Student Testimonials

Lindsey Zehr

Internship Title: Idiopathic Pulmonary Fibrosis (IPF): A comprehensive evaluation of disease pathophysiology, biomedical research, and clinical observation

Internship Mentor: R. Matthew Kottmann, MD, University of Rochester

Summary: Idiopathic pulmonary fibrosis (IPF) is a progressive scarring disorder of the lungs that is characterized by the proliferation of interstitial fibroblasts and deposition of extracellular matrix. IPF is a serious and ultimately fatal disease with most patients living only 3-5 years after their diagnosis. The pathogenesis of IPF is variable and depends on certain individual factors such as genetic predisposition and environmental exposures. However, certain molecular drivers have been identified in disease pathogenesis. At this time there are limited therapeutic agents available for treating this devastating disease and there is no cure. This internship took place under the guidance of Dr. Kottmann, a pulmonologist and researcher at the University of Rochester. Dr. Kottmann is currently investigating the molecular mechanisms involved in the activation of the TGF-β (transforming growth factor) pathway. TGF-β is a cytokine responsible for inducing the differentiation of fibroblasts to myofibroblasts, scar forming cells that are responsible for the generation of extracellular matrix. Myofibroblasts are considered to be an important determinant in the etiology of fibrosis and inhibiting myofibroblast differentiation has become an important target for therapy. In order to better understand this process we collected biological samples from study participants as part of an observational study. These samples are currently undergoing metabolomic analysis. By defining the metabolic profile of IPF we can postulate which pathways may be dysregulated and are thus contributing to disease progression. The data generated from this will present novel opportunities for pharmaceutical therapy that can increase the life expectancy of patients with IPF and ultimately lead to a cure. I also participated in in vitro laboratory research investigating protein expression of pro-fibrotic lung tissue and observed IPF clinic patient visits at the U of R as part of a clinical shadowing component. This internship allowed me to experience how biomedical research and observational studies are conducted in a fast-paced, dynamic medical setting.

Marcy Mullen

Internship Title: Newborn Screening Quality Improvement: Case Management and Hospital Education - Phase V

Internship Mentors: Kathleen Fiato, Beth Vogel and Joseph Orsini

Summary: My summer internship took place within the Department of Health- Newborn Screening Follow-Up Unit which is housed in the Biggs Laboratory within the Wadsworth Center at the Empire State Plaza and my goal was to improve the quality of the newborn screens that are received by the laboratory. As of August 20th, the Newborn Screening Lab had received 158,354 specimens for screening, but 3,952 (2.5%) of which were unsuitable for testing, primarily due to poor collection technique. My role was to identify hospitals with a high number of unsuitable specimens and work with them to provide additional resources and address educational concerns in order to help them improve their rates. My focus involved direct, daily communication with several of these target hospitals by providing early notification of an unsuitable specimen, information regarding the error rate of a specific specimen collector, photographs of unsuitable specimens, or any further assistance or educational resources that they requested.

The primary issue with an unsuitable specimen is that by the time it is collected, dried, mailed (overnight), received by the lab and analyzed for validity, the turnaround time is 2-3 days. With the exception of those babies admitted to the NICU, most infants are discharged within 2-3 days of birth and thus, no longer available for an immediate repeat collection. It then becomes the birth hospital or attendant’s legal responsibility to contact the parent and have her/him bring the baby to their pediatrician, or the hospital, to be retested. Although the majority of initial unsuitable specimens are resubmitted successfully, many are invalid a second or subsequent time or the infant is lost to follow-up after discharge. The easiest and most efficient way to avoid having to deal with the issues surrounding an unsuitable specimen is to ensure the validity of the initial sample.

In addition, my responsibilities included working with the other members of the follow-up unit by performing individual case reviews and assessments, reporting and documenting communication with hospitals and pediatrician offices, providing outreach and education for newborn coordinators and working cooperatively to help resolve collection and unsuitability issues.