Patient-oriented Research

Patient-oriented research has the primary goal of understanding the experiences of those affected by rare diseases. By collecting and combining the information gathered from the relatively few amount of patients affected by genetic diseases, we are better able to predict the course of a particular disease, better understand who may be more at risk, and describe the real life experiences of those affected.

In clinical research in rare diseases, it can be challenging to locate and recruit enough subjects to make conclusions about the research. To maximize the power and impact of the research done in the Division of Genetic and Genomic Medicine, the Division also collaborates closely with other organizations studying rare diseases, such as the NDRD, LSD, to extend our reach to patients that may benefit from new advances in our understanding of rare disorders. Research is a team effort and we often collaborate with our partners at the Program for the Study of Neurodevelopmental Disorders (NDRD).

Learn More at UPMC Children's Hospital of Pittsburgh »