For many people with mysterious conditions, the Undiagnosed Diseases Program (UDP) is their last hope. Founded in 2008, the UDP is a clinical research program of the United States’ National Institutes of Health, which aims to provide answers to patients with mysterious conditions that have defied diagnosis. Using a unique combination of scientific and medical expertise and resources, the UPD is also set to discover new diseases or new aspects of known diseases, advancing medical knowledge.
Created as a United States government pilot program in 2008, the UDP has received more than 3,000 inquiries. However, so far only 300 patients have been accepted into the program. Selected patients head to the NIH’s clinical center for a week of complex and exhaustive tests using state-of-the-art technology. After the patients are sent home, medical experts pursue every option and examine every clue, hoping it leads them to a diagnosis.
To evaluate each patient enrolled in the new program, the NIH has enlisted the expertise of more than 25 of its senior attending physicians, whose specialties include endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics. This collaborative approach makes the UDP unique. Still, the success rate is just 10 to 15%.
To be considered for the UDP, a patient must be referred by their physician and all medical records and diagnostic test results requested must be provided. Patients who meet the program’s criteria will then be asked to undergo additional evaluation during a visit to the NIH Clinical Center in Bethesda, Maryland (United States).
For more information on the UDP program, please visit their website here.

1 thought on “The Undiagnosed Diseases Program at NIH: The Last Hope for Patients with Mysterious Conditions”

  1. Anonymous says:

    Hi my name is Angela I am a mother of four beautiful kids. But I am on this page because of my soon to be six year old daughter she is special needs. She had a genetic work up testing done on her at about two and half months old and the test came back negative which I can not understand. For one I was ten week at my first doctors appt. and they done an ultrasound and told me my baby had a 2″ thickness on the back of her neck which indecated to them she would be a downs baby. They suggested to my husband and I that we abort the baby due to this one fact they had given us. Anyway this went on for months,the day she was born nothing looked abnormal about her a couple of days later her facial features started changing. While she was in the NICU about four days after she was born I was feeding her. Therefor after I was done I rasied her up to rub her back for her to burp and I could tell she had a curvature in her spine I told my husband she has scoliosis he said she is only four day’s old you can not tell that yet. Took her home after she had been in the NICU for a week with jaundices at first we thought everything was ok then we started to think maybe she was colic or something because she cried all the time mostly when holding her or bathing her as long as she was not being touched she was fine. She was two and half months old she spiked a fever of 102.7 rushed her to the ER and she was addmitted to the hospital after they done test and spinal tap she keep getting worse even though they had her on a wide range antibiotic. A few day’s later the cultures had shown she had Strep B bactieral menengitis. At this point she had been spiking fevers of 104.5 finally they got her on the right antibiotices and she was getting better she was hospitalized for two and a half weeks it was only a day or two before they could do a MRI on her they got it passed and done the MRI well it came back with results of blood on her brain. We went through them telling us we had abused our child a Nero.Surgen stated she had a fractured rib upon futher investigation they seen the rib was deformed. At four months old we had a sub-durll shunt placed to resolve the blood on her brain it took about a year and it resolved and they removed the shunts. Then when she was eleven months old she was finally diagnoised with scoliosis. At three years old they had to do an emergency surgery on her due to her apendix had ruptured and she was septic. I know this all must sound as crazy as it makes me feel at times but I just wish I had a diagnosies for whats wrong with my little angel somedays I feel I will never know…

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