NIH expands its “whodunnit” campaign for medical cold cases.
Everyone loves a mystery, except the afflicted patient and his or her family who shuffle from doctor to doctor in search of an explanation for a disorder whose name, origin, prognosis and cure are all unknown.
Now, the National Institutes of Health have underwritten a nationwide “whodunnit” campaign, with a $43 million initiative to fund the diagnosis and exploration of undiagnosed, unrecognized and misunderstood diseases.
Think of it as a bid to clear a backlog of medical cold cases, using dazzling new tools now at the disposal of medical sleuths. Think of it also as an opportunity for scientists to glean new insights into the human genome and its role in causing — and perhaps curing — disease.
The NIH announced the expansion of its Undiagnosed Disease Network, which by the summer of 2017 is expected to enroll at least 300 new patients with mysterious and intractable conditions per year.
The diseases that afflict these patients are conditions that have stumped even skilled physicians. Doctors may fail to recognize the conditions because they are rarely seen, have never been described in the medical literature or are rare forms of more common diseases. Some may be caused outright by infection or environmental exposure. But many will have their origins in a patient’s genes but have been unexpressed or gone undetected earlier.
Two unknown diseases
The initiative builds on a pilot program run for six years from NIH’s Bethesda, Md., clinical center. There, 600 patients whose symptoms have stumped doctors have been brought in for diagnostic work-ups in a bid to identify and treat their diseases.
Using genomic analysis and a full toolbox of diagnostic tests, the multidisciplinary clinical and research team has diagnosed diseases in about 100 patients. In the process, the team discovered two unknown diseases and identified 15 genes not previously associated with any other human disease.
Now, the experts at NIH will be joined by physician/scientists at six institutions nationwide — Baylor College of Medicine in Houston; Boston Children’s Hospital, Brigham and Women’s Hospital, and Massachusetts General Hospital; Duke University in Durham, N.C.; Stanford University; University of California, Los Angeles; and Vanderbilt University Medical Center in Nashville.
Expect the unexpected
The expansion comes at a time that scientists could only dream about when the Human Genome Project was launched in 1990. Today, genomic analysis — faster, cheaper and more reliable than ever before — is finding its way into clinical practices.
As scientists discern the roles and functions of unexplored genes, they are sure to happen upon unexpected discoveries, said Dr. Stanley Nelson, one of the directors of the UCLA program to be expanded. The discovery of a genetic basis for a sick infant’s failure to gain weight, for instance, might shed light on the processes that start the ball rolling in child obesity, he suggested. That, in turn, might lead to ways to address a nationwide public health scourge.
And for anguished families confronted with a very sick child and a disease of unknown origin, such discoveries can set a course for future family-building free of the disease, he said.