Genome Test – Hypertrophic Cardiomyopathy by Michael Burnett

Hypertrophic Cardiomyopathy Definition

Hypertrophic Cardiomyopathy is a genetic heart disease that affects one in every 500 people. HCM is a disease in which the heart muscle (myocardium) becomes abnormally thick (hypertrophied). The thickened heart muscle can make it harder for the heart to pump blood.

Genetics: The Specifics

Approximately nine genes that can express genetic variations that impact the trait. An insertion/deletion polymorphism in the gene encoding for angiotensin converting enzyme (ACE) alters the clinical phenotype of the disease. The D/D (deletion/deletion) genotype of ACE is associated with more marked hypertrophy of the left ventricle and may be associated with higher risk of adverse outcomes. Mutations associated with HCM development have been found in genes that encode components of the thick filament proteins: myosin-7 and myosin-binding protein C and in genes that encode the components of the thin filament proteins: cardiac troponin T, cardiac troponin C, cardiac troponin I, and α-tropomyosin (Capek). Myosin 7 does occur in genes expressed in the head region. The amino acids created by the mutation is responsible for HCM development (“Familial Hypertrophic Cardiomyopathy.” ).

Reasoning for Testing and Testing Information

HCM is the leading cause of sudden cardiac death in young athletes. Getting tested might be beneficial at a young age, especially if physically active and/or runs genetically in the family. The trait can be tested with an echocardiogram ($2000+), a heart test with 80% accuracy. This would be followed by an electrocardiogram ($50) to test for heart abnormalities. Cardiac magnetic resonance imaging is a test considered the gold standard, determining the properties of the left ventricular wall for when echocardiogram proves inconclusive (“Echocardiograms for Heart Valve Disease.”). If the trait is carried, one might already notice shortness of breath, chest pains, and decrease in blood flow, as these are symptoms of the trait.

Reasoning for not Testing

An echocardiogram is harmless to the individual, as it does not contain radiation exposure to take pictures of the heart. The only reasons one might not take the tests is cost ($2000+) or an accuracy of 80%. The low accuracy derives from uncertainty of variations affecting the HCM condition, which could be a potential reason for not taking the genetic test. Taking the test could lead to other tests such as transesophageal echocardiogram (TEE), where a tube is put down the throat with a camera to take pictures. This could lead to throat problems and other complications.

Testing Positive Can Lead to Negative Outcomes

Discovering the trait is carried could result in both detrimental emotional and financial outcomes. Through an athlete’s perspective, discovering the echocardiogram results are positive could tremendously affect emotions in a negative aspect, as he or she may need to quit physically active sports for the rest of their life. However, those not as physically active can live a normal life expectancy as long as they do not participate in any strenuous activity. Financially, one could expect to buy medications for the chest pains, shortness of breath, and palpitations. There are also options of open heart operations to reduce symptoms, but cost levels can be extreme. The most extreme option includes a full heart transplant, which cost $1.4 million dollars, and has a 94% chance of living no longer than seven more years.

Family Genetic Risk

The genetic risk for HCM is passed from one generation to the next by way of dominant-acting mutations in genes governing the structure of the heart muscle. That means that first-degree relatives (parents, siblings, and children) of an affected person have a 50% chance of having inherited the same mutation (“Hypertrophic Cardiomyopathy: Who Has an Inherited Risk?” ). If tested negative, that may not mean the trait is not present. A cardiac magnetic resonance imaging may be needed to support initial test results. When tested positive one should plan for emotional and financial responses that were previously listed, as well as eliminating strenuous athletic activity for the rest of their life. Telling your doctor exact specifics about the carried trait and symptoms might be necessary in terms of medication prescriptions and further treatment options. No further screening of the heart area are needed when tested positive. In terms of environmental factors, no strenuous heat or activity should be present.

Works Cited

Capek, Pavel, et al. “Hypertrophic Cardiomyopathy: from Mutation to Functional Analysis of Defective Protein.” Croatian Medical Journal, Croatian Medical Schools, June 2011, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118724/.

“Echocardiograms for Heart Valve Disease.” Choosing Wisely – Promoting Conversations between Providers and Patients, http://www.choosingwisely.org/patient-resources/echocardiograms-for-heart-valve-disease/.

