Most people travel to France for the culture – to be swept away by the raw excitement of Paris, inhale the heady scent of lavender blooming across the rolling hills of Provence, or savor that ancient salient of life known as wine. But Sean Santos ’13 is going for the bone cancer.
Santos was awarded a Summer Undergraduate Research Fellowship (SURF) to study with researcher David Cox ’98 at Inserm’s Cancer Research Center of Lyon. Established nearly fifty years ago under the auspices of the Ministry of Health and the Ministry of Higher Education and Research, Inserm is the sole French public research institution that combines the rigors of laboratory research and technical education in its devotion to human health. As a chercheur – or researcher – Cox’s specialties include genotyping and epidemiology. “My research focuses on the use of molecular genetic epidemiology techniques to explore the mechanisms of breast cancer development and progression,” he says about his work that spans a network of colleagues in the fields of research and education. Their shared data and equipment allows Cox to extrapolate findings and delve deeply into understanding the biological underpinnings of cancer. “By thoroughly exploiting the ensemble of these tools, I aim to further our understanding of the mechanisms behind breast cancer tumor development and progression, which will allow better methods of prevention, detection, and treatment,” he says. And it enables him to more clearly understand why and how other cancers develop, including the rare, aggressive bone cancer found in children called Ewing Sarcoma.
Cox’s focus on molecular genetic epidemiology continues to alter our understanding of the biological mechanisms at play in the progression of cancer. In the February 2012 issue of Nature Genetics, he and his colleagues published a paper that elucidates the development of Ewing Sarcoma from the first genome-wide study on this infrequent cancer. “Even though Ewing Sarcoma is a very rare disease – only three in 100,000 people have it – there are a hundred new cases in France each year. There is a group that has been working for over twenty years with patients,” says Cox about the researchers’ study of 600,000 genetic variations. “We identify two regions of the genome where we find variants that are more frequent among people who have the disease than those who don’t. Those new regions give us ideas about the biology behind the disease.”
And that is where Santos comes in. As a student mentee in Cox’s lab, Santos will search for DNA sequence variations found in patients with Ewing Sarcoma to determine whether and which genes may be contributing to the development of the tumor. “I will use a computer program called PLINK to analyze and apply statistic models to the data set and will use the research center’s data servers to navigate the data and search for SNPs [single-nucleotide polymorphism]. Once SNPs are found, I will look at nearby genes to determine significance,” says Santos. “Finding these nearby genes will improve prognosis by identifying individuals from the population that may be at risk for developing Ewing sarcoma.”
Santos, a resident of Newton, New Hampshire, was born and raised in the Granite State by parents who are both engineers. “They encouraged me to do well,” he says of his family who gave him free range to pursue the educational focus of his choice. After a few years of intense study in biology, organic chemistry, and microbiology at the College of Life Sciences and Agriculture (COLSA) at the University of New Hampshire (UNH), Santos says, “I knew I wanted to be involved in science and I’m really excited to be involved in cancer research.” As for this life-changing SURF award, Santos says, “I’m honored to be chosen by David. I think he chose me because of the research I want to do and what I plan to do with my education after graduation.”
And that is true.
Cox says, “I chose Sean because he expressed a clear interest in cancer genetics.” But the decision to mentor a UNH student was also influenced by his own experience with the University. As a high school student, Cox advanced easily through his AP classes, but never learned how to study effectively. When he became an undergraduate at COLSA, he relied on his advisor, Dr. Paul Tsang, for support through the transition. “Paul was a wonderful mentor and I probably wouldn’t have stayed in school without him,” says Cox who was so successful in acquiring skills for studying that he completed his core curriculum at a record rate. “In my junior and senior years I had lots of credits, so I gained hands-on experience in the lab. That lab experience helped me to transition directly into a Ph.D. program and enabled me to be autonomous in lab work in the future.”
The focus of Cox’s Ph.D. program was Human Genetics at the Universita degli Studi di Torino in Turin, Italy. During that time, he was also a graduate student at the International Agency for Research on Cancer in Lyon, France. Those experiences gave him his first taste of the ex-pat lifestyle and he became hooked. Ultimately, he returned to make France his permanent home, but first returned to the States to obtain a Master’s of Science in Epidemiology from the Harvard School of Public Health where he also worked as an instructor.
Now as a mentor to Santos, Cox says, “My main expectation is to give Sean the necessary skills to apply to whatever he chooses to go on to study, and show him how interesting and fun it can be to do these different experiments.” Cox, who would relish the opportunity to come back to UNH for a visit, says with a laugh, “I wish I had paid more attention in my original biostats class. I had no idea I’d be using that information as much as I am now.”
Santos has been preparing for his first trip abroad, in part, by having conversations with native speakers in an arrangement provided by the Hamel Center at UNH. Learning French will help Santos to “represent my country and University as respectfully as I can,” he says. In addition, Santos has the educational foundation to succeed in his mission at the lab with two semesters of biology, chemistry, and organic chemistry as well as one semester of genetics, statistics, and calculus. Santos says, “I’m excited to start working with David and his associates. They’ll help me figure out the statistical analyses I’ll be doing. With their guidance, I’ll be able to take away a practical application of some of the genetics I’ve learned about last semester.”
Santos knows the value of gaining experience working with the high-tech tools in the lab for both his involvement in Cox’s research and his future in the health sciences. “I’ll be able to contribute to this cancer research and, after the SURF abroad program, I’ll have the tools to work on other research studies in the future with less guidance.” But, it won’t be all work for this young researcher from New Hampshire. He has plans to visit the Louvre and may be swept away by some of that raw excitement of Paris after all.