Senior, Biomedical Education (Sophie Davis)
I traveled to Salisbury, England as part of The Mack Lipkin Broader Horizons Program, a fellowship offered through Sophie Davis. My mentor was Dr. Patricia Jacobs, who first made her mark in the field of human genetics in 1959 by contributing to the notion that maleness in humans was attributable to the Y chromosome. She was the first scientist to describe a chromosomal abnormality in humans, the additional X chromosome in Kleinfelter Syndrome. I joined Dr. Jacobs and her team at the Wessex Regional Genetics Laboratory, based in the Salisbury District Hospital, from June 15 to July 28. This lab is both a diagnostic lab and a research lab; all babies born within an appointed region are screened for genetic abnormalities here. Additionally, the researchers carry out investigations on certain subsets of the patient population in an attempt to better understand how many genetic abnormalities arise.
I worked with a group of researchers on a project that aimed to characterize chromosomal deletions and duplications. While some classes of chromosomal abnormalities, most notably trisomies, have long been established as being associated with increased maternal age, researchers have only recently been able to characterize the etiology of other common structural chromosomal abnormalities. This is largely possible because the sequencing of the human genome has provided resources that truly redefine research in the field of genetics. Phenotypically, these deletions and duplications have been shown to be a significant cause of morbidity and mortality in the human species. More specifically, many patients with chromosomal imbalances present clinically with mental retardation and/or dysmorphic features. The research project I participated in aimed to determine the parental origin of the imbalance in approximately four hundred cases. We also examined parental age effects, in an attempt to learn more about how such imbalances arise, and to determine whether certain groups are at a preferentially higher risk of having children with chromosomal imbalances.
Genetics was probably the first unit I loved in middle school and high school science class. It's always been awe-inspiring to me, the way this four-letter code determines virtually every single thing about a human being. When I began the science research program in tenth grade, I knew that I had to work on something in the field of genetics if I wanted something that truly piqued my interest and captivated me. Under the mentorship of a high school teacher and a biology professor at Dartmouth College, I carried out a project looking at the effect of a fungicide commonly used in cosmetics on meiotic nondisjunction in 2005. That summer turned out to be the single most valuable experience of my educational career to that point, in terms of how much I learned. Five years later, another opportunity to participate in a research project of my choosing came up, and this time, I would get to explore unanswered questions regarding another type of chromosomal abnormality. That's why I was very excited to travel to Salisbury and work with some of the best researchers in the field.
I learned that there is likely a paternal bias for the transmission of chromosomal imbalances, particularly deletions. Additionally, there appears to be an age effect such that chromosomal deletions or duplications are more likely to arise in older fathers. This work is contributing to our understanding of the etiology of one class of chromosomal abnormality. In helping to carry out this research, I learned how to carry out several basic molecular genetics techniques, including common procedures such as PCR, as well as newer technologies such as array comparative genome hybridization. I also learned that while I have a deep admiration for clinical scientists and researchers, it's something I'm not suited to as a career. I don't possess the creative, resilient nature necessary for being a researcher, and I will forever be in awe of how they always seem to know how to navigate uncharted territory.
In addition to the time I spent working on the research project, I also spent a couple of days with the clinical geneticists at the site. At the lab, I mostly saw genetic test results illustrating a given anomaly, but, when I spent the day with the clinical geneticists, I got to see the patients as well. In the pediatric population, many children who have been diagnosed with a form of mental retardation have some underlying chromosomal anomaly, so some of the patients that were suspected of having a disorder came to visit the clinical geneticist. One of the primary duties of this type of doctor is to determine which syndromes, if any, the lab can perform tests for using the patients' DNA. It was incredibly humbling to see parents bring in their young children for genetic testing. I also learned a lot from the physician's point of view; for example, which kind of morphological features to look for when examining children suspected of having particular chromosomal abnormalities. I love seeing things come full circle - from initial patient presentation to lab work to diagnosis and treatment plan - so my time with clinical geneticists was extremely memorable. Seeing patients who were undergoing genetic testing for diseases like breast cancer, Marfan's Syndrome, Beckwith-Wiedemann, William's, and Huntington's Disease, among others, formed an indelible impression on me.
Make opportunities when it appears that there are none, especially when it comes to participating in research projects. No professor is going to email you and ask you to hop on board their upcoming project. If there is a topic that you want to learn more about, you should take the initiative and jump right in. On a different note, don't feel compelled to do research just because you feel like you have to! If you end up participating in a project you hate, it's not going to be fun for anyone. Pursue your other passions; stuff you would do more of if you could.
Open the original version of this page.