By Michael Henze (NHS ’15)
In the throws of midterm season, it usually takes me 20 extra minutes to muster the strength to leave the warm and comfort of my bed to face the day, but October 12, 2012 was different. Like most people my age, my main news outlet is my iPhone, and after reading a particular text message I leapt out of my sheets. One of my best friends here at Georgetown informed me that the Nobel Prize for Physiology or Medicine had been awarded to Dr. Shinya Yamanaka for his work in stem cell research.
The reason I was so elated to hear this news was because of what it meant for Whitney. “Whit” has an extraordinarily rare genetic disease called Fibrodysplasia Ossificans Progressiva (FOP). It’s safe to say Whit is one in a million but she is also one in two million diagnosed with this disease. In April 2006, UPenn researchers Eileen M. Shore, PhD, and Frederick S. Kaplan, MD discovered the ACVR1 gene, which is responsible for causing FOP . ACVR1 is responsible for the synthesis of bone morphogenic protein (BMP), a receptor found on the surface of connective tissues. This receptor controls the growth of bone . FOP is most likely caused by a mutation of this gene that changes the shape of the BMP receptor, which leads to constitutive activation of the BMP receptors. So in lay terms, the cell receptor responsible for bone growth is constantly “switched on.” The symptomatic manifestations of this single mutation are most shocking. Bones form in all of the connective tissues of the body (muscles, ligaments, tendons) forming a vast network of heterotopic bone in all parts of the body. Traditionally this disease was referred to “Stone Man” syndrome, as patients seemingly turned to stone. Eventually the extra bone inhibits movement in FOP patients .
FOP is congenital and the only sign at birth is a deformed big toe. The symptoms of the disease usually become apparent at some point during childhood. Any bump, break, or bruise can cause a “flare-up.” These traumas cause inflammation, believed to accelerate extraneous bone formation . Over time the networks of bone grow to crippling levels, devastating the patient’s body.
The Nobel Prizewinning work of Dr. Yamanaka could be the next breakthrough in FOP research since the discovery of the ACVR1 gene and its relation to the disease. In Yamanaka’s experiment he and his team extracted skin cells from a rat with sickle cell anemia. Yamanaka then injected a virus with a cocktail of 4 genes that composed the reprogramming agent. The virus was then inserted into the skin cells and incubated in a Petri dish. Over time the skin cells were transformed into induced pluripotent cells (IPS) meaning manmade cells that possessed the characteristics of stem cells. The cells were then differentiated into blood cells without the disease causing mutation. When the healthy blood cells were injected back into the rat, it was cured .
This scientific accomplishment is revolutionary on several levels. When people hear the term “stem cells” they immediately associate it with controversy, ethics, and religious backlash. This stigma should only be associated with embryonic stem cell research as this method destroys the viable blastula. IPS cell technology essentially eliminates the debate because IPS cells are directly generated from ones own living tissue. Secondly, IPS cells could be the future of medicine, specifically in the treatment of FOP. Doctors Kaplan and Shore state that Yamanaka’s research has shed some light on the origins and the pathophysiology of FOP, and are optimistic in its application to future treatment of the disease . The technology however has not yet been perfected. Transitioning the process from mice to humans is not an easy one, and scientists are looking to overcome the many limitations of their methods before using IPS cells in medical therapies . Researchers comment on the low efficiency of the production of iPS cells as only one in every several thousand differentiated cells are transformed successfully at a time. Researchers like Yamanaka agree that there is much to be worked out, but the future looks bright for this technology.
When I arrived at Georgetown, I immediately noticed Whitney’s presence. Living across the hall from her, I could not avoid her vibrant wardrobe and boisterous personality. I can’t say we clicked immediately, but over the course of the semester Whitney and I, along with the rest of our floormates, formed a bond that transcended friendship. We were a family. As Whitney and I spent more time together I realized the little things that she couldn’t do because of her FOP. Obviously she couldn’t climb stairs, but furthermore she couldn’t push the button to open the doors to elevators. I think it is the culmination of simple hindrances that makes her disability especially devastating, but as her friends, we are there for her to grab her venti iced latte off the counter at Starbucks. Though there are certain limitations that are inevitable with her condition, she doesn’t let them define her. Instead, Whitney fights daily to lead a normal college life, and she does so admirably. Whit not only challenges herself in the classroom, but she may be one of the most well known people on campus. It is impossible to walk with Whitey without her stopping to chat with one of her friends.
College students at an elite institution such as Georgetown are quick to debate politics. Stem cell research and mandates for handicap accessibility are two hot topics of debate. Raised as a Catholic, I was constantly fed anti-stem cell rhetoric, but rejected them considering myself a believer in the power of science. While I understand peoples’ ideological and religious oppositions to stem cell research and manipulation, I wonder how many of them actually know and love someone who could benefit from their use. My views in support of stem cell research were fully solidified as a result of my relationship with Whitney, as I see how the work of Dr. Yamanaka may alleviate the effects of her disease. So I would strongly advocate for continued support of Yamanaka’s research, as I believe regenerative medicine could have tremendous effects on the treatment of a wide variety of diseases. Luckily the publicity associated with winning a Nobel prize will bring attention to Yamanaka and encourage more doctors and researchers to further develop iPS cell technology. In conjunction with this interest by the scientific community, I hope that the philanthropic community will embrace this technology to provide the funding to accelerate stem cell research.
Furthermore, my relationship with Whit has made me aware of a political issue. Georgetown University receives federal funds to carry out business as usual. To receive this aid, the university must agree to fulfill certain mandates such as handicap accessibility. Although for the most part Georgetown accommodates Whitney, there are still many limitations in access that the university overlooks. For example, Whitney is given a remote that is supposed to automatically open the doors to all academic and social buildings but the automatic doors themselves do not function correctly. There is an elevator to access the Leavy Student Center, but because of Whitney’s FOP she is unable to push the button, so essentially that entire building is off limits to her. Certain dorms such as Alumni Square, Henle Village and Village A are partly or completely inaccessible, which impedes the social interactions of handicapped students. While the University claims to be “handicap accessible,” there should be a thorough assessment of each point of access and necessary repairs of defunct mechanisms so that they execute the stipulations of their federal aid.
 “Penn Researchers Discover Gene That Creates Second Skeleton.” UPHS News. Penn Medicine, 23 Apr. 2006. Web. 28 Oct. 2012. <http://www.uphs.upenn.edu/news/news_releases/apr06/FOP.htm>.
“ACVR1.” Genetic Home Reference. U.S. National Library of Medicine, 23 Oct. 2012. Web. 28 Oct. 2012. <http://ghr.nlm.nih.gov/gene/ACVR1>.
 FOP Fact Sheet.” IFOPA, n.d. Web. 28 Oct. 2012. <http://www.ifopa.org/en/fop-fact-sheet.html>.
 Kaplan, Frederick, MD, and Eileen Shore, MD. “Nobel Prize for Cloning and Stem Cell Discoveries Attract Attention of FOP Community.” Nobel Prize for Cloning and Stem Cell Discoveries Attract Attention of FOP Community. N.p., 12 Oct. 2012. Web. 28 Oct. 2012. <http://www.ifopa.org/en/news-and-events/latest-news1/363-nobel-prize-for-cloning-and-stem-cell-discoveries-attract-attention-of-fop-community.html>.