Genetic Testing – Fatal Familial insomnia

What do we think of when we think about rare diseases? Well first of all, they’re rare: no one around me has it, my parents don’t have it, chances are, I won’t get it, nor will my children get it. Which means I don’t have to worry about getting it myself then, right?

Well let’s consider this disease: Fatal Familial Insomnia (FFI). FFI is the rarest known prion disease today – only 25 families are known to have it (2). The symptoms of the disease are initially mild – usually just an inability to sleep. As time progresses, however, there will be significant mental deterioration: dementia, problems with cognition and thought, and “dysfunction of the autonomic nervous system” (5). This impacts the human body’s ability to maintain body temperature, heart rate, and blood pressure (5). This mental deterioration continues for about a year or so until “the disease ultimately progresses to coma and death” (5).

But even as horrifying as that seems, as long as we aren’t one of the 25 families, we don’t have to worry about the disease, right? Unfortunately, it doesn’t seem completely so – in 2004, doctors studied the case of a man with the disease who was of Chinese descent – the first case of FFI ever in the Chinese population (9). This means that the disease can still occur anywhere. But ultimately, so little is known about it that scientists are struggling to find a complete explanation – and indeed, a cure – for this rare disease. Even if you don’t think you have it, getting tested for the FFI gene can provide scientists with the information they need to find the origin of the disease, and how to treat and cure it.

So what is the disease?

FFI is known as a Prion disease. These kinds of diseases occur when the PRNP gene, a gene which controls the creation of prion protein, has a mutation (5). This mutation causes the gene to create misfolded prion protein – these prion proteins are toxic and will build up in the brain, destroying important nerve cells, leading to the symptoms of the disease (5).

So far, the mutations is the genes are from SNP’s, where one small segment of the DNA is switched. D178N is a SNP for residue 178 in the PRNP gene (8). Another SNP is the M129V SNP, also in the PRNP gene (6). The last SNP is the E200K mutation, which is a common prion disease mutation (7). It’s very possible for the change in the PRNP gene, which directly creates the prion protein, to affect the prion’s shape – other prion related diseases stem from these mutations too (6).

Once someone has the disease, the disease itself is autosomal-dominant (5). That means if a parent has it, there is at least a 50% chance of the children having it too. In the case of the Canadian family mentioned before, the disease traced through the family, like the patient’s aunt (9). Since many of the patients who had the disease didn’t start showing symptoms until later in life, such as the aunt in her late 40’s (9), it is highly possible for someone who has the disease to pass it to their children.

So how can we test for it?

The best way to test for this disease would be to use traditional DNA sequencing. There is only one single gene to look at, and only at three points. All of them are SNPs, so it would be easy to know what to look for. For the three locations, the cost would be low, since there are so few of them. These mutations have a strong correlation with people who have the disease, such as D178N with a magnitude of 6.5 (8).

Unfortunately, getting the test may not be enough to prove if you have the disease or not. Because of it’s rarity, many of the mutations that can occur that will cause this disease, may not be known yet (5). It is still entirely possible to get this disease through some other mutation – take Sporadic Fatal Insomnia: this disease is the exact same as FFI, except it’s cases are completely random (4). So, even though the known SNP’s provide definitive proof of having the disease or not, the probability of having the disease is still not 0. In the end, it may be in the best interest of people, who have a family history of diseases with anything resembling the symptoms of FFI, to get tested for the disease. Even if they don’t think they have the disease, they may be some of the people with the closest connections to this disease.

What happens when I get tested?

With the rarity of the disease, most likely nothing. People who test negative for this disease will almost certainly never get it. But when they do test positive for it, it would be a horrible moment. Currently, there is no treatment for FFI; there have been so few cases, that researchers could not create a definitive treatment for it (5). Even if someone knows they have FFI, there is no definitive way to get rid of it. Once someone gets the disease, they may no longer want to keep it to themselves – the best hope to get it cured or treated would be to contact researchers for help.

If you do test positive, contact your doctor to let them know. They should know about your current condition, and if any medications you may have taken (5). If you have medication that makes any of the symptoms worse, you should stop taking them and ask your doctor if there are any alternatives (5). It is also possible to get scans done of your brain for activity, which can be especially helpful in determining where and what may be causing the symptoms (5). If you are interested in getting tested for this, ask yourself these questions: Do I have problems falling asleep? Am I experiencing forgetfulness? Do I have problems paying attention? Am I loosing weight faster than I expected? Does anyone in my family have these symptoms (5)?