“Familial Hypertrophic Cardiomyopathy.” SNPedia, https://www.snpedia.com/index.php/Familial_hypertrophic_cardiomyopathy.

Harvard Health Publishing. “Hypertrophic Cardiomyopathy: Who Has an Inherited Risk?” Harvard Health, https://www.health.harvard.edu/heart-health/hypertrophic-cardiomyopathy-who-has-an-inherited-risk.

Project Reflections- David Wang

On Saturday, from 2:00 to 4:00, I went with Nate, Richard, Stephen, and Will to promote awareness about waste and sustainability for our Tailgating Service Project. We traveled across various areas in the campus, including Myers Quad and the Physics building, to educate tailgaters about recycling and gave them pins, informational cards, and trash bags to help promote their incentive to clean up after themselves. We switched around when we walked up to tailgaters in regards to promoting awareness about recycling and sustainability. Because it was a game day, we were all also expected to promote school spirit, such as by saying “go dawgs.”

I was very pleased in regards to the experience. The tailgaters were very friendly, and they were all interested in regards to the messages that we had to say. Before the experience, we all realized that we needed to give a speech to tailgaters about sustainability, but we were all somewhat anxious about giving such a speech, as nearly all the tailgaters were strangers to us. However, their friendliness helped us better give such a speech, which helped us spread the message about sustainability.

The experience helped me better understand the knowledge that some tailgaters are unaware of in regards to recycling and the sustainability incentives that the campus itself has, such as how UGA has various cardboard boxes around the campus so that tailgaters can easily dispose of their waste. After the experience, I was able to better build up my social abilities as a result of traveling around the various tailgates. Before the experience, I thought that spreading a message could ruin the tailgating experience for others. However, after the experience, I realized that this is not the case.

As a result of this experience, I will use the knowledge about recycling and sustainability for future events to encourage others to clean up after themselves. I understood the importance of recycling, but after the experience, I learned more about the items that can or cannot be recycled. In the future, with the knowledge that I have gained about goods that can or cannot be recycled, I will ensure that I properly dispose of trash in order to promote sustainability as a whole.

Nico Fontova Tailgating Reflection

There was not much trash left out after the game. The cleaners athletics hired did a wonderful job making the campus look almost as if nothing ever happened—keyword being “almost”. With so many people around, there certainly was much more trash to clean that street sweepers and large-scale cleaners never would have spotted, such as the solo cup pictured above. We found a lot of solo cups, water bottles, beer cans, etc., which likely never would have been spotted had we not been there. The garbage was hidden in bushes, and under cars, and because of that it is important that small groups of people work to clean it up. Men in trucks were likely never to see the several dozen beer cans we found in the trees, but they are still damaging to the environment. We even found an old tire and ironing board, and who knows how long those were in there. There is almost always waster in our environment, and that is why taking at least a hour every once in a while to clean is so important. My impact may not have been large, but it is a step in the right direction, and it shows that something should be done to help clean campus in addition to what the University already pays for.

Project Reflection – Chase Ghannam

Trash coming from a small 10 square foot section in the woods behind apartments and next to a fraternity house.

Joshua Baker and I volunteered at the Carriage Lane site for the Rivers Alive Outreach. We took part in a trash clean-up. Carriage Lane is between the Clarke Garden apartments and the Woodlands of Athens. It is also next to the Phi Kappa Psi fraternity house. Consequently, Joshua and I discovered plenty of litter ranging from empty bags of Doritos to the more prevalent beer bottle and beer can. The Carriage Lane section that I was apart of was further broken up into several teams. We were originally going to be assigned a specific part of the road by the discretion of the leaders, but Joshua and I asked if we could clean up a specific spot. It was in the trees next to the garbage containers and the closest spot to the fraternity house. As a result, there was a lot of trash to clean up.
The location we cleaned up was right next to the garbage container, so I assumed that people would just walk a few feet to that box to discard their waste. However, I was surprised to find out that this area had the most litter not only in its immediate vicinity but also 10-20 feet away. This revelation made me question the social implications of the people living in this area. It led to outward pity and sadness. Furthermore, I am increasingly concerned about the laziness of people and our community as a whole. Athens is public and all of ours to enjoy. Given this, why hadn’t this been cleaned prior to our project? In a larger sense, I am concerned about how numerous this type of negative activity is for America as a whole.
I wish I could say I have hope for the immediate future. Given that Athens is blessed with the environmentally conscious University of Georgia, it can be assumed that the most effort possible is being brought forward to decrease environmental degradation. Litter requires the most menial action to clean up. All you need is gloves, a grabber, and a trash bag. It doesn’t require extensive research or any advanced machinery. If Athens has large amounts of litter even with an active eco-conscious community and programs such as Rivers Alive, then any city could be extensively littered. But that situation is actually not the case and this is where my hope arises: city-planning. With increasing mapping technology, city planners can absorb and note information about where trash piles up. It turns out that litter is dismissed as being solvable by menial action. However, litter clean-ups could be improved from more advanced information. Technology can be used to decrease our environmental pollution and I have long-term hope for those changes.
I enjoyed my time with Josh and my time helping the environment. It felt great to contribute. I was impressed by Rivers Alive as a whole and their ability to locate sites that are in need of cleaning up. However, I am saddened that the litter exists in the first place. This experience also reminds me of the great demand Athens and other communities have for volunteer work, so I will be doing more clean-ups in the future. I will also communicate my concern to people I know so that the word goes around. I hope that Athens and other communities can solve their litter problems and promote a greater eco-consciousness for the world.

