Here at the Center students assess Rare Disease Patient medical records to identify pertinent symptoms of the disease. Records are summarized into concise 2-3 page Clinical Summaries that are used by patient families for future physician visits. It provides a detailed history that includes past office visits, hospitalizations, tests, procedures and treatments. Take a look at the students working with the Center below...
Gabrielle O’Dougherty is a Senior undergraduate at the Boler-Parseghian Center for Rare and Neglected Diseases. She is currently conducting clinical research on Shprinzten- Goldberg Syndrome. This involves developing a natural history of the disease by delineating the disease progression over time and comparing various patients. She is currently working with a patient family and their medical professionals on creating a case report that will bring attention to newfound unique risks and symptoms in Sphrintzen-Goldberg Syndrome. She has done similar work with Nieman Pick Type C and Nonketotic Hyperglycinemia.
Lucie Ly is a rising senior at the University of Notre Dame. See what Lucie is working on currently below...
'Here at the Center, I am working towards a better understanding of the natural history of Neurofibromatosis Type-1 (NF1), a rare genetic disease that causes tumors to form in the brain, spinal cord, and nerves. Primarily, I've been going through the medical records of NF1 patients and making clinical summaries of the development of the disease, which will contribute to an educational database of rare disease cases used by health professionals, educators, as well as students. With this information, I have also been putting together a publication that addresses how NIH Guidelines for NF1 delays the diagnosis of infants who show anterolateral bowing of the tibia but have not yet developed other characteristics of the disease by focusing on a unique case. Finally, I am working on developing an NF1 Resource Group in the South Bend, IN area that will hopefully begin in the fall.'
Congratulations all - we had a highly successful ND-Day 2018!
We were in the top 5 with 2,531 votes, raising ~ $14,500 which is expected to receive a match of ~ $22,200 by the University.
Total amount for ND Day 2018 ~ $36,700! Well done!
FYI in 2017 we were in 54th place, so in one year, we've come a long way! And more to go next year in 2019 (the total University pie to be captured is ~ $1.0 mil).
Thank you for your amazing support!
In honor of Rare Disease Day, February 28th
Alone we are rare, together we are strong
Click on the photo below to view photos from Rare and Neglected Disease Day Conference
Cancellation Due to Weather / Rare and Neglected Disease Day Conference
South Bend, Indiana has issued a weather warning status this evening. We are meant to stay off the roads. Therefore, we had to cancel tomorrow's 2.10.18 program.
We are very saddened by this and we thank everyone who was able to make it today. For everyone that we did not see we hope to see you all next year!
Rare and Neglected Disease Day 2018 Agenda is out!
Click below for full schedule