Published July 6, 2018
Alison Treichel is the first Jacobs School of Medicine and Biomedical Sciences medical student to receive an award from the Doris Duke Charitable Foundation (DDCF) Clinical Research Mentorship program.
The program provides mentored, hands-on research opportunities with the aim of supporting the professional trajectories of medical students pursuing clinical research careers as physician-scientists.
Treichel, a native of Saratoga Springs, New York, will take a year out of medical school to participate in the full-time clinical research experience.
She previously took a year out of medical school to serve as a fellow in the Medical Research Scholars Program (MRSP) that places students in National Institutes of Health (NIH) laboratories and patient care areas to conduct basic, translational or clinical research in areas that match their career interests and goals.
“Alison’s selection as one of only seven 2018 Doris Duke Charitable Foundation Clinical Research Mentorship awardees places her in an elite group of medical students who will benefit from a 12-month mentored research training program with an accomplished physician-scientist,” says Michael E. Cain, MD, vice president for health sciences and dean of the medical school.
Timothy F. Murphy, MD, SUNY Distinguished Professor of medicine and senior associate dean for clinical and translational research, notes that Treichel’s accomplishments put her and the Jacobs School in rare company.
“Alison’s success in winning one of the seven coveted awards in 2018 places the Jacobs School of Medicine and Biomedical Sciences among the nation’s top institutions, including Stanford, Duke, Cornell and others,” he says. “The mentorship program is a premier training program for the next generation of physician-scientists.”
Treichel’s mentor in the MRSP is Joel Moss, MD, PhD, of the Pulmonary Branch of the National Heart, Lung and Blood Institute. Throughout this year, she also has been working closely with his collaborator, Thomas Darling, MD, PhD, chair of dermatology at the Uniformed Services University of the Health Sciences (USUHS).
Their research is focused on a genetic tumor syndrome called tuberous sclerosis complex (TSC) and the associated pulmonary disease lymphangioleiomyomatosis (LAM).
“What drew me to the labs of both Dr. Moss and Dr. Darling was their immediately evident passion for science and dedication to mentoring the next generation of physician-scientists,” Treichel says. “I found their research area to be fascinating and felt that we shared similar research interests.”
The DDCF has awarded Darling and Treichel funding for their research project titled “Genetic and Cutaneous Indicators of Disease Severity in Tuberous Sclerosis Complex.”
TSC affects approximately 1 in 6,000 people, with the majority of women with TSC developing LAM by the age of 40.
“People with TSC develop tumors in multiple organs. The tumors may grow slowly and cause few problems for many years, or they may progress rapidly with very serious implications for health,” Darling says.
“Because of this variability, it can be hard to know whether to watch and wait or to start treatment,” he adds. “We hope that our work will remove some of this uncertainty and provide us with genetic or cutaneous predictors of disease severity.”
Treichel notes the mutation that causes TSC affects the mTOR cell signaling pathway, leading to subsequent tumor growth in many organs of the body. The mTOR pathway is also implicated in many types of cancers such as breast, ovarian, prostate and melanoma.
“Therefore, our findings will not only expand upon the knowledge of the development of tumors in TSC and LAM, but it could also lead to new therapeutic targets for TSC-associated tumors and potentially other types of cancer,” she says.
Darling says TSC is a rare disease, but those with TSC cope with its effects throughout their lives, often requiring periodic imaging studies and other evaluations by a physician.
“By distinguishing those individuals who need frequent versus less frequent monitoring, we hope to lessen the burden of the disease on the lives of those affected while getting early treatment to those who need it the most,” he says.
LAM is a progressively destructive pulmonary disease characterized by infiltrating tumor cells that lead to cyst formation within the lungs. This often leads to complications such as pneumothorax and may ultimately result in the need for continuous oxygen supplementation or lung transplant.
“Currently, there is no way to predict which patients will go on to develop rapidly progressive LAM,” Treichel says. “Our goal is to identify novel genetic markers associated with rapidly progressive disease. This will help identify patients who need early initiation of treatment.”
Nearly all patients with TSC develop cutaneous lesions.
