Marfan Syndrome

Marfan syndrome is a genetic disease that affects the body’s connective tissue. People with the disease tend to be extremely tall and slender. This disease affects about 1 in every 5,000 people [1]. Marfan syndrome is typically caused by a mutation in the FBN1 gene which affects the way in which the protein fibrillin-1 is made. The production of the protein is enhanced and the surplus in fibrillin-1 is what harms the connective tissue, ultimately causing problems all over the body. Because Marfan syndrome causes complications throughout the body— such as in the heart, bones and joints, lungs, and nervous system— it makes sense that the FBN1 gene variation is what causes the disease [2].

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Why and How to Test

Testing for Marfan syndrome is very important if you think there might be a chance that you have it. This is due to the fact that even if the symptoms are not always life threatening, they are detrimental to your way of life. If you find out that they are a result of Marfan syndrome, you can be more cognizant of the way you go about life so that you can live up to the normal life expectancy that the disease usually entails. For example, having Marfan syndrome would make it dangerous to play contact sports, both because of the brittleness of your bones and the higher risk you have for heart enlargement and heart failure as a result of that. The most effective and efficient form of genetic testing for Marfan syndrome is single gene DNA sequencing, as the disease is typically a product of a variation in the FBN1 gene. This is the case for up to 90% of the time. If the result of the test is negative, it might be helpful to do the same DNA sequencing for TGFBR1 and TGFBR2. If the aforementioned complications are present and testing is positive for a variation in any of these genes, then it is highly likely that someone has Marfan syndrome [3]. But if there are no symptoms present, then there is a chance that the person has another disease. There is a 50% chance that a parent with the disease will pass it on to their offspring, so it is important to have as many family members as possible test [1].

Scientific Risks of Testing

Having a genetic variation in the FBN1 gene usually causes some sort of condition that is paired with Marfan syndrome, such as the common variant rs12916536 leading to adolescent scoliosis [4]. However, testing for this gene is not always straightforward. For example, other variations of the gene can be linked to ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome [5]. Because of that, it is important to test multiple family members if there is a discovered variant in the FBN1 gene. Some of these gene changes could actually be polymorphisms, which are not likely to cause Marfan syndrome [5], so the risk of someone having a variation in the gene to also have Marfan syndrome is not a certainty, but not having that variation does mean that one does not have the disease.

Ethical Considerations

Most of the ethical questions regarding genetic testing used for Marfan syndrome is meant to question if genetic testing is even the best method to determine if one has Marfan syndrome. First of all, the cost might not be worth it because of the obvious physical characteristics of one with Marfan syndrome. As a child works through adolescence, they eventually would be able to notice their unusually long limbs and fingers and would likely have other abnormalities common for the disease. While that might not be indicative of anything other than just being tall and skinny, there are enough complications with the body caused by Marfan syndrome that would pile up and ultimately cause worry. But even still, they would have to test in some manner to be sure.

Another reason why a DNA sequencing might not be the best option is that there are other tests that one can have, such as an EKG, cardio ultrasound, cardiac MRI, or CT scan. These are the best ways to see abnormalities with the heart, blood vessels, spine, and skeletal system. These tests however are typically more expensive than the genetic test, which is usually around $2,000 [5]. However, being able to see the plethora of complications through these medical examinations seems to be more effective than the genetic test, as variations found in the test might not prove someone has Marfan syndrome. People who take the genetic test would end up having to pay north of $2,000 more for a different test to get complete accuracy.

There also come the behavioral and psychological effects that come with knowing you have Marfan syndrome. Initially, there are feelings of denial, anger, and depression, which come with many diseases. But accepting that you or someone close has the disease means living a different way of life. For example, it is important to stay out of active sports and all activities that put someone at risk for severe injury. Also, people affected must come to terms with the idea that they look different than others and that they would in some cases need special protection. Finding the balance of protecting yourself or your child while still being as involved in activity as possible will alleviate some of the frustration with the way of life [6].

Questions to Ask Before Getting the Test

If someone in the family has already tested positive, what are the chances that a child also tests positive? Children have a 50% chance of having the disease if one parent does. For more extended family, the chances vary as different parents come into play.
What should be the plan if someone tests positive? The first thing to consider if someone tests positive is whether or not they want to participate in further screenings. If the cost of that isn’t worth it, then someone who tests positive should at least act as though they do have the disease, especially if they possess some of the bodily complications.
What types of environmental factors should they consider changing if they test positive? Someone who tests positive should most certainly continue to stay active, but to a much lesser degree. Active sports and heavy lifting are highly dangerous to someone with Marfan syndrome, but it is absurd to completely remove physical activity from someone’s life.

Ultimately, a certain level of concern that you might have Marfan syndrome would make it worth it to get tested in some manner, whether it be genetic testing, medical screening, or both. Knowledge that you might have to change your lifestyle is scary, but it beats the likely alternative of dying from the complications of Marfan syndrome when you weren’t aware you had it.

References

“What Is Marfan Syndrome?” The Marfan Foundation, 3 Oct. 2018, www.marfan.org/about/marfan.
“Marfan Syndrome.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gtr/conditions/C0024796/.
“Marfan Syndrome – FBN1 Gene.” National Center for Biotechnology Information, U.S. National Library of Medicine, www.ncbi.nlm.nih.gov/gtr/tests/502890/.
Sheng, Fei, et al. “New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis.” National Center for Biotechnology Information, U.S. National Library of Medicine, 15 Feb. 2019, www.ncbi.nlm.nih.gov/pubmed/30044367.
“Marfan Syndrome Diagnosis and Tests.” Cleveland Clinic, 3 May 2019, my.clevelandclinic.org/health/diseases/17209-marfan-syndrome/diagnosis-and-tests.
Bennett, Robin L., and Meinhard Robinow. “Marfan Syndrome.” University of Washington Orthopedics and Sports Medicine, orthop.washington.edu/patient-care/articles/arthritis/marfan-syndrome.html.
Zink, William P., “Marfan Syndrome.” August 2015, http://zinkmd.com/portfolio/amet-sollicitudin.

