Writing Assignment #1
Personal Statement.
Sometimes in life, things don’t go the way you want them to. You could have had a plan set for the longest time. When you’ve known what you want to do for a career, you’ve known where you want to live, where you want to go; yet most of the time life has other plans. I was born in Guatemala Coban, and I was adopted when I was six months old. I was raised by my mom and dad in Roanoke Virginia and I have lived there almost my whole life. With one sister and one brother, we are 8 and 18 months apart. My family is very close and have always been extremely supportive of me and my goals no matter what they were. Ever since I was little I knew I wanted to go into the health care field. I’m a very curious person and have always wanted to know how things worked and what was happening. When I first starting looking into detail about jobs in the health field it was due to my own health issues. Starting in middle school I was experiencing an extreme pain in my upper right abdomen. I went through many different test, meeting many different doctors, nurses, and staff. It was one and a half years later, before doctors found out I had no function in my gallbladder. After almost two years in and out of hospitals, I truly knew what I wanted to be. Becoming a Physicians Assistant, is one of my many main goals in life. Throughout my teens, I always felt a little left out of my family because of our different races, styles, or just our life perspectives. The Covid-19 pandemic exacerbated these feelings. While being a very curious person, I really wanted to know and learn more about where I was from. The pandemic caused everything to shut down in my life that made me feel not so different. I was isolated from school, work, extracurriculars, and friends. Just those couple of months changed my life drastically. My experiences in my junior year of high school weren’t pleasant. I’ve always been an academically driven and community-oriented student. In my junior year, I went through a major depressive episode because of covid. I’ve always been an introvert but I never realized how much I depended on others. I was stuck inside and I was alone, or at least that’s how I felt. I began to feel depressed and hated life. I did not want to see anyone or do anything and at this point, all I was doing was sleeping and working. I had always stuck to my plan of getting my Associates degree when I graduated high school, but Junior year started and I soon didn’t do anything. My grades dropped and I began to hurt myself in many ways. My family and friends began to notice, and my mother made the executive decision to take me to see a doctor. This is when I was recommended to go to the hospital. I was sent to a mental health rehabilitation center, where I spent three days in the hospital and one week in the rehabilitation center. In the center, I participated in many different forms of therapy. We played instruments, painted, exercised, and meditated. The doctors and nurses shared their stories with me about how many people go through the same thing, sometimes even them. The way I began to cope with these feelings was through music. I loved the expression music could give and how much it can show your emotions. This has been a real challenge in my life and having to overcome this. I overcame this by talking to family, friends, and counselors. My friends and family made a huge difference in the healing process once knowing what I was going through. Being able to talk about this to others helped, and finding out that I’m not the only one vanished the alone feeling. After this experience, I know I want to be a PA specialized in mental health; and I also know I have the support system to do so. Today, I am managing my mental and physical health and I am working hard to stay positive. I hope one day I can support and learn from others; while I am not ashamed of what I went through, I know one day I can help many more.
Writing Assignment #2
Not Done
Writing Assignment #3
Zhou, MD. Y. et al. Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene. American Journal of Ophthalmology Case Reports 23(2021). https://www.sciencedirect.com/science/article/pii/S2451993621001602?via%3Dihub
Writing Assignment #4
Norrie disease is a rare genetic disorder that affects the eyes, brain, and hearing. It is caused by mutations in the NDP gene, which is in charge of making a protein called Norrin that is important for the development and maintenance of the retina, the light-sensitive tissue at the back of the eye. Norrie disease is a progressive disorder that can lead to total blindness. It can also cause hearing loss and developmental delay in some individuals. There is currently no cure for Norrie disease, but getting treatment early can help to keep original vision and improve outcomes. This case report published in the American Journal of Ophthalmology Case Reports described a 7-year-old African American male who was diagnosed with Norrie disease due to a deletion of the entire coding region of the NDP gene. The patient was referred to the ophthalmology clinic for, bilateral leukocoria, roving eye movements and did not blink or wince to light in either eye. The patient had no major medical history and seemed healthy. On examination, the patient had leukocoria (white reflex), which is a common sign of retinoblastoma, a malignant tumor of the retina that occurs in young children. However, further examination revealed that the patient did not have retinoblastoma but instead had a dense cataract and a retinal detachment in the left eye. The right eye was also found to have a cataract. The patient underwent