Final Project Reflection – Rowan Wiley

I attended the Rivers Alive waterway cleanup on 10/5 from 9 am until 11:30 am, and worked all morning at the Derby and Branch site removing trash from the creek and bagging it so that it could be disposed of. There were all kinds of things left there including a giant rug, two animal skulls, and a crossbow bolt, but bottles seemed to be the most common.

I was shocked by how much trash there was, I had no idea that people threw that much into waterways. It didn’t look too bad from the road, but once we got into the woods and the creek there were hundreds of pieces of trash scattered everywhere. Some of the stuff had obviously been there a long time, but other pieces of trash were relatively new. This proves that this is an ongoing problem that started many years ago. Luckily, we had a lot of people working with us, and we were able to get the majority of the trash cleaned up and taken care of.

Keeping our waterways clean and trash free should be a relatively easy task, it doesn’t take much effort at all to hold on to a piece of trash and place it in the proper receptacle rather than chuck it into a stream. Also, if people just picked up trash that they found instead of ignoring it, the problem wouldn’t reach the scale that it is at today. Otherwise you end up with a huge buildup of trash and waste products which profoundly affect the environment. Plants and animals are harmed by litter and water quality can suffer as a result of unsafe trash.

I felt like we accomplished a lot at the event, but that if we don’t come back frequently the problem will just reappear. I think an important step to take in order to address this problem is to increase awareness and try to educate people on the harm that they do when they throw trash into a waterway. I am willing to continue to work to pick up trash that others leave behind, but I think that it would be a lot more efficient if I instead helped show them why it isn’t ok for them to litter.

Bio Outreach Project – Trudi Sundberg

For my outreach project, I went to Clarke County High School and helped the AP Environmental Students with their bacteria experiment. For this project, we showed the students how to count, label, and analyze the plates and data. This skill will be important for their labs in the future, and for my own. We used the plates that we had already analyzed in class, so it was easy for us to understand what to do with them, but for me it was a little difficult to explain to the students what they should be doing/to teach them what I already knew. It was important to be able to relate to the students as we helped them, because they would be more responsive. I don’t think that I could be a teacher in the future, but I enjoyed helping the students younger than me learn about the same subjects I was. I think that in the future, I would try to do things in a more organized way, so that the process would run more smoothly. I enjoyed being out of the classroom and having more of a hands-on approach. As I helped the students learn about antibiotic resistance, I felt like I was gaining a new understanding through the process of teaching them. I hope that it made an impact on them, so that they also understand the importance of the subject. I liked this project because it seemed like I was doing a good thing in the community, rather than just learning something in a classroom. I think that in the future I’ll try to think about the way that the things I’m learning will impact the next generation of students.

