More Muscle for Medical Sleuths

This summer, the National Institutes of Health (NIH) began a campaign to define, explain and find support for disorders whose origins and treatments are unknown. The Undiagnosed Disease Network is composed of six medical centers around the country focused on the most difficult-to-solve medical cases.

They will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed conditions.

As described in the Los Angeles Times, it is hoped that the “whodunnit” initiative will clear a backlog of medical cold cases with “dazzling” new tools yielded by medical sleuths. In addition to helping patients who shuffle from doctor to doctor in search of answers to a disorder no one can pin down, it’s also an opportunity for scientists to glean new insights into the human genome and how it causes – and maybe cures – disease.

By the summer of 2017, the Undiagnosed Disease Network is expected to have enrolled at least 300 new patients per year, nationwide, with mysterious and intractable conditions. All of these disorders have stumped the pros. Many practitioners fail to recognize some of the conditions under study because they see them so seldom, if ever. Many have not been described in the medical literature or are rare forms of more common diseases.

Some might have origins in infection or environmental exposure, some in a patient’s genes, but have been unexpressed or escaped detection in the patient’s forebears.

The new infusion of cash ($43 million) and renewed commitment to solving medical mysteries builds on a 6-year-old pilot program at the NIH’s Bethesda, Maryland, clinical center, where about 600 patients whose symptoms have eluded diagnosis and treatment receive extensive diagnostic work-ups in a bid to identify and treat them.

So far, using genomic analysis and tons of standard diagnostic tests, the clinical/research team has diagnosed about 100 patients. Two unknown diseases have been identified as well as 15 genes not previously associated with any other human disease.

New members of the network are:

  • Baylor College of Medicine in Houston
  • Boston Children’s Hospital, Brigham and Women’s Hospital and Massachusetts General Hospital in Boston
  • Duke University in Durham, N.C.
  • Stanford University in Palo Alto, Calif.
  • UCLA
  • Vanderbilt University Medical Center in Nashville, Tenn.

Key to successful sleuthing is our rapidly developing understanding of the human genome. Since the Human Genome Project was launched in 1990, genomic analysis has become faster, less expensive, more comprehensive and more reliable. And the results are significant.

For example, the genetic analysis of solid tumors often drives the choice of targeted treatments for cancer – before, all patients with a certain kind of cancer generally received a common treatment, whether it was drugs, radiation, chemotherapy, surgery or a combination. Now, each patient’s genetic profile helps doctors customize the treatment just for them.

The same gee-whizzery, it is hoped, provides the clues to mysterious health threats. A simple blood sample from a patient and both parents might enable researchers to search the exome; that is, the 37 million base pairs in 20,000 genes where most known genetic disorders are thought to arise. The point is to spot the genetic variation responsible for causing the patient’s disease, and suggest existing therapies or treatments to manage it or clarify the prognosis.

It can help the extended family plan for other problems. One family had a very sick child whose brain suffered constant seizures. There was no family history of the disorder. Clinicians at UCLA were able not only to identify the infant’s seizure disorder as a genetic condition, but found the exact location of the genetic mutation responsible for it. Unfortunately, it was fatal.

But if the parents choose to have another child, they can undergo in vitro fertilization so that their genetic information can be searched for the mutation in the embryos created, allowing them to implant only those without it.

Common practices across the network are being developed so that member institutions select, evaluate and diagnose patients in similar ways. Network members will collect and share their data. No patient will be denied participation in the Undiagnosed Diseases Network solely because he or she lacks health insurance coverage.

To find out more about the Undiagnosed Diseases Network, link here.

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