Because of the lack of information about the disease, not many people know about it. However, if more people were to go and test for it, they may be able to help change that. Sonia and Eric have worked together to find a solution to the FFI disease after events in their life prompted them to do so (3). Testing for the gene doesn’t cost much, but its value is incredible for researchers. So even if it is highly unlikely for you to get this disease, just a little bit of time and money spent to get tested for this disease will help researchers save the lives of others.

Works Cited

1. Creutzfeldt-Jakob Disease Foundation, Inc. (n.d.). About CJD and Prion Disease. Retrieved from: https://cjdfoundation.org/about-cjd

2. Creutzfeldt-Jakob Disease Foundation, Inc. (n.d.). Fatal Familial Insomnia (FFI). Retrieved from: https://cjdfoundation.org/fatal-familial-insomnia-ffi

3. Creutzfeldt-Jakob Disease Foundation, Inc. (n.d.). Sonia & Eric’s Story. Retrieved from: https://cjdfoundation.org/sonia-and-erics-story

4. Medori, R., at el. (1992, February 13). Fatal Familial Insomnia, a Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene. Retrieved from: https://www.nejm.org/doi/full/10.1056/NEJM199202133260704

5. National Organization for Rare Disorders. (2018). Fatal Familial Insomnia. Retrieved from: https://rarediseases.org/rare-diseases/fatal-familial-insomnia/

6. SNPedia. (2018, January 6). rs1799990. Retrieved from: https://www.snpedia.com/index.php/Rs1799990

7. SNPedia. (2018, January 6). rs28933385. Retrieved from: https://www.snpedia.com/index.php/Rs28933385

8. SNPedia. (2019, January 18). rs74315403. Retrieved from: https://www.snpedia.com/index.php/Rs74315403

9. Spacey, S.D., Pastore, M., McGillivray, B., Fleming, J., Gambetti, P., & Howard, F. (2004, January). Fatal Familial Insomnia: The First Account in a Family of Chinese Descent. Retrieved from: https://jamanetwork.com/journals/jamaneurology/fullarticle/785214

Rivers Alive – Toby Fu

What we did:

About one and a half weeks ago, I participated in the Rivers Alive program at the MLK Greenway site. I choose to go there directly and did not attend the 8:00 am opening at Sandy Creek Nature Center. There were a lot of people there – some were from UGA (one specific group I talked to a lot was a grad English program group), and some were from a high school. There were also some who were just locals and wanted to contribute.

Our role in this cleanup was to go along the roadsides and pick up garbage. It was pretty hard work, especially since some of the metallic garbage, tires, and beds were buried deep behind dirt or carpets. It may be hard to see in the photo, but the photo is of a piece of carpet that’s been lying on the ground so long, a sizable bush had grown out of it, it’s roots weaved around the carpets fibers.

It was cool going around and meeting the other people who were also cleaning up. We chatted while we tore carpet off the mound by the road, and remarked about the various antique garbage we found. We went to two primary locations: by the road, and behind a house. We picked around the area, rolling down massive tires, pulling out bed springs, and lugging down rubber hoses. Someone even found a bike. Around 11:30, we were all extremely tired, and we got together and called it a day.

How I feel:

I was extremely surprised by the amount of trash collected by the side of the road. In the early few minutes, I was actually quite amused with the different kinds of unexpected garbage laying around. As I continued picking, the amusement faded, replaced with a feeling of sadness and disappointment. Then, somewhat frustration. A lot of the garbage by the road was covered with carpet. That means whoever threw all that away, as well as subsequent times the garbage was seen, they just decided to cover it away, instead of picking it up and disposing of it. It was things like bottles and cans, but then it turning to metal pipes, tires, and even cinder blocks. Some metals were stuck so far in the ground, we couldn’t even manage to get it out, and some of the cans and bottles look like they were from the 50’s.