Climate simulation – Mary Catherine Meno

When I played my role in the policy exercise, I felt fairly helpless. My role was developing countries, and we had no resources or money to contribute to reducing climate change. However, after negotiating our outlook got better, as we realized that there were various steps we could take to do our part since the other countries were willing to help us out with funding. Our group originally felt that we would be able to make the most impact if we drastically reduced our deforestation and increased afforestation. These ideas changed once we realized that even if we put 100% of our efforts into the forests, it didn’t contribute that much to decreasing the overall change in global climate. I think that it will be very difficult to cut emissions, but that it is something that can be done. Each country would have to focus a lot of their time and money to do this, though there are many people and countries who don’t believe that we should. The major costs and barriers to implementation come from protecting the forests, planting new forests, and especially from attempting to decrease the amount of CO2 released by each household in well developed countries such as the US. Change in the US can be catalyzed by passing legislation that significantly increases the restraints on corporate green house emissions.

Climate Simulation

When I played my role in the policy exercise, I felt frustrated. It was hard to try and figure out how to compromise with other countries when I felt like my country was doing everything right and they were making the mistakes, even though I knew that wasn’t entirely true. It felt like no matter what we did, it was impossible to come up with a realistic plan to reduce emissions that would actually reach our goal.

How did your reaction, comments, feelings; and shifts (if any) in negotiating positions evolve across the rounds and discussions? My group was forced to accept more reductions in our emissions in exchange for the money we needed, which was frankly unrealistic, but included for the sake of the simulation.

How did your group change their ideas? We had to shift from being very hopeful and conservative at the beginning to making insane reductions by the end in order to achieve the results that we wanted.

What prompted that change? All the countries had to make more drastic changes as the rounds continue, because we looked at the chart and saw that the rise in temperature was still not under 2 degrees. It became more intense debate as the teams all tried to figure out what would finally bring us under 2 degrees.

In the end, do you think that emissions can be cut? I believe emissions can be cut, but not to the level that they need to be in order to protect our climate fully.

What were the major costs and barriers to implementation of participant proposals? Countries did not want to give money because they needed to focus on their own efforts, but the countries in need could not implement any plans without funding from richer countries. It is all costly and easy to place blame on others.

How can we catalyze change in the US? We can reduce our emissions individually and try to live a more environmentally-conscious life. We can also make our government aware of the fact that this is an issue that matters to its people.

Climate Simulation

Nate Ware

When I played my role in the policy exercise, I felt that it would be difficult for all of the nations to come together to create a solution. Throughout the rounds we started out by trying to convince the other groups to do what we want, but as it evolved we began to make compromises and bargain to get what we want. My group did not change our ideas much, but we did change our peak year and reduction year to be sooner. We did this in order to prompt the US and China to raise their rate of reduction. I think the emissions can be reduced but it would be very difficult both to negotiate as well as just attempt in general. The major costs would be the creation of green technologies and barriers include the corrupt governments of the developing nations so the developed countries are less willing to donate. It would also take many years set up the programs to reduce the emissions. The proposals rely on countries stopping their emissions output which is much more difficult in reality than in theory. By offering incentives for greener living practices and making the citizens more aware of how soon the effects can be seen we can catalyze change in the US.

Climate Simulation- David Wang

When I played my role in the policy exercise, I felt that negotiations were extremely difficult. As the exercise went on, my views in regards to meeting the temperature goals became more radical. The fiscal and climate goals felt extremely difficult to reach, as all the countries also needed to satisfy their own needs, which made compromise extremely difficult. This caused me to believe that every country needed to compromise a lot more of their resources in regards to fighting climate change. Our group, which represented India, did not change our stance much because India itself does not contribute much to the rising carbon emissions. Initially, our group demanded for money in regards to fighting climate change, rather than contributing, because India is a poor country. However, we elected to not change this stance due to the lack of demand from other countries in regards to changing this stance. In the end, I believe that emissions can be cut. However, there are major costs and barriers that need to be overcome. Assuming the simulation matches exactly like the real negotiations, the high costs demanded by developing countries need to be overcome. The best way is through technological innovation, in which better access to more advanced technology will help increase efficiency and reduce costs. Furthermore, the US and China economic war needs to be overcome. Because the US and China contribute heavily to climate change, most notably China, negotiations are mandatory. Compromise is necessary. However, such discussions may be extremely difficult. In order to catalyze change in the US, everyone needs to encourage entrepreneurs with business ideas that combat climate change to step forth. This type of encouragement is most likely to meet bipartisan support from the government, as environmentally friendly businesses help the climate while bolstering the economy. Currently, there are many successful and creative inventions from such businesses that are combating climate change, such as carbon capture plants and solar panels.