The Robert Packard Center for ALS Research at Johns Hopkins
Scientists with the Packard Center for ALS Research at Johns Hopkins continue to make vital discoveries about ALS—to shed light on its cause, to explain the course of the disease at a molecular level, and to find and study the genes that either cause it outright or make people susceptible to it. All this, of course, drives Packard’s single-minded goal: Find therapies to beat the disease.
Our scientists, for example, first explained one of the main reasons for cell death in ALS. That find formed the basis for a decade of drug discovery leading to Riluzole, the only FDA-approved drug for ALS.
Scientific work at Packard is not about throwing darts at a board, hoping for a bulls-eye, but rather about taking deeply thoughtful, tailored approaches based on the cumulative understanding of ALS from the world’s leading scientists. This past year, thanks to the generous funding from MDA’s Wings Over Wall Street®, more than 30 outstanding researchers collaborated in our performance-driven model.
In addition, the projects our Center scientists share with other organizations widen the chances of discovery and shorten the path to therapy. Our strong ties with P2ALS, for example, a tight group of top researchers from Packard and Project A.L.S., has advanced gene-silencing as a therapy for familial ALS. The collaboration is also on the verge of making a plentiful supply of human ALS cells a reality. Having actual human ALS cells or tissues to study has been a holy grail of ALS research. They can reveal errors in the true disease; they can be our closest models for drug-testing.
Research projects funded by MDA's Wings Over Wall Street®
Q: What would you do with more money?
A: In October 2011, an international team of researchers that included Packard-funded scientist Bryan Traynor identified a large section of DNA in the middle of the C9ORF72 gene where a series of six DNA bases was repeated hundreds or thousands of times in the ALS patients. Together with previously discovered genes, the new discovery means that the genetics of nearly two-thirds of familial cases is now explained. New data also suggest that about 4-5% of sporadic ALS may be linked to large repeat expansions in C9ORF72, thus making C9ORF72 the most common genetic cause of ALS to date.
This discovery provided an opportunity to build new and better experimental tools to find out how the repeated DNA causes ALS and identify new therapeutic targets to treat the disease.
These exciting discoveries are presenting promising paths for research and therapy development. Funding, however, determines how aggressively we can follow these leads. Almost every week, I’m asked to approve a new, and more often than not, exciting research collaboration with our scientists that might lead to new treatments or offer hope of a cure. It’s hard to turn them down.
We can’t stress enough that the Center’s worldwide collaborative science would be close to impossible without philanthropic support. Additional research dollars received from MDA’s Wings Over Wall Street® will allow us to fund the completely new or next-step studies that need to be done.
We deeply, genuinely thank you for your help.
Jeffrey D. Rothstein, M.D., Ph.D., Director, Packard Center for ALS Research at Johns Hopkins
Piera Pasinelli, PhD, Science Director, Packard Center for ALS Research at Johns Hopkins