Applicant Data:

Kuhn, Sophia
541 Vanderbilt Avenue
Virginia Beach, VA 23451
(757) 633-1104
(757) 961-1573
kuhnsa123@gmail.com

​Mentor(s) Data:

Dr. Samantha Vergano

Children’s Hospital of the King’s Daughters
601 Children’s Lane
Norfolk, VA 23507
(757) 668-9723
samantha.vergano@chkd.org

Project Objective(s):

As a result of this capstone experience, I will

· Learn the medical application of genetics in reference to patient care and the use of various screenings
for diagnosis and possible treatment of a gene-related disorder.
· Practice using terminology and concepts learned through related classes and research to navigate
through the medical facility and engage with geneticists.
· Observe the process of admitting, diagnosing, and treating a patient with a genetic disorder through
the work of a genetic doctor and geneticists during clinic and research.

Proposed Product and Audience:

The product will be a series of case studies of patients that ​Dr. Samantha Vergano​ is evaluating. These case studies
will begin by reviewing patient history including their reason for admission as a patient in the medical genetics
department. The case study will, hopefully, review past and current meetings with the genetic doctor. However,
considering that medical genetics is a sensitive topic, I most likely will study doctor notes taken during an
appointment. If possible, during the time of the mentorship, a treatment for the patient would also be reviewed.
Furthermore, the genetic disorder of concern will be studied. The information collected and research for each case
study will be written into a paper that discusses the patient and their related issue. Conducting a case study will help
me understand how to study and write about a patient while familiarizing me with the field of medical genetics and
its related professions.
Summary/Rationale:

My interest in genetics and genetic disorders began during my sophomore year in Magnet Biology. I decided
to dedicate my I-Search paper to genetic mutations, reviewing three different genetic disorders. This capstone project
provides me the opportunity to apply my interest in genetics in the professional field of medical genetics. The several
hours of research and learning about genetics and genetic disorders, as well as discussing genetics with teachers,
medical students, and medical professionals, my appreciation for genetics has progressively grown stronger.
Genetics are the basis of life, controlling how an organism looks and functions. Studying genetics is crucial to
understanding how cells function, which applies to current research with STEM cells and CRISPR-Cas9 in genetic
engineering. However, my study of genetics has taught me that there still remains a large amount of genetic disorders
that are currently not understood or do not have a viable treatment. With a desire to interact with patients and study
genetics, medical genetics provides me the best outlet to explore my interest in genetic mutations and human genetic
disorders.

Genetics have provided and continue to provide answers to rare disorders observed in humans, and the study of
medical genetics combines laboratory studies a patient care, allowing people to understand how their genetics affect
their lives. A mentorship with ​Dr. Samantha Vergano​ will allow me to observe and understand how patients are
handled when discussing genetics. In addition, I will observe how geneticists, genetics doctors, and genetic
counselors work together to analyze a patient and their genetics to provide a valid diagnosis and course of action to
mitigate symptoms or cure a disorder. Working with a genetic doctor will provide me the opportunity to not only
study rare genetic disorders, but to observe how genetics connect patients to their disorder in medical genetics.

In this part of the proposal the student will present a persuasive argument as to what will be accomplished, why this
capstone project is important (personally, locally and/or globally) and why it should be approved. What are the major
issues associated with this topic (evidenced by cited research and student analysis)? Why would this experience be a
good fit for the student?

Proposed Timeline:

May 2019: 20 additional hours to review CHKD Standards of Information and Immunization Requirements, and fill
out required CHKD observer paperwork. Continue research by reviewing the National Organization for Rare
Disorders (NORD) website and information from the American Academy of Pediatrics.

Early July-August 2019: Complete 70 hours of mentoring ​Dr. Samantha Vergano​ at ​Norfolk​ CHKD; complete at
least 20 hours of research on genetic disorders observed in case studies and reviewing patient history.

August- September 2019: Spend around 25 hours outlining and writing the case study papers.

September-November2019: Spend an additional 20 hours planning and creating a trifold board and presentation.