How do doctors treat illnesses that elude diagnosis? Not very successfully.
Historically, physicians have done the best they can, but often because of lack of diagnosis they are clueless. Now, the National Institutes of Health is stepping in to help doctors with patients whose debilities are undiagnosed and unresponsive to treatment.
According to Dr. William H. Gahl, director of the new Undiagnosed Diseases Program at NIH, the program’s two main goals are: To provide medical answers to patients with mysterious conditions that have long eluded diagnosis; to advance medical knowledge about rare and common diseases.
In its beginning, the program will be funded primarily by the Office of Rare Diseases (ORD). More funding will be needed as the patient numbers grow. Dr. Gahl is unable to determine what will be needed in the future, but the Undiagnosed Diseases Program is scheduled to begin slowly, accepting one or two patients per week, with a projected number of 100 patients in the first year. Only after assessing the needs of these patients can a projected annual budget be formulated.
Infection Protection asked if the program would be conducted exclusively at NIH facilities, or if grants would be made available for outside studies. Dr. Gahl responded that at least for the present, all patients will be evaluated exclusively at the NIH Clinical Center in Bethesda, Maryland. “Of course,†he continues, “we are reliant upon referring physicians from around the country who are aware of cases that they will recommend to the program.â€
Why begin the program now? The number of patients with undiagnosed diseases is not large. Dr. Gahl says the NIH has been tasked for decades to do clinical studies of diseases, often rare diseases, seeking new and better treatments for patients. He sees the new program as being timely and needed, and the Undiagnosed Diseases Program will bring to bear all of the considerable expertise of the researches at NIH, seeking to discover the origin of these illnesses and find a cure.                        Â
The research will take a broad view of the subject, rather than a narrowly targeted approach which is usual when working with a rare “known†disease. Researchers from many different specialties will be addressing the undiagnosed diseases problem. These include physicians experienced in “rheumatology, immunology, oncology, mental health, nephrology, hematology, ophthalmology, neurology, laboratory medicine, pain and palliative care, bone disorders, endocrinology, oncology, immunology, dermatology, primary immunodeficiency, dentistry, genetics, pathology, pulmonology, cardiology, primary immunodeficiency, internal medicine, pediatrics, and hepatology. All will consult on the cases and evaluations,” says Dr. Gahl.
Has the rapid increase of drug resistant microbes have a bearing on undiagnosed disease? Possibly so – Dr. Gahl and his team intend to leave no stone unturned in their search for diagnoses and treatment for heretofore undiagnosed diseases.Â
– by Dr. Herb Marlow, PhD, Dallas Correspondent

Researchers probing diseases that elude diagnosis.
Posted: July 9th, 2008 under Clostridium difficile, Developing Diseases, EV71, Impaired Immunity, MRSA.
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