River’s Alive Cleanup

For the outreach project, I participated in the River’s Alive river cleanup on the morning of October 5th. For this, I went to the North Oconee Greenway right off of College Avenue, north of campus. When I got there, I was given gloves, a vest, and a trash bag and was told to pick up trash for about a quarter of a mile stretch along the river. What I noticed was that where there was trash, there was a lot of trash. But a lot of the areas along the river were fairly clean.

It genuinely frustrated me about some of the trash that people left. A lot of it was broken glass chards (that were extremely thick), entire milk jugs, tires, and more things that are incredibly noticeable. How can the city of Athens take any pride in its river greenway if there is blatantly obvious trash left. I expected to see more cans, wrappers, and bottles along the river, but I was unpleasantly surprised at the large scale trash that there was. Still, it felt good to collect.

Anytime I participate in activities of clean-up, I feel genuinely good about the experience. Everything I pick up makes a difference, because I might be the only person who notices something and decides to do something. I learned that to get the most out of the experience though, it is important to leave nothing behind because as I said, it might never get picked up. For example, leaving behind a non bio-degradable broken glass bottle could end up hurting someone who doesn’t expect to step on it when they are walking along the river shoeless.

To say that I am going to go out of my way to pick up trash at the river again because of this experience would be a lie. However, I am going to be more conscious about leaving waste along the roadside, which is where I ended up seeing a lot of the smaller scale trash that I expected down by the river.

Sam Greenwell Climate Change Simulation

When I played my role as China, I felt as if I was the middle ground for the developed and developing nations, and it was difficult to get other countries to negotiate. Being more developed than countries like India and other developing nations, we were expected to contribute more to global funds. However, being less developed than the United States, we were the largest source of carbon emissions in the world and we had to work to resolve that.

My stances didn’t change much on how the global temperature would stay within 2 degrees Celsius of what it is at now by 2100. I knew that because China was the largest emitter of carbon that we’d have to contribute in a variety of ways, but I figured that afforestation was not one of those ways, which I was correct about. Although it is portrayed in media as a key resolution to the problem of climate change, increasing our afforestation (which is not feasible in a land where so many people rely on agriculture) made a very little impact.

We did however change our ideas on the basis of peak year. We figured that China was going to peak in 2040 and then plateau with no changes, likely due to the fact that their population rates are slowing down as time progresses. So, keeping the peak year as 2040 and then working to reduce carbon emissions in the years following would work best and most plausibly. However, that didn’t make enough of an impact on the climate, so we bumped up the peak year all the way to 2020, which might not be completely realistic, but it was the weight that China had to carry to avoid increasing carbon emissions substantially over the next 20 years. Working on negotiations with the US allowed us to realize that we would need to do that.

We were able to witness the emissions that were cut out from this change. However, no matter what changes we made, we were always the leader in carbon emissions. The footprint that has been left from China is already impactful enough to keep the global temperatures rising at a rate that is more than what is ideal.

The barriers of the proposals we made were that we could not direct much effort towards prevention of deforestation or encouraging afforestation because of the population and emphasis on agriculture. However, we found that to not be very impactful anyways and we found that the impacts we were making as far as contribution to the global funds were much greater. Another barrier though was that the developing nations outside of China were asking for far too much and it was tough to negotiate with them.

We can catalyze change in the US by starting now to reduce carbon emissions. As the US group noted, the political situation in the US could be different in ten years from now, so making sure that this political landscape is focused reducing carbon in case leaders in the future stray from that idea is important.

Sam Greenwell Watershed Blog Post

1. In this picture, I see the culvert, which is one of the main places that the river flows through. Because the river as well as simple rain water flows into it, the entire hill is eroded.
2. What stuck out to me was the fact that the entire hill has turned into dead grass/dirt from the erosion. This monstrosity of a structure is an eyesore to the surrounding nature of the campus.
3. This picture makes me feel as if there is no point in rebuilding the landscape of the area around the culvert. Even the tree on the other side is struggling to handle the erosion on this hill. Someone who walks by would probably see it as something that isn just there, but doesn’t understand why it has put so much ware on the grass.
4. I feel a little dead inside when looking at this picture. The culvert has made this area a wasteland in the middle of a natural environment.
5. I think this picture highlights the inefficiencies with the culvert. It makes me wonder how just one torrential downpour would impact the surrounding hill.

Sam Greenwell

In High School, I took Biology, Chemistry, and Physics, with Chemistry being at the AP level. I definitely enjoyed Chemistry more than the other two because of the teachers I had, but physics was also a fairly enjoyable class. I would like to develop a better understanding of the relevance that Biology has on my everyday life, which is something that didn’t happen in high school Biology. The tailgate project most intrigues me, because I have tailgated before, and being in high school at the time made me a little naive to the fact that the trash left behind really leaves a footprint. Because I know that tailgating is such a big deal on this campus, I would assume that would be the most appealing to a great deal of students. I would probably learn that cooperation when it comes to civic engagement is not ever going to be mandatory, so it’s hard to be too aggressive in getting people to help out. But at the same time, in order to make a change, assertiveness is key. I will also learn that while what we do can be a step in the right direction, even further action must be taken to completely resolve a certain issue. I want to learn more about genes and heritability.