Millions of Americans are affected by more than 7,000 rare diseases. With that in mind, the John Paul II Medical Research Institute in Iowa City is launching a new rare genetic disease program to find treatments and cures for a variety of rare diseases.
Jay Kamath, the institute's CEO, said the organization has always had an interest in expanding research into the area of rare disease and felt it was time to do more now.
"As the name implies, rare diseases do not affect the same number of people as a chronic condition such as diabetes, but it's also kind of a misnomer in the sense that while there are less than 200,000 individuals who suffer from a (particular) rare disease, there are more than 30 million Americans who have some form of a rare disease," he said.
Most are children, Kamath stressed, and 30 percent of them will die before age 5. About 98 percent of rare diseases, he added, have no effective treatments.
"We decided we needed to do more to address this particular area so that hopefully we can improve drugs in the pipeline or look at new drugs that will assist these individuals," he told The Catholic Globe, newspaper of the Diocese of Sioux City.
Jenni Moy, business development director at the institute, which is in the Diocese of Davenport, noted that about 80 percent of rare diseases can be attributed to a genetic mutation.
The institute already has had success in addressing a rare disease in the past—Niemann-Pick Type C, a lipid storage disease that causes cholesterol buildup in children leading to dementia. After collecting samples from two children impacted by the disease, Kamath said the institute in its research discovered that an existing drug was effective in treating this illness.
Kamath said it is their hope that by using the "disease in a dish" model—which uses adult stem cells taken from specimens of a patient to grow a cell line that exhibits the condition—they can find effective treatments.
"Rather than testing drugs on a patient and potentially causing side effects in the patient, we can do all of the studies outside a patient's body and find out whether it is safe or not and whether it's safe or not in addressing this particular disease that is being studied," he said. "It saves the patient from going through unnecessary treatment or unnecessary harm."
Research of rare diseases is just one of four areas of study for the institute. The other core areas of research include cancer, neurodegenerative diseases and chronic diseases that affect adults.
Kamath said the John Paul II Medical Research Institute was founded in 2007 by Dr. Alan Moy, a pulmonary specialist in Iowa City.
"Dr. Moy founded the institute to address what he found was a shortcoming when it came to pro-life values being upheld in our state and the nation when it came to a variety of medical practices and medical issues," he said.
This secular organization is grounded in a pro-life bioethic that respects the dignity of every human life. While more than 300 institutes and organizations engage in and support human embryonic stem-cell research, the Iowa institute seeks to find cures and therapies exclusively using a variety of adult stem cells and specifically the induced pluripotent stem cells, which are generated directly from adult stem cells.
Given the size of the institute, Kamath said staff has to be selective in choosing the diseases to research.
"The platform that our institute has created and developed can potentially be applied to a variety of genetically based conditions. Once we have perfected that particular technology, it is our hope we can use that same method to address several diseases that are common in the way they present themselves," he said.
Their work, Kamath noted, right now primarily focuses on research in a lab setting with the hope that soon the work will evolve into a clinical setting.
In addition to expanding research for genetic rare diseases, the institute has established a patient registry on its website, www.jp2mri.org.
"People can sign up with whatever rare disease they might be experiencing so when we are studying that condition or something similar we can contact them and see if they are willing to participate in our studies using the informed consent forms we have put into place and the institutional review board we have set up for those studies," said Kamath, who added they also have a physician registry.
As a part of the launch of the rare genetic disease research program, Kamath said they are hoping to establish a rural telemedicine component.
"There are a lot of people who have rare diseases who live in rural areas and those areas especially have many challenges. The hospitals and clinics that service those areas are often unequipped to diagnose a rare disease that their children exhibit and it can take many years sometimes for the doctors to figure out what is causing them to be sick," he said.
Once a diagnosis is made, those same areas are usually unequipped to treat patients with the specialized care they need. Through telemedicine, Kamath said, the institute hopes to link people in rural areas with specialists who can address their condition and help them with their treatments and being part of studies and with the institute itself so that when studies are being done they can be contacted to participate.
The institute is in the process of establishing a computer-based service to allow video conferencing abilities so they can chat with investigators for research. To fund the startup of the computer portal, it has applied for grants and established a capital campaign.
Kamath pointed out that there are many pro-lifers who give money to various well-known research organizations assuming that their work complies with their personal religious values.
"The vast majority of medical research institutes that are out there sadly are involved with embryonic stem-cell research or support the use of embryonic stem-cell research," he said, with the American Cancer Society, Susan G. Komen and the Muscular Dystrophy Association among them.
"We want people to realize that when they're giving, they need to be diligent about which organizations they are supporting and how those funds are being used," Kamath said. "We are asking for financial support so that we can advance some important areas of medicine that can affect a lot of people."