“One of the fascinating observations we have made is that the burden of skin disease in TSC appears to correlate with the severity of LAM,” Treichel says.
“This observation provides clinical utility because skin manifestations tend to appear decades before LAM,” she adds. “We plan to further define cutaneous phenotypes and genetic markers that are associated with an increased risk of developing severe LAM.”
Because the USUHS and NIH are in such close proximity, Treichel has had the unique opportunity to work in cutting-edge facilities at both locations.
The Clinical Center at the NIH is the nation’s largest hospital devoted entirely to research, and it is well-equipped for the study of rare diseases. In 2017, nearly 100,000 patients were evaluated in the facility, which consists of more than 5,000 rooms, 15 outpatient clinics and 200 inpatient beds.
Across the street at USUHS, The American Genome Center, through the Collaborative Health Initiative Research Program, is enabling the researchers to perform whole genome and transcriptome analyses that will ultimately help them identify novel biomarkers for TSC and LAM that correlate with disease severity.
“I have also been able to interact with dermatologists at the NIH and Walter Reed National Military Medical Center,” Treichel says.
“Through dermatology grand rounds at both institutions, I have been exposed to exceptionally rare dermatological diseases on a weekly basis.”
Darling says he is impressed with Treichel’s research skills and her commitment to her training.
“Alison shows great satisfaction when she makes a new discovery or publishes a paper. She has a strong desire to advance clinical care to help others. These are solid motivators to get her through the long hours of hard work,” he says. “She has a strong intellect and curiosity together with the persistence and attention to detail needed to be successful as a clinician-investigator.”
Darling adds that Treichel is “a great team player who is exceptional in analyzing large, complex data sets.”
“She is able to recognize patterns of disease expression that have implications for patient diagnosis and prognosis,” he says. “She translates these observations into graphical images that convey complex combinations of disease manifestations in a form that is readily understood.”
Treichel maintains her long-term goal of becoming a dermatologist with an academic focus, noting that some of the most interesting topics within dermatology are related to both cutaneous oncology and dermatoimmunology.
“I think what makes these fields most interesting is the complexity of diseases that fall into these categories and the emerging technologies that enable us to understand complex processes in the immune system as well as cancer,” she says.
“The current and future technological advances hold great promise for breakthroughs in these fields, and I hope to be a part of them.”
Treichel is grateful for her medical education training at UB, which she says has more than prepared her for the high expectations of scientists at the NIH.
“Not only is the Jacobs School faculty completely dedicated to their students’ success, but they also instilled confidence in my abilities and provided support that allowed me to strive for my highest goals,” she says.
Treichel credited Charles M. Severin, MD, PhD, for his pivotal role in helping her develop confidence in her ability to achieve her goals early on in her medical school career.
As the former associate dean for medical education and admissions, Severin oversaw the educational performance of first- and second-year medical students and monitored their research and clinical work.
“I remember Dr. Severin asking me: If I had made it this far, what made me think I couldn’t achieve whatever I set my mind to?” she says. “He told me I certainly wouldn’t accomplish my goals without trying.”
“From that moment forward, I decided to make my dream a reality.”
Treichel says another pillar of support she has received is from her fellow Jacobs School classmates.
“From my first day, their friendliness and helpful nature has made me feel like I have been part of a large UB family,” she says. “This UB family has extended to my time at the NIH as well.”
“I am lucky to have had the support of the previous UB students that participated in the MRSP. They encouraged me to apply to the MRSP and provided valuable advice along the way.”
Treichel is also grateful for her experience within the Jacobs School’s Department of Dermatology, which she says sparked her interest in academic dermatology.
Treichel says she feels incredibly honored to be selected for the DDCF Clinical Research Mentorship program.
“This is a really exciting time to be a part of the labs of Dr. Moss and Dr. Darling, and I am thrilled to have the opportunity to continue my research an additional year,” she says.
Established in 1996, the DDCF supports four national grant-making programs in the areas of performing arts, environmental conservation, medical research and child well-being.
DDCF’s activities are guided by the will of Doris Duke, a lifelong philanthropist who endowed the foundation with financial assets that totaled approximately $1.8 billion as of Dec. 31, 2017.