The National Institutes of Health (NIH) will conduct a new clinical trial which will focus on some of the most puzzling medical cases.

The Undiagnosed Diseases Program, will take cases referred to the NIH Clinical Center in Bethesda by doctors across the U.S.

NIH Director Dr Elias A. Zerhouni says a small number of patients suffer from symptoms that do not correspond to known conditions, making their care and treatment extraordinarily difficult.

Dr. Zerhouni says the history of biomedical research shows that careful study of baffling cases can provide new insights into the mechanisms of disease - both rare and common.

The program aims to improve disease management for individual patients and to advance medical knowledge in general.

The new program, which is currently underway will accept the first patients in July who will be seen by an impressive team of 25 doctors offering a range of skills and expertise including endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics.

Dr. William Gahl, an expert on rare genetic diseases is the director of the new program and he says a stringent referral process will ensure only those cases that have truly confounded medical experts will be enrolled.

Dr. Gahl says the focus will be strictly on conditions that have not been diagnosed.

To be eligible for the pilot program, a patient must be referred by a doctor and provide all medical records and diagnostic test results requested.

The program will offer hope to families who often have exhausted all other options.

As many as 100 each year are expected to be enrolled and they will then undergo additional evaluation during a visit to the NIH Clinical Center that may take up to a week.

Patient recruitment and logistics for the new program will be done by two nurses and the existing facilities and staff already at the NIH Clinical Center, will be utilized.

Cancer is caused by something changing in our gene pool, our genes, which make the body's own cells start dividing uncontrollably. Genes are copied to mRNA that later function as templates from which proteins can be built in a cell. Certain proteins speed up the cell's division time, while others put the brakes on it. So if there is too much or too little of some protein, or if it becomes wrongly constructed, this can lead to cancer.

In her thesis, Karolina Partheen has measured gene copies and how much mRNA or protein has built in different tumors that have the same prognosis. This is done in order to then compare whether there are any differences between tumors from patients who survive or die from the disease.

"One of the most interesting discoveries in the thesis was a profile that seems to be able to distinguish a particular group of patients where everyone survives. In future, if these patients can be detected before treatment with antineoplastic agents, they would be able to get an alternative treatment that results in fewer side effects. Patients that do not correspond to our profile can receive standard treatment with some further medication from the start and tighter follow-ups. In this way the treatment becomes more effective, and side effects are minimised, as well as costs reduced for any over-treatment of patients", says Karolina Partheen.

gupea.ub.gu.se/dspace/handle/2077/10126 and sahlgrenska.se