Huntington’s Disease

Genomes Blog Post

By: Emily Larking

Huntington’s Disease is an inherited neurological illness. About 30,00 people in the United States have the disease (1). It is caused by a mutation on the HD gene, that codes for huntingtin protein production which has much more repeats than normal of a certain three-basese sequence (1). This gene is located on the fourth chromosome. It causes the degeneration of nerve cells in the brain that leads to symptoms such as changes in behavior and judgement, uncontrollable movement and physical changes such as impaired ability to swallow or speak (3).

For a predictive genetic test, the price is $200-$300. There is recommended genetic counseling that can cost up to $1,500-$2,000 (4). The most effective test is a direct-to-consumer genetic test that counts the extra repeats of the three base sequence in the Huntington gene on the fourth chromosome through a blood sample (3). The test could use a method such as the Southern Blot method. There is a very strong, almost definitive connection between the mutation in the fourth chromosome that would be tested for, and the disease.

With the direct genetic test, there is a small amount of people who have a borderline amount of repeats. Their family may be called in for genetic testing as well to get a better picture. Huntington’s can be ruled out if there are 26 or fewer repeats (3). The test can’t predict when the symptoms will start or the course of the disease (2).

There are many potential implications if the genetic testing is positive for Huntington’s Disease. There may be personal stress and possible distress to those close to the person with Huntington’s Disease. Also, Huntington’s does not have a cure. Therefore, there is no medical advantage to knowing the test results. You can only treat the symptoms as they appear. You can, however, plan for the future and factor that into any family planning decisions. The Genetic Information Non Discrimination Act (GINA) is a law that was made to stop discrimination from based on genetic information with health insurance. Although it applies to health insurance, it does not apply to life insurance so a positive test may raise prices for life insurance dramatically or may not allow for getting a policy at all. (2)

Since Huntington’s is an autosomal dominant disease, the chances of getting it if even one parent has HD will be fairly high. If both the parents have recessive alleles, the offspring will not get the disease. However, if you have two heterozygous, there’s a 75% chance of getting the disease. If one parent is heterozygous and one homozygous recessive, there’s a 50% chance. If one parent is heterozygous and one homozygous dominant, there’s a 100% chance of getting the disease. If the test is positive, the person should make a plan for the future and be prepared to address the symptoms as they come. I would recommend telling the doctor that the test was positive and ask if they have any suggestions on how to proceed.

Overall, Huntington’s Disease is an incurable disease with limited reasons to test for it. Since it is a dominant disease, there is a small chance of one developing it if it does not run through the family. Although not too complicated to test for, the consequences of a positive result outweigh the benefits in most cases.

Works Cited:

About Huntington’s Disease. (2011, November 17). Retrieved from

https://www.genome.gov/Genetic-Disorders/Huntingtons-Disease. (1)

Genetic testing and your rights. (n.d.). Retrieved from

https://hdsa.org/find-help/healthcare-and-future-planning/genetic-testing-and-your-rights/ . (2)

Huntington’s Disease: Hope Through Research. (2019, August 13). Retrieved from

https://www.ninds.nih.gov/disorders/patient-caregiver-education/hope-through-research/h

untingtons-disease-hope-through#7. (3)

Goodman, L. V. (2013, January 29). Predictive Testing for Huntington’s disease. Retrieved from

http://hddrugworks.org/dr-goodmans-blog/predictive-testing-for-huntingtons-disea. (4)

Outreach Project

By: Emily Larking

For my outreach project, I worked on the tailgating project to help clean up the campus after home football games. Our group examined areas of the campus before and after home football games to see what trash was left behind. It was important to examine the before and after to ensure that the tailgating was responsible for the trash we found and is important to examine in similar research. We discovered through our cleanup on Sunday that, although tailgating did result in a lot of trash, UGA does a great job of making sure it is cleaned up early the next day.

Many people don’t usually think about the impacts of the trash left behind from tailgating and only that it is a fun pre-game activity. This project was intellectually stimulating because although the clean up crew does a good job, there is still evidence of trash left behind if you look hard enough. It’s relevant to UGA students because we all go to school here and many of us live here so we should want to take care of our campus. Our group had to get creative when searching for trash such as heading down into the creek to grab a can.

I assumed campus would be a mess the Sunday after tailgating but in reality, searching for trash was more difficult than I would’ve thought. I discovered areas where trash was most likely to be such as around stairs or near the creek. We knew that our audience were UGA students, many of whom were likely to attend home football games. We want students to know that although it may appear spotless on campus on Sundays, if you look more closely there is trash that can still harm the environment.

I would probably have chosen an earlier game and had the cleanup afterword if I did it differently. Also I may have chosen to search around Tate for trash. It related to the environmental aspects of our class, such as water quality. Pollution negatively impacts this water quality. I learned that although an environment may appear to be spotless, pollution can be found where humans have been. This assignment was effective in helping to show me that UGA does have an issue with pollution in our creeks and other areas.

Climate Simulation

Emily Larking

When I played my role in the policy exercise, I felt like change was possible but it seemed like the politics were prioritized over the Earth. I think nations will need to shift their priorities in order to make an actual difference on climate change.

How did your reaction, comments, feelings; and shifts (if any) in negotiating positions evolve across the rounds and discussions? We learned that deforestation and reforestation had minimal impact on future climate change. The negotiations shifted to be more focus on when the changes will occur and the annual reduction rate.

How did your group change their ideas? What prompted that change? Our team (China) collaborated a lot with the United States and India, which prompted our team to change our ideas. We adjusted and adapted based on the other countries needs or what they were willing to do.

In the end, do you think that emissions can be cut? I do think emissions can be cut but it will take putting aside certain political interests to work for a common goal. It will take a lot of discussion and compromise.

What were the major costs and barriers to implementation of participant proposals? It cost a lot of money to reduce emissions. The developing countries needed the most money and also had the most people who didn’t have a steady food supply. Many countries have other pressing internal issues they need to address and dedicate money to as well.

How can we catalyze change in the US? Education is an important part to spark change in the United States. The younger generations are the future and the ones who will be implementing policies to enact change ahead of us so in order to ensure change occurs, we need to make sure they know how pressing of an issue climate change is.

Emily Larking Watershed Reflection

In this picture, I see an art instillation near a stream that runs under a bridge. The stream is dry in the picture but it looks like water would be there when it rains.
It’s interesting that the picture was taken on campus but there’s no sign of school buildings. I didn’t expect to find art in the middle of a watershed.
This picture wouldn’t originally strike me as having an art installation but you can see it when you look closer. I think someone would see the trees and the dry ground and not be able to tell water is meant to flow there.
When I look at this picture, I feel calm because it features a peaceful, natural environment.
I think this picture is about nature being one form of art and the instillation being another.

Emily Larking

2. I’ve taken biology, chemistry, marine biology and environmental science in high school. I liked environmental science because the class had a lot of applications into everyday life.

3. I would like to learn a little bit more in depth information about biology and how we can look at the environment through that lens.

4. The outreach with local high school students interests me the most. tutored other students throughout last year and I like teaching other people topics that I know a lot about. Resistance to antibiotics is a very real and relevant issue that isn’t as common knowledge as it maybe should be.

5. I think I could learn a lot about how other people process information and they incorporate that into their lives. For example, showing the aftermath of tailgating and how much trash is left behind could really change how someone approaches their next tailgate.

6. I’d like to learn more about how organisms adapt to climate change.