Led by principal investigator Vandana Shashi, M.D., Professor of Pediatrics, Duke Medicine has had extensive experience working with rare and undiagnosed diseases, being an early adopter of genome sequencing in the diagnoses in children with undiagnosed diseases. Dr. Shashi and her team of UDN clinical consultants from specialty areas including Genetics, Dermatology, Cardiology, Endocrinology, Gastroenterology, Hematology, Nephrology, Neurology, Rheumatology, Allergy/Immunology, Dentistry, Pulmonary, Ophthalmology, Psychiatry, Radiology, Surgery, Orthopedics, Pathology and Oncology, are all prepared to evaluate the complex patients that are expected to be participating in the UDN. The goal is to bring leading experts in their fields together for the purpose of providing a diagnosis for the patient.

“Patients and families shoulder a huge burden medically, emotionally and financially while pursuing a specific diagnosis of a rare disorder,” Shashi said. “Duke’s participation in this network and our prior experience with rare disorders will enable us to provide diagnostic resolution, information relevant to other family members and potentially new treatment options to many such patients and their families.”

Following the extensive clinical work-up and evaluation provided by the Duke Medicine UDN clinical team, genomic sequencing and analysis will be fully utilized to gather a complete understanding of the underlying cause of a presumed-genetic diagnosis.

David Goldstein, PhD, director of the Institute of Genomic Medicine at Columbia University, is one of the world’s leading scientists in the analysis of genomic data. His state of the art facility at Columbia allows for rapid and in-depth analysis of the genome, not only facilitating finding a genetic diagnosis but providing the capability of understanding the mechanisms that would cause disease. Dr. Shashi and he have had a longstanding and highly successful collaboration of providing diagnoses to patients as part of the Duke Sequencing Clinic, which will now continue into the UDN.

“We have been running a formal sequencing clinic for several years now, and this experience has taught us how important it can be to think hard about each and every patient genome and to consider their genomes carefully in the context of their specific clinical presentations,” Goldstein said. “This is the exact philosophy embodied in the UDN, and we are eager to participate in a project that we hope will help to change the way genomics is used in the study of rare serious diseases.”




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