surgery to remove the cataracts in both eyes and to repair the retinal detachment in the right eye. The genetic testing revealed that the patient had a deletion of the entire coding region of the NDP gene, which confirmed the diagnosis of Norrie disease. Norrie disease is inherited by X linked recessive genes. Females are the carries of the X linked gene, and get passed down to male children. Norrie Disease is X linked, it mostly affects males. A male who has the mutated gene on his X chromosome will have Norrie Disease because men do not have a second X chromosome with a normal copy of the NDP gene to compensate for the mutation. Females who have one mutated X chromosome and one normal X chromosome are carriers of the disease and usually do not have symptoms. Norrie disease is a progressive disorder that can lead to total blindness. It can also cause hearing loss and mental retardation in some affected individuals. In this case the patient did not show an signs of hearing loss. Norrie disease can also cause mental retardation. The patient did not show any signs of this either and had no neurological deficits. He can develop hearing loss later in life, yet at examination he has no signs. There is currently no cure for Norrie disease, but early intervention and treatment can help to preserve vision and improve outcomes. The patient’s family was taught about the genetics of Norrie disease and the risk of passing the condition on to future generations. This patient has very significant family history. A paternal great uncle with unilateral blindness and a paternal grandfather with high myopia. Early diagnosis and intervention can help to prevent vision loss and improve outcomes for affected individuals. In conclusion, Norrie disease is a rare genetic disorder that can cause vision loss, hearing loss, and developmental delay. Early diagnosis and intervention can help to improve outcomes for affected individuals. The case report described a 7-year-old African American male who was diagnosed with Norrie disease due to a deletion of the entire coding region of the NDP gene.
https://www.sciencedirect.com/science/article/pii/S2451993621001602?via%3Dihub
https://www.sciencedirect.com/topics/medicine-and-dentistry/leukokoria
Writing Assignment #5
In the magazine article “How genes from Neanderthals predispose people to severe Covid 19,” the author explores how the genetic legacy of Neanderthals, which persists in modern humans, may affect our susceptibility to severe cases of COVID-19. The article draws on research findings that indicate certain variants of genes inherited from Neanderthals may increase the risk of severe COVID-19 symptoms in some people. The article begins by providing some background on the relationship between modern humans and Neanderthals. Scientists believe that Neanderthals passed down a gene with early humans about 50,000 years ago, leaving behind a genetic legacy that can still be found in modern humans. The article then goes on to say how researchers have been using modern genomic techniques to identify specific genetic variants that have been inherited from Neanderthals and their potential effects on human health. One study, a genome wide association study and COVID-19 Host Genetics Initiative found that a segment of Neanderthal DNA on chromosome 3, it is associated with a higher risk of severe COVID-19 symptoms. According to the study, people who carry this Neanderthal DNA segment, mostly Europeans, have odds ration of 1.88 more likely to require hospitalization and mechanical ventilation if they become infected with the coronavirus (eLife). The article also discusses a second study, “Regulatory dissection of the severe COVID-19 risk locus introgressed by Neanderthals” which identified another set of Neanderthal-inherited genetic variants that may affect COVID-19 susceptibility. The study found that people who fall within the Neanderthal haplotype and have a set of strongly linked SNPs, which is found in about 30% of people of South Asian descent, are at a higher risk of severe COVID-19 symptoms (eLife). The article emphasizes that while these studies provide important insights into the genetic factors that may influence COVID-19 susceptibility, they do not mean that people who carry Neanderthal DNA are inherently at greater risk of severe illness. Many other factors by different studies show, age, underlying health conditions, and exposure to the virus, also play a role in determining who is most likely to experience severe symptoms. However, the findings do suggest that Neanderthal DNA may be one of many genetic factors that contribute to COVID-19 susceptibility and severity. The article concludes by discussing the broader implications of these findings for our understanding of human genetics and evolution. By studying the genetic legacy of Neanderthals and other extinct human relatives, scientists can gain new insights into the genetic basis of human traits and diseases. As genetic research continues to advance, it is likely that more will be discover about genes and COVID-19, how the genetic legacy of our ancestors continues to shape our health and well-being today. In conclusion, the magazine article “How genes from Neanderthals predispose people to severe Covid-19” highlights the potential influence of Neanderthal DNA on COVID-19 susceptibility and severity.
Alakananda Dasgupta. How Genes from Neanderthals Predispose People to Severe COVID-19. The Scientist Exploring Life, Inspiring Innovation (2023).
Evelyn Jagoda. Et al. Regulatory dissection of the severe COVID-19 risk locus introgressed by Neanderthals. eLife Evolutionary Biology, Genetics and Genomics (2023).