My topic is "Assessing the Needs of Adults with Genetic Disorders." Pretty broad, right? I guess that's one thing about my project I like. Some of my classmates have a more pinpoitned subject, but I like that I can kind of take my project wherever it wants to go. I'm working with a great advisor, Dr. Rob Hopkin, who's really active in our program and runs the Human Genetics course we (the first years) just finished. I have to be honest though - the project is intimidating! Right now I'm so excited about my thesis and about the research I could be doing. I feel like it might actually make a difference to genetic counseling and to how we practice. Basically, there are a lot of genetic conditions where children survive into adulthood and cannot be seen at Pediatric instutions which just happens to be where a bulk of geneticists practice. Obviously this would make their medical management, prognosis,etc. very hard. On the same tolken, some people may not even know that they have a genetic disorder until a family member is diagnosed and then they come in for adult genetic services (not to be confused with adult ONSET.. yikes!). My project is looking at what these adults need, why they came to genetics, what difference a genetic consultation made in their medical management, and how health professionals can provide best care for these patients. It's exciting now, but I'm sure after 18 months of it I'll be ready to be done!
I asked a few of my classmates what they thought about Thesis Projects. Meron Azage, a fellow GA with me, sent me this little blurb:
"I will be working with Elizabeth Schorry, MD on her project to look at fracture rates in adults and elderly patients with Neurofibromatosis Type 1. Dr Schorry is an associate professor of clinical pediatrics and an expert researcher in the field of NF1 study. I am interested in this topic and I am very excited to get started on this project. I am however, a little intimidated by this process because I have never worked on a study before. My plan of action at this moment is to stay organized and remember the satisfaction of overcoming a challenge."
Some of the other topics this year include:
- Predictive Testing in Adult onset Neurological Disorders
- Long-Term Cancer Survivor Genetic Assessment
- Impacts of BRCA mutations on family relationships
- Investigations on Acute Necrotizing Encephalopathy
They're all so different it's so exciting! I feel like we all have the support of each other and the program that we will be able to be successful in our projects - hopefully without too much frustration!!
Leslie Gress, First Year
