Ride For Life: Orphan diseases: Research becomes a family affair

A growing number of disease-focused family foundations are expanding beyond publicity and fund-raising, beginning to conduct "actual research and drug testing in the hope of speeding process toward a cure," the Wall Street Journal reports.

While the "vast majority" of such foundations focus primarily on providing information, others are supporting research on "orphan diseases" that are so "rare or hard to cure" that major drug companies have little interest in developing treatment for them, the Journal reports. For example, the Hereditary Disease Foundation, which supports research into Huntington's disease, is paying more than $1 million to Aurora Biosciences Corp., which has since been acquired by Vertex Pharmaceuticals, to test 500,000 drug compounds. Under the arrangement, the foundation has effectively hired Aurora researchers to work on finding a cure for Huntington's disease, an inherited disorder that disrupts motor control and leads to death.

The ALS Therapy Development Foundation is even more "aggressive and creative." It runs the largest animal screening program for Lou Gehrig's disease, and by offering competitive salaries and the opportunity to work directly with patients, the foundation has successfully recruited scientists away from pharmaceutical and biotechnology companies.

Fran Daley, an ALS patient who donated $500,000 to the foundation, said, "The patient marketplace failed me. Now I have scientists who are working for me."

Foundations also have started sharing information and databases that might help research into different diseases. For example, the ALS and Huntington's groups swap information because the diseases share some of the same biological pathways, the Journal reports.

MINOR DRAWBACKS

The NIH is supportive of such research, though officials caution that the foundations' focus on finding cures quickly carries a risk. "We don't have five years to wait for the traditional drug discovery process," James Heywood, who set up the ALS foundation after his brother was diagnosed with the disease, said. But moving too quickly means researchers "might miss something that perhaps shows only a small effect on [a] mouse but might be important," Jill Heemskerk, an NIH official, said. Massachusetts General Hospital Physician-in-Chief Dennis Ausiello also cautions that the targeted research may divert funding away from basic research that is more likely to lead to better long-term results. Still, Ausiello said he supports the patient-driven research and noted it will likely increase in popularity among patients "desperate for an immediate treatment"

(Marcus, Wall Street Journal, 4/25).