Professor Richard Trembath of the University of Leicester stated that PPH constitutes a devastating disorder of the blood vessels in the lungs. Although new treatments are becoming available, the prognosis for survival is still poor. Heart-lung transplants remain the final option for selected patients. The group effort, consisting of equal thirds, between Vanderbilt University, Nashville, The Children's Hospital, Cincinnati, and The Division of Medical Genetics at University of Leicester, identified the gene for PPH by searching for the location of the gene within the human genome and then using the recently made available map of the human genome sequence.
As Professor Sir Charles George, who is Medical Director at the British Heart Foundation, commented, "We are delighted to have funded research to identify the gene mutation responsible for this devastating lung disease, and we are very pleased for the researchers at Leicester, who have made such an exciting discovery. Primary Pulmonary Hypertension affects around hundred people in the United Kingdom each year and the disease is often fatal. Now that the researchers have found the gene, they can concentrate on how it works. Further research may show whether other genes equally play a part, and in time may provide the answers which can lead to the prevention of this debilitating disease."
According to Professor Trembath, the finding has immediate implications for the families with the disorder, providing a tool for testing at risk family members. However, in the longer term of five to ten years ahead, new drug treatments might emerge through studies looking at the normal and altered function of this gene. Finally, in more recent studies, it would appear that changes in the same gene cause at least 25 percent of apparent single cases. These studies represent a major breakthrough in this condition and also identify one of the most important mechanisms, by which blood vessels communicate to the outside. Professor Trembath added that the Leicester research team is proud to be a full and significant contributor to this work since it is a great example of patients to laboratory science and back to the patients.
The other two funding awards, granted to the University of Leicester, relate to gene interaction research. Announcing these two awards, Professor Joe Lunec, Head of the Division of Chemical Pathology, stated that funding of £300.000 from the Food Standards Agency will establish a gene micro-array facility at the University, thus making it the first academic institution in the United Kingdom to possess this newly developed technology. The Food Standards Agency advises the British Government of the health benefits or hazards of foods and their ingredients.
"The gene micro-array from Affymetrix was developed in Silicon Valley in California, home of the computer chip. It allows the expression of 60.000 genes simultaneously on one chip", according to Professor Joe Lunec. "The technology will be utilised in the first instance to investigate diet-gene interactions in colon cancer, particularly looking at fats." In addition to the Food Standards Agency grant, the University of Leicester has on the basis of this innovative technology been awarded a second funding for £74.000 from the Arthritis and Rheumatism Council (ARC) to investigate the genetic basis of cardiovascular disease in rheumatoid arthritis. "This is an important grant because it will be the first time that such technology has been used to investigate genes associated with cardiovascular disease or rheumatoid arthritis", stated Professor Lunec.