compared to that of Carl Maucher and the Duke of Edinburgh, who was the nephew of the Tsarina.
  •  A hypervariable region is o ne that has a large ratio of multiple amino acids in a position, relative to that of the most common amino acid in the same position.
  •  The conclusion was that Anna Anderson was not Anastasia and also could not be related to her, she was an imposter.
  •  All of Nicholas and Alix’s children were accounted for by 2007, though it is unclear which remains belong to Anastasia and Maria.
  •  This assignment taught me a lot about Russian history and the many types of genetic testing that can be done to identify and cross-match relatives.

References

Davis, A. (n.d.). Romanov Group Assignment. Adavisacademics. Retrieved April 25, 2022, from https://sites.wp.odu.edu/adavisacademics/academics/major-courses/genetics/romanov-group-assignment/

National Hemophilia Foundation. (n.d.). Hemophilia B. National Hemophilia Foundation. Retrieved April 23, 2022, from https://www.hemophilia.org/bleeding-disorders-a-z/types/hemophilia-b National Hemophilia Foundation. (n.d.). Hemophilia in the Romanov Family. National Hemophilia Foundation. Retrieved April 23, 2022, from https://www.hemophilia.org/news/hemophilia-in-the-romanov-family