Something that stood out to me while I was there was when someone held up a Styrofoam egg carton. It looked like it was probably only months old, but it was laying under garbage that (from it’s labels) where probably from the late 70’s/early 80’s. After all that time, the Styrofoam has barely degraded at all. I was frustrated that people from before decided to just dump their garbage wherever they wanted. I was disappointed that people just thought it was okay to do this. I was sad that some of this garbage had been here for so long, and by the way things looked when we finished, there are probably still mounds of garbage buried beside – and maybe even under – the road.

So What?:

My experience from volunteering that day really changed my attitude towards cleaning my environment. I never really cared about it before, and had always thought the area around me was clean. It wasn’t until I dug a seemingly bottomless pit of garbage from the ground that I realized the damages littering and waste has done to the environment. My experience from that day had greatly changed my outlook towards cleaning the environment. Before, I was less inclined to do anything, and thought everything was going to be okay. Now, I am much more motivated to help the environment.

Now What?:

I plan on volunteering more to clean up the environment – not just here at Athens, but also in my hometown. I want to contribute more to improving the health of the town’s ecosystem, and clean it up to be better. While cleaning the environment is not a very big part of my major or many of the potential career paths associated with the major, I still plan to take time to help clean the environment by volunteering.

Simulation Reflection – Toby Fu

During this exercise I was part of the European Union group.

When I played my role in the policy exercise, I did not feel necessarily restricted by the group (nations’) background. Although during the exercise the EU made many large contributions, they were all based somewhat on reality. For example, some European countries had up to 4.5% reductions. Policy making in terms of negotiations was more challenging, and we did not always end up with what we wanted out of the deal, despite still handing over our resources.

As negotiations progressed, I felt that despite people’s initial hesitance towards contributing to the cause, when they realized just how much progress still had to be made, countries that did were not interested before suddenly increased their contribution, in hopes that we could actually achieve our goal. Even though we (the EU group) already donated a lot of money into the cause, we put even more in later in the rounds.

The EU group already started with a lot invested into the program, and the only change we had was donating even more money to the cause, as well as having more of our group monitoring those that needed our money.

We realized we all had to put in more money, when it turns out other groups needed more money than we would have expected.

In the end, I think the only way emissions can be cut is if we, as people of earth and not of nations, realized that no one would be happy if the earth catches on fire. We would all have to set aside differences and put our efforts into saving the world we live in, most importantly making it a higher priority than it is for many nations right now.

Many countries that still were developing could not bear the price of cutting emissions early, since they would not be able to progress. Even the best they could do to delay and cut emissions would be paid for at a high cost. Ultimately, it was the act of cutting emissions that was the most important to reaching our goal.

The best way to catalyze change really is to spread the information outward, as well as give genuine examples of how change would affect us. Without even knowing how it affects us, people may not be interested in saving our environment.

Toby Fu Watershed Reflection

In this picture, I see a large culvert where the river flows through. On the edges toward me and across me was massive erosion of the banks.
It really struck me how the erosion scarred the landscape. There were exposed roots from the trees and bushes. The large culvert also surprised me, the structure clearly man-made in an otherwise natural environment.
This picture made me feel that some of the water branches have been designed poorly. I had walked past this area before during heavy raining and noticed some incredibly powerful torrents flowing through there. On another occasion, I noticed a huge area of earth had crumbled down into the water. I feel that people walking past this would also be shocked at how the land just gave into the water. It just wouldn’t appear like a clean water branch.
When I look at the image, it makes me feel uncomfortable. To me, the edges of the bank shouldn’t be so eroded. The large culvert also does not look good in it’s surrounding.
I think this picture is about problems with the erosion of the landscape, with how the branches of water currently flow on campus.

Toby Fu

I have some experience in taking science classes. I’ve taken Biology in high school freshman year, Chemistry sophomore year, and Physics junior and senior year. Even though I took two years of Physics, I enjoyed Biology the most. I thought it ways more interesting, and it was more engaging for me than either Chemistry or Physics.

I would like to learn more about our waterways, and the steps we can take to protect and clean them.

I am most interested in the tailgate clean-up project. I like that for the project we would be taking an active role in cleaning the campus. I think everyone else would also like to help clean up campus after game days.

I would feel like I took part in improving the environment for the city. It would be a very valuable experience.

In general I would like to learn more about how to properly clean the environment without harming the environment.