Patient Resources
Research
Researchers from the Boler Parseghian Center for Rare and Neglected Diseases, University of Notre Dame conduct two separate, but related, studies. First, we review rare disease patient medical records to identify the pertinent symptoms of the disease. We follow the progression of these symptoms over time to develop the natural history of the disease. This information is then used to identify biomarkers that can determine whether a treatment or therapy is effective.
I. Natural History Study of Rare Diseases
When a patient participates in our natural history study, we obtain a signed medical record release form for each of the patients’ physicians. We include all information from birth to current so we request medical records from any hospital or clinic that has cared for the patient. We send the signed release forms on behalf of the patient family and cover all copying and shipping charges. When we receive the records, all pages are de-identified and stored in a locked filing cabinet and/or password-protected computer. We review the medical records for all pertinent information and provide the patient family with a clinical summary that serves as a quick reference for future doctor visits. We will also send an electronic copy of all of the records for the patient’s personal files.
II. Molecular Study
In addition, researchers at the center ask patients to submit skin biopsies and plasma to evaluate the molecular and cellular factors contributing to disease. Understanding the molecular basis of the rare disease can guide the development of targeted therapies. We work with your geneticist or hospital to obtain the samples for us and process them prior to sending to our research lab. We assist the family with the entire process in order to ensure proper procedure. If interested in this study, please contact the center for more information.
Skin Biopsy, Plasma Informed Consent
Patient Resources
I. Clinical Summaries
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.
II. Patient Interaction/outreach
BP CRND provides opportunities for students and patient families to interact with health care providers, researchers and other rare disease families through events and seminars held on campus. Patient families are assisted in locating patient service organizations, centers of excellence, resources and services for their rare disease. Students interact with patient families and work to raise awareness about rare diseases in our community.