This project, spearheaded by top researchers in the field of genetics and metabolic analysis, aims to uncover groundbreaking insights into the genetic and metabolic basis of major diseases.
The funds raised will enable cutting-edge mass spectrometry analysis of blood samples from 15,000 study participants. This comprehensive approach is a proven method for identifying key genetic and metabolic pathways that can lead directly to the development of life-saving treatments. Importantly, this work builds on a track record of success, including discoveries that have already led to FDA-approved drugs.
We are seeking $250,000 to cover the cost of mass spectrometry analysis of blood samples from 15,000 study participants. $16.66 per sample. Why do this project:
- This is top level research that could change the way we address and treat diseases
- This is an excellent and unique 501 C3 donation
What are we doing
We use a combination of genetics and next generation measuring techniques to provide comprehensive genetic and metabolic profiles of 15,000 individuals. These profiles are matched against population registries (e.g. Texas Cancer Registry) to define the genetic and metabolic basis of major diseases.
How are we different
Most genetic studies use an approach known as GWAS (Genome Wide Association Studies), which uses common DNA sequence variants to map genes for complex diseases. These studies have identified DNA variants for such diseases as heart attack, stroke and cancer, but these variants invariably have very small effects and none have proved useful in drug development. For example, of 750 genes for height that have been associated with height, even the most significant changes adult height by less than 1/16 of an inch. So they are statistically significant, but impractical for drug discovery.
In contrast, we take a gene-centric approach, focusing on mutations that disrupt the function of the gene. These mutations are less common in the population but are much more likely to have large effects on the risk of heart attack, stroke and cancer.
Accomplishments to date
This approach has proved to be highly effective for identifying genes that play major roles in biological pathways. We have identified two new pathways in cholesterol metabolism that have led to development of new highly efficacious, FDA-approved drugs for lowering cholesterol and preventing heart attacks. Importantly these drugs are effective in people who cannot take statin drugs, or who do not respond adequately to statin therapy. In addition, we discovered the first gene variant for fatty liver disease. This gene is subject of massive research initiatives at several major drug companies. Drugs resulting from this discovery are now in Phase 3 clinical trials.
Budget Justification
DNA sequencing and annotation has been completed on all 15,000 participants. The sequence variants and mutations in each individual have been compiled and are available for further analysis. Basic indices of body composition, liver and kidney function, and inflammatory status have been determined in each individual. We are now seeking $250,000 to cover the cost of mass spectrometry analysis of blood samples from the 15,000 study participants., $16.66 per sample. This analysis will provide a detailed metabolic profile of energy production and utilization, inflammatory responsiveness and burden, environmental toxins, liver and renal function, and lipid metabolism.
The reason we are not going for NIH funding is because we want complete control over the data. NIH requires a data-sharing agreement to disperse the data throughout the world. We do not wish to be bogged down by the oversight committees that inevitably accompany NIH grants. For this reason the Dallas Heart Study and the Dallas Biobank study were supported by private funds.
Thanks for considering this project. The donation can be given any time as Edison Foundation paperwork has already been submitted.