“Developing Health Networks in Rare and Neglected Diseases”


Many people came together to develop this class. Kasturi Haldar, Ph.D. (Director, Center for Rare and Neglected Diseases at the University of Notre Dame) collaborated with Forbes Dennis Porter, Ph.D. and Nicole Yanjanin, RN) (both at the Eunice Kennedy Shriver National Institute of Child Health and Human Development). The Center for Social Concerns at the University of Notre Dame, Riley Children’s Hospital, the National Niemann Pick Disease Foundation, the Ara Parseghian Medical Research Foundation and the Niemann-Pick Disease Group (UK) all provided initial consultations.

The first class was an experiment to test whether undergraduate and graduate students, who are non-clinical practitioners, could be trained over a few weeks to recognize clinical disease and extract clinical severity scores from patient records. The clinical severity scale developed at the National Institutes of Health (and described in “Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C,” by Yanjanin et al. (2010)) was adopted as the model scale. In Spring 2009 2 graduate and 3 science undergrad students enrolled in the inaugural class and met for 3 straight hours on Friday afternoons. Registration for the class required the instructor’s permission, and none of the students in the class indicated prior experience analyzing medical records or performing clinical research. Coursework included researching multiple Niemann Pick Type C family narratives using the internet, understanding the socioeconomic and cultural impact of a rare disease, reading clinical research papers, engaging clinical practitioners, and understanding clinical symptoms of Niemann Pick Type C. Students assessed one clinical record that had been previously assessed by experienced clinicians. Students learned what information is important to extract by assessing in class one clinical visit from the record. Students assessed the remainder of the medical record as out of class work.

What We’ve Learned to Date

With each class, both the number of students enrolled and the number of medical records assessed increases. In the Fall 2009 and Spring 2010 classes, sixteen students registered, and they assessed four clinical histories. Nurse practitioner Nicole Yanjanin and physician-scientist Forbes D. Porter from the NIH, the clinicians who initially developed the severity scale used by students for assessments, evaluated and confirmed all student work. For the Spring 2011 class, 30 students enrolled and assessed 8 clinical histories in groups of five. This class reviewed a case which had been directly donated and not previously assessed by Yanjanin and Porter. 64 students have matriculated, and many have gone on to pursue advanced degrees in Medicine and Public Health. This class is now offered every Spring.

In the Fall, we have developed a second class, where projects for the class have focused on reaching out to rare disease families directly. Working in pairs, students talk directly with families to receive and process medical records. They make records electronic, assess the history, and create short clinical summaries for the family, who is supplied with both an electronic form of the record and the clinical summary.

By developing a relationship with the families the students are able to better understand the medical records and characterize disease progression. The Fall 2011 class has been instrumental in further INFORMING of tomorrow’s clinicians, as it requires an even more active participation model of education in order to benefit from the experience.