On Sept. 22, 2009, the world bid farewell to Lucy O'Donnell Vodden, the fabled "Lucy" of "Lucy in the Sky with Diamonds" fame.
John Lennon's son Julian drew a picture of her in 1966 that inspired the legendary track from The Beatles' "Sgt. Pepper's Lonely Hearts Club Band" album. Vodden, 46 years old at the time of her death, suffered from the autoimmune disease lupus, also known as SLE or systemic lupus erythematosus.
"For people that have lupus, their immune system is unable to tell that some parts of their body are self," said Gail Bruner, clinical coordinator of the Lupus Family Registry and Repository at the Oklahoma Medical Research Foundation in Oklahoma City.
Simply put, in patients with lupus, one's immune system attacks the body's own cells and tissues, resulting in a wide range of harm, especially to the skin, kidneys, lungs and joints. Some of these problems, such as kidney damage, can be life-threatening. Joint pain similar to rheumatoid arthritis is a common symptom.
Lupus also is characterized by a "butterfly rash" across the cheeks and bridge of the nose, although Bruner said the disease never presents identically in two patients. Because the symptoms vary and develop over time, lupus can be difficult to diagnose.
"The way doctors figure out is by doing a complete medical exam involving blood tests, history, physical exam, even X-rays and biopsies," she said.
The ultimate cause of lupus is unknown, but the Lupus Family Registry and Repository's goal is to unlock a piece of the puzzle.
"Our focus is on basic understanding," said Dr. John Harley, principal investigator at the LFRR. "The more fundamentally you understand the disease process, the more powerful your position to do something about it. If you understood it upside down, inside out and backwards, then the points where you could inhibit the disease process or change the outcome would be obvious."
Bruner and Harley stress that current treatments for lupus, including chemotherapy and radiation for some patients, can be as bad or worse than the disease itself.
"It's like trying to stop a runaway computer with a sledgehammer," he said.
In the 1950s, the four-year survival rate for lupus was about 50 percent " a number that has increased greatly, but which researchers at the LFRR are hoping to improve.
Harley came to OMRF in 1982 with a desire to focus his research on lupus, and in 1995, began taking blood samples from lupus patients and their families, hoping to identify genetic factors at work in the disease's development. Although scientists believe that a combination of genetic and environmental factors are at work, the LFRR's focus is on the genetic factors.
Studying those factors is being done by amassing a collection of blood samples from lupus patients and their families, as well as willing members of the public without a personal or family history of the disease to act as controls. So far, the registry has more than 10,000 participants, many of whom are close relatives of lupus patients.
The researchers at the LFRR contributed to a 2008 study published in the journal Nature Genetics that identified 13 new genes that Harley said were previously not suspected to be involved with lupus.
"We'll probably end up with 100," he said. "As for many things, the technologies for doing these things are getting better, and we'll be able to mount larger and larger studies and add more to the picture of how the disorder unfolds."
The LFRR currently is working in conjunction with the National Institute of Arthritis and Musculoskeletal and Skin Diseases, a branch of the National Institutes of Health. The work is funded through September 2011. Harley says the LFRR has been searching for alternative sources of funding, including receiving money from the stimulus package for medical research.
"Raising money is not why we're here," he said. "It's one of those required evils. Without the financial resources to put it together, you can't have it. If it's that important, then you do what you have to do."
The LFRR samples, Bruner said, are the core of the study, and also are available to scientists worldwide who wish to use them in additional studies.
Lupus patients, their relatives and people who want to contribute to the registry as a control sample can donate from anywhere in the world. Local participants may donate at OMRF. For more information, call (888) 655-8787. "Nathan Gunter