The ultimate goal for any college student is to find a job after they graduate. Putting aside the many obstacles, if given the choice to choose a career of their choosing, most students would pick a field in which they have a deep passion and desire for. This specific passion commonly comes from a very important series of experiences that are crucial in shaping one’s interest. For example, many doctors may have had a parent that were physician themselves, or perhaps were personally affected by an illness, and were inspired by the care they received. It is very common to have similar sorts of life changing event or events that inspire individuals to pursue a specific field. Today we focus on a neuroscientist, Dr. Jon Pierce-Shimomura, who was motivated to study Down syndrome after his son was diagnosed with the disorder.
Dr. Jon Pierce-Shimomura is currently an Assistant Professor in Neurobiology studying the genetic basis for many different behaviors and disorders, including alcoholism, Alzheimer’s, Parkinson’s disease, and Down syndrome in C. elegans. Dr. Pierce-Shimomura was attracted by the C. elegans because “it is the only animal that can be studied at the level of each of its parts: genes, cells, and neural connections,” and studies of these genes or neurons can indicate the roles of similar orthologs in our own nervous system. Initially, Dr. Pierce-Shimomura was studying alcoholism in worms, but in 2001 his life changed forever. With the birth of his first son, Ocean, Dr. Pierce-Shimomura soon learned that Ocean was diagnosed with Down syndrome.
With the large wave emotions that came with the news of learning of Ocean’s diagnosis, Dr. Pierce-Shimomura became motivated to know about the progress being made in Down syndrome research. He was therefore astonished when he learned about the lack of work in this field and stated, “There were only about 9 well known Down syndrome research going on.” Even though Down syndrome is the “leading cause of mental retardation and cardiac defects,” the level of research, or the lack thereof, towards the condition was additional motivation for Dr. Pierce-Shimomura to study it himself.
In 2008, Dr. Pierce-Shimomura was hired by the University of Texas to study alcoholism in C. elegans, but he assigned one of his graduate students to work on studying Down syndrome in the worms. The C. elegans was an ideal model organism to study because it shares many genes that are found on chromosome 21. Furthermore, while other animals such as mice are harder to mutate, C. elegans are “very easy to become transgenic and study the genes involved in Down syndrome.” In fact using transgenic mice, the app gene was found on Chromosome 21 to be involved in neuron degeneration and causing Alzheimer’s. Using this discovery other genes have been discovered, and have facilitated pharmacology research to produce more effective drugs. Through the use of C.elegans, Dr. Pierce-Shimomura believes such progress can made quicker and is very optimistic for the future of Down syndrome research.
As the optimism for Down syndrome remains strong, Dr. Pierce-Shimomura still struggles knowing that he “can’t speed up the progress” for Ocean. One of the highs of being a neuroscientist are the moments that there discoveries are used to further propel more scientific discoveries, and perhaps used as a template to facilitate novel medical research. Although very hopeful for the future of Down syndrome Dr. Pierce-Shimomura knows that making scientific discovery is no quick task. “Making discoveries and having them being used in clinical care is a very slow process taking many years and decades, but my son only has about thirty years.” Adding to the battle against time, Down syndrome research is “very apathetic,” and “very little funding is provided towards the research.”
Furthermore, the knowledge toward Down syndrome is extremely skewed. Little do people know that individuals with Down syndrome are quite intelligent! It’s quite common for society to link the speaking ability of Down syndrome patients with their intelligence. On the contrary, lack of muscle tone makes it difficult for Down syndrome patients to speak and talk, but many are very smart. It is also little known that Down syndrome patients don’t “suffer disease like heart attacks or get cancer.”
The future of Down syndrome has both its pros and cons. The lack of funding and research hinders much progress being made to help kids like Ocean fight Down syndrome. Nevertheless, the development of cutting edge technology in neuroscience research such as imaging optigenetics will help further understand the genetic basis behind Down syndrome.
Dr. Pierce-Shimomura had a high passion for neuroscience and understanding the source for key behaviors and diseases; Ocean’s condition only furthered his motivation. The future of Down syndrome looks very promising with individuals like Dr. Pierce-Shimomura inspired to make a difference. Let’s hope that all college students will have such an effect and passion once they find their ideal career. Who knows; maybe one of them will find a cure for Down syndrome.