A network of hundreds of doctors has uncovered the biological characteristics of 31 previously unknown diseases, as well as providing diagnoses for other unsolved medical cases, and it continues to investigate many more.
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Numerous patients afflicted by mysterious illnesses remain without a diagnosis despite extensive medical evaluation.
The Undiagnosed Diseases Network (UDN) was established in 2014 in a mission to identify the underlying causes of such conditions.
The multidisciplinary network of doctors from across the United States has been studying the symptoms, biochemistry and genomic sequences of patients with unexplained symptoms.
Their detective-like investigations use a combination of traditional medicine and cutting-edge diagnostic tests. It is funded by the National Institutes of Health Common Fund so there is no cost to patients.
Our goal is to take on the hardest cases in medicine — to find patients and families with conditions that no one has been able to solve... We wanted to provide a place that these people could come, so the Undiagnosed Disease Network came together to try to answer that need.”
Professor Euan Ashley, Stanford University
The network has received 2,780 applications for help, accepted 1,179 and reviewed 907. To date, the UDN has unravelled about 35% of the 382 mystery ailments under investigation.
In 80% of the diagnoses made, the UDN were able to provide actionable information, such as changes to patient therapy, additions to the symptomatic checklist for evaluating particular diseases, adjustments to future diagnostic testing and recommendations for family screening.
We hope that the results of this analysis will provide a compelling case for adopting some of the network’s diagnostic approaches more broadly in an attempt to clarify diagnoses and refine treatment for patients with rare conditions”.
Kimberly Splinter, Associate Director of Research at the UDN
In the latest study of 100 previously unsolved cases, 31 newly identified conditions have been uncovered.
Many of the other diagnoses were rare versions of known diseases.
Ashley commented “Some of these patients had been waiting decades to put a name to their illness. They tell us how much of a relief it is simply to know what they were up against”.
The UDN followed one patient for many years trying to elucidate the cause of mysterious and life-threatening episodes of lactic acidosis, a dangerous build-up of lactic acid.
Finally, they determined that they arose from a single mutation in a gene involved in mitochondria function.
The UDN continues to strive to determine more diagnoses and hopes that ultimately their work will have a global impact, helping diagnose potentially hundreds of patients with the same rare conditions identified through their research.
The paper, entitled “Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease” was published today in the New England Journal of Medicine.