Objective: Our objective with this project is to bring awareness to a rare genetic disorder called Stoneman Syndrome and to other disorders that develop from genetic mutations. We would like to bring light to what genetic mutations are and how there are technologies currently in development to help prevent these mutations from happening. Not many people even know what things like gene therapy are and how it is currently being tested to fix faulty genes and help people with genetic mutations live longer. Stoneman Syndrome is one of the many other disorders that could be cured by these sorts of new treatments. So we hope that you learn at least something new or interesting about these types of new treatments. 

In this project/presentation, you will learn: 

-  what Stoneman Syndrome is.

-  what Genetic Mutations are.

-  about newly developed technologies to combat these mutations .

- why this matters and how you can help. 

What is Stoneman Syndrome? 

 Stoneman Syndrome or FOP (Fibrodysplasia Ossificans Progressiva) is a disorder that causes your body to not know when to stop growing bone. The cause of Stoneman Syndrome was discovered in 2006. What happens is the ACVR1 gene that gives instructions to BMPs (Bone morphogenetic proteins) mutates and causes this protein to activate at times when it usually shouldn't. Typically, as you grow your muscles and tissue go through ossification and turn into bone. Normally your body would know when this process should end, but when you have Stoneman Syndrome this process doesn't stop and you grow a sort of second skeleton over time (also called Heterotopic ossification). External injuries can also cause this process to happen more excessively, leading to the person "turning into stone" far quicker. 

 Stoneman syndrome was discovered in 1692 by Gut Patin in a boy who was around 7 years old. Since then, there have only been a total of over 800 cases worldwide affecting only 1 in 200 million people. The life expectancy of someone with Stoneman syndrome is only around 40 years old, expecting to be bedridden by 20. At some point, the person will have to decide if they would like to be completely still standing up or sitting down. 

What are the symptoms?

 Symptoms of Stoneman syndrome can be seen at a very young age. Signs being very very large and abnormally shaped big toes, bones starting to be seen from under the skin on the back, and lumps appearing under the skin.  

Is there a cure?

 Currently, there are no legitimate cures for Stoneman Syndrome. However, research regarding a cure for it is being tested. Researchers have been studying potential cures such as a drug called palovarotene. It is a drug that has been tested on rats that have reduced the process of abnormal bone development, providing a potential future cure for Stoneman Syndrome. 

What are Genetic Mutations/Disorders?

 Genetic mutations are when your DNA is sequenced incorrectly, causing it to give the wrong instructions to your body. Some of the Genetic disorders caused by these mutations are Turner syndrome, down syndrome, and  Alzheimer’s. Since Stoneman Snydrome is also a genetic disorder, we think that the two should go together in our project. Alongside talking about Stoneman Syndrome we want to raise awareness for the effects that genetic mutations have on people in our world. Sometimes, genetic mutations can be very small. Almost undetectable. But other times it can increase the rates of getting cancer greatly, and decrease the immunity of some individuals. Unfortunately, these things do happen in our world and we rarely notice them. That's why we belive that its important to raise awareness about thing topic. 

 As mentioned earlier, genetic mutations can sometimes increase the risk of getting cancer drastically or even deteriorate someone's immunity. But now with newly developed technologies, you can even do things like gene therapy. Gene therapy is the process of correcting dysfunctional cells and introducing the body to proper cells that correct the mistakes made by the mutation. There are also tests that can be done to check which types of diseases or illnesses you are more prone to. These sorts of therapies have been clinically tested many times and have proven to work well. The only issue is that they are very costly. 

 Regarding Stoneman syndrome, there are yet to be any clinical tests of a cure for humans so unfortunately, we cannot fill in any data about it yet. Although the cure on rats was very effective and might soon be clinically tested on humans in the near future.

Conclusion:

 In conclusion, we think that research on genetic mutation should be supported and more known. For example, if more awareness was raised there could be a potential cure for genetic disorders like Turner syndrome, Down syndrome, and of course Stoneman Syndrome. Being able to find cures and develop treatments for issues like these would be very impactful for all these people. Because most people don't believe these disorders could be treated not many people are aware that these sorts of treatments are being tested for and are under development. Not many people even know of things like gene therapy at all so people who do have problems or mutations might not ever know that things like this exist so they might not live for as long as they could when receiving treatment. To live a full life, or for parents to see their children grow, things like these could seriously help people. Our project was to bright light to these treatments and disorders so people can be more educated and even find help for themselves. 

https://www.youtube.com/watch?v=Iu5FXQuTevQ&t=152s 

https://www.youtube.com/watch?v=yNfI81Am8YM 

https://www.researchgate.net/publication/336932487_ACVR1_Function_in_Health_and_Disease 

https://www.acrobiosystems.com/A1555-CGT-solution.html?msclkid=8818af1ce153100b027ec8c7a2ed292d&utm_source=bing&utm_medium=cpc&utm_campaign=CATEGORY.-CGT-Bing&utm_term=Cell%20and%20Gene%20Therapy&utm_content=CGT 

https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/morphogen#:~:text=An%20important%20class%20of%20soluble%20molecules%20involved%20in,to%20control%20cell%20behaviors%20in%20the%20local%20microenvironment. 

https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/ 

https://www.youtube.com/watch?v=nJHatqLcK-8 

https://pmc.ncbi.nlm.nih.gov/articles/PMC6533435/

Rare Disorder Turns People’s Bodies to Bone

What Is Stone Man Syndrome?

https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/

https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/fibrodysplasia-ossificans-progressiva-fop#:~:text=Fibrodysplasia%20ossificans%20progressiva%20(FOP)%20is,bone%2C%20which%20makes%20movement%20impossible.

https://sketchfab.com/3d-models/skeleton-7d74935d926d4987a1b57817b3b15298

https://geneticsupportfoundation.org/ 

https://www.wegene.com/en/  

We would like to thank our friends and family who were very supportive of us and helpful. This whole project for us was something we wanted to do for fun and we did have fun. In the future, we would like to participate again since we had a great time researching our topic. We hope to do a better job in the years to come and wish the best for our friends aswell.