When a child has a disease that has defied standard medical diagnosis, advanced genetic and genomic analyses may provide an answer when all other avenues have been exhausted. Doctors from NYU Langone’s Pediatric Undiagnosed Diseases Program, part of the Center for Human Genetics and Genomics and the Department of Pediatrics, use the most advanced genetic and genomic technologies that are not clinically available to seek out the root cause of undiagnosed, likely genetic, diseases affecting children.

Our research program diagnoses known diseases as well as new ones. After we identify a genetic mutation causing the disease, we validate the mutation clinically and return this result to the family. Through our efforts, we aim to provide families with answers as well as to promote research of rare diseases.

Our patients are usually referred to us by the child’s physicians. If the child is a fit for our research program, we enroll the child and family in our research program. We then conduct a thorough review of the child’s medical records, and using this information, we determine which advanced genetic and genomic analyses are most likely to lead us to a diagnosis.

Diagnoses provided by the team at the Pediatric Undiagnosed Diseases Program often lead to more accurate prognoses and improved guidance for clinical care and family support. Sometimes they lead to better treatments and new avenues for research. To make a referral, please use our webform.