The ALS Association’s viral “ice bucket challenge” has been successful in raising over $90 million dollars to fund research for the prevention, treatment and eventual cure of amyotrophic lateral sclerosis (ALS). The entertaining viral videos of celebrities and “regular” people successfully and sometimes not so successfully dumping full buckets of ice water over their heads have been spectacularly effective in raising both awareness and funds.
While raising funds to combat such a debilitating and fatal disease is a laudable goal, many Catholics have been reluctant to donate money to an organization that, despite its good intentions, supports embryonic stem cell research. The Archdiocese of Cincinnati for instance issued a statement that it would be donating its “ice bucket challenge” funds to the John Paul II Medical Research Institute instead of the ALS Association.
The JPII Medical Research Institute funds ALS research but does so in a manner that is “grounded in a pro-life bioethic that respects the dignity of every human life,” making it an ethically viable alternative for Catholics who wish to support ALS research. In addition to pursuing ALS research from an ethical prospective, the JPII Medical Research Institute has a much broader reach, making it an attractive alternative for other reasons. In particular, it seeks to fill a funding void for many rare or orphan diseases, diseases that are neglected by pharmaceutical companies and lack high profile advocacy groups such as the ALS Foundation.
Funding for these diseases is needed now more than ever as budget cuts at the National Institutes of Health has caused the NIH to prioritize research funding toward those efforts shown the most promise for the greatest good, a prioritization that in effect marginalizes rare disease research. Likewise, pharmaceutical companies have less financial incentive to devote large percentages of their resources to rare diseases that promise little financial payoff if a drug successfully makes it to market.
Last February at the NIH Rare Disease Day event, patients suffering from rare diseases delivered a petition and message to Francis Collins, the director of the NIH, asking him to reconsider his decision to end the long- running observational studies of fibromuscular dysplasia and four other rare diseases. In an email after the Rare Disease Day event to a Wall Street Journal reporter, Collins cited constraints caused by the budget squeeze as the reason for the inability to continue the data collection for the five rare diseases. And, while there will be funding to “help manage the existing information,” patients will no longer be enrolled in the studies and no new data will be collected.
The fight to continue the studies exemplifies tensions that often arise between researcher organizations and patients with rare diseases over which efforts yield the most valuable science. The Wall Street Journal reported that while both the NIH and the Food and Drug Administration acknowledge that such studies are a critical early step toward drug development, because “the studies are expensive and do not always lead to new trials … they are harder to sustain at a time of budget cuts.”
While NIH and most large pharmaceutical companies have devoted far fewer resources to studying rare diseases, organizations like the JPII Research Institute and Catholic universities—motivated by the call to serve the poor and marginalized—have begun to step in to fill the void. The University of Notre Dame and Franciscan University of Steubenville, Ohio have both made it part of their mission to collaborate with visionary companies like Eli Lily and AbbVie for research and drug development on rare and neglected diseases.
At the University of Notre Dame, the Center for Rare and Neglected Diseases is working on developing treatments for diseases such as Niemann Pick Type C (NP-C) and Mucopolysaccharidosis Type III A that have fallen through the economic cracks in the drug development pipeline. Such rare diseases offer little in the way of potential financial rewards for pharmaceutical companies due to the low numbers of individuals affected by these disorders. Likewise, the Center is spearheading efforts to develop new treatments for malaria and tuberculosis, diseases that predominantly affect poor countries that do not offer attractive markets for pharmaceutical companies.
In a statement posted on the Center’s website, Gregory Crawford, dean of the College of Science at Notre Dame writes: “Our commitment to research on rare and neglected diseases comes from the heart of our mission…. We will bring the full strength of our resources, the best scientists and the most cutting edge research to bear for the sake of suffering human beings. As a Catholic University, we understand the importance of common good, of human solidarity, of serving the poor—and we hear the call to heal the sick.”
In a similar fashion, Franciscan University has made a strong mission driven commitment to research on rare and neglected diseases. The Franciscan Institute for Science and Health sponsors ongoing research on the link between metabolic defects and rare mitochondrial related seizure disorders and it collaborates with AbbVie labs on an innovative academic/industry program for developing drugs against neglected diseases such as TB and malaria. In addition, the university holds an annual Rare Diseases Day in February, which provides an opportunity for families with rare diseases to learn about ongoing research as well as educate students about the on-going need for research in this area.
The Catholic call to serve the marginalized and neglected, motivates both of these university efforts. While these universities pursue and promote ethically sound research avenues, groups like the ALS Foundation and the March of Dimes advocate for and financially support embryonic stem cell research. This continues despite the fact that the most promising and cost effective avenue of research in the rare disease field has been facilitated by the creation of induced pluripotent stem cells (iPSCs), an ethically viable alternative to embryonic stem cell research. iPSCs can be produced directly from the skin cells of a patient with a rare disease and can be used to generate any type of cell needed to study the disorder. For example, nerve cells can be created from the iPS cells produced from a patient with a rare seizure disorder. Such nerve cells can be an excellent model for both understanding the pathology of the seizure disorder and for screening drugs that might be efficacious in treating the disorder.
With the unique collaborations between industry and academia being forged by these Catholic universities, coupled with the ethically sound research opportunities afforded by iPS cells, rare and neglected disease research is getting a much needed boost at a critical time. These universities, along with like-minded research organizations such as the JPII Medical Research Institute, represent real rays of hope for patients and their families.