Funding
Funding will lead to rapid progress in the disease areas served by the Foundation. We can typically complete planned projects within one to three years, given the efficiency of our patented testing process—the Index-Test Method.
Why we seek Private Funding
We seek private funding because federal funding does not encompass some specific and important areas of medical research. Current federal funding concentrates on mathematical studies of disease, improving laboratory technology, exhaustive studies of previous findings, and research into educating the public about health issues. It could take federally funded medical research at least ten to twenty years to even begin to utilize and extend our findings that have been published in leading medical journals. Must patients with incurable, often fatal illnesses wait this long? We at the Disease Insight Research Foundation don’t think so!
How Funding will Lead to Important Medical Progress
We will prioritize our funding dollars to accomplish our most realistic and cost effective goals. Additionally, we will methodically build our research capability to pursue the challenging goals that will have a maximum impact on saving lives. (The following are listed according to their estimated cost):
1. Determine the circumstance in which diagnostic X-rays increase the risk of breast cancer for A-T mutation carriers.*
These carriers, in A-T families and the general population, need this information to decide which procedures are totally safe and which may add to their risk. For example, repeated screening mammograms may not contribute measurably to breast cancer risk at current dose levels. Women need to know this if this is true, so they do not unnecessarily avoid this effective screening method.
*This current project needs additional funding and support.
2. Improve detection of A-T mutations and offer testing to subjects from the A-T Family Study.
Current methods, which haven’t improved in several years, fail to detect about 15% of the mutations in A-T patients. Whenever we could tell relatives of these patients whether they carried the family mutation, if they asked, we did. Carriers of childbearing age often asked if their spouses could be tested, an expensive procedure of unknown reliability. We will improve detection reliability and lower the cost substantially, with an approach that Dr. Swift has tried on a limited scale. Blood relatives and spouse in A-T families will benefit, but so will the general public for whom A-T mutation DNA screening will be possible. New mutation detection methods will also enhance planned research into the role of A-T mutations in cancer and coronary heart disease.
3. Determine which WS mutations, of the 20 most frequent in the general population, predispose carriers to psychiatric illness.
This study, using the Index-Test Method, will provide convincing evidence showing how important WS mutations are as a genetic cause of mental illness. DIRF can complete this study at relatively modest cost because the National Institute of Mental Health has collected 1000s of samples from psychiatric patients, samples that are precisely suited to the index-test strategy. The lab methods to detect these 20 mutations require relatively simple equipment.
Positive findings from this study will lead to comprehensive screening by DNA sequencing for all WS mutations. Because the NIMH samples came from patients with all types of psychiatric illness, the results will indicate which specific disorders arise from WS mutations.
4. Determine which common A-T missense mutations predispose female carriers to breast cancer.
5. With this information in hand, measure carefully the survival of A-T mutation carriers with breast cancer in the general population, and determine whether radiation therapy leads to a better outcome than surgery alone.
6. Confirm (or disconfirm) with the Index-Test Method that A-T mutations predispose to early coronary heart disease and to pancreatic, lung, prostate, bladder, or other cancers previously observed in the A-T Family Study. (New England Journal of Medicine 1987 and 1991).
7. Confirm (or disconfirm) with the Index-Test Method that A¬ T mutations predispose to early coronary heart disease and to pancreatic, lung, prostate, bladder, or other cancers previously observed in the A¬ T Family Study. (New England Journal of Medicine 1987 and 1991).
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