Rare Disease Report

Rare Impact Awardee - Cynthia Tifft of the Undiagnosed Disease Network

MAY 22, 2017
Cynthia Tifft, MD

At NORD's Rare Disease Impact Award Ceremony, we talked to one the awardees - Cynthia Tifft, M.D.
Dr Tifft is Deputy Clinical Director at the National Human Genome Research Institute and Director of the Pediatric Undiagnosed Diseases Program at the NIH where she helps families find medical answers they are not finding elsewhere.
As Dr Tifft explains in this video, it is very easy for a patient to apply to the undiagnosed network. The challenge remains in providing a diagnosis.

At Dr Tifft’s site at the NIH, patients who are accepted into the program undergo a week-long inpatient admission where the NIH team does extensive physical and genetic testing, including next-generation sequencing, to try and determine the cause of the patient’s symptoms.
If a gene is associated with the symptoms, Dr Tifft’s team will then attempt to prove, scientifically, that that the specific gene is related to the disease. That will usually involve the creation of an animal model. Dr. Tifft noted that getting to that level of accuracy/success occurs in about 20% of the cases. 

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