This month, UCSF will open one of only a small number of centers in the world dedicated to the diagnosis, treatment and cure of children suffering from primary immune disorders such as the famed “bubble boy” disease. The center will be led by one of the world’s leading authorities on the debilitating and sometimes deadly inherited conditions that can rob sufferers of the ability to fight off infection.
The Jeffrey Modell Foundation (JMF) Diagnostic Center for Primary Immunodeficiencies at UCSF will be one of 34 such centers devoted to the diagnosis of the more than 120 distinct primary immune diseases or PI.
Opening ceremonies will be held on Monday, May 14, at 10 a.m. at the Paul and Lydia Kalmanovitz Library at 530 Parnassus Ave. at UCSF.
The event will be attended by Modell Foundation co-founders Fred and Vicki Modell, whose philanthropic efforts have resulted in establishment of Modell centers of excellence throughout the United States, Europe and Asia in memory of their son, Jeffrey, who died in 1986 of a primary immune disorder at age 15.
“There is a large, undiagnosed population of children and young adults suffering with these diseases, keeping them from enjoying a full life, as they often miss 30 or 40 days of school every year,” says Vicki Modell. “Their illness interrupts their activities, detours their plans and shatters their dreams.” Prompt diagnosis and treatment can help some individuals lead normal lives.
The Modell Foundation Diagnostic Center at UCSF will be led by Jennifer Puck, MD, professor of pediatrics and human genetics and director of the Pediatric Clinical Research Center at UCSF Children’s Hospital. Puck is a pioneer in the field of primary immunodeficiency research and care. Following the opening of the new center, she will host a conference featuring experts in newborn screening and immunology to discuss coordination of the use of the newborn screening test she developed to detect severe combined immunodeficiency disease (SCID), or bubble boy disease, in infants.
Primary immunodeficiency is the term for a broad spectrum of inherited illnesses that encompass everything from babies born with no infection-fighting cells called lymphocytes to children and adults with rare and not-so-rare difficulties with excessive infections or unbalanced immune reactions that can attack a person’s own tissues. PI diseases can affect males and females of all ages. The most severe forms are present during infancy or childhood but are often misdiagnosed as common sinus or ear infections, bronchitis, pneumonia and diarrhea. In fact, these children’s ability to fight off infection is greatly reduced or absent. Failure to diagnose and treat PI can result in serious chronic illness, permanent organ damage and death.
Puck and her research team at the National Institutes of Health (NIH) helped to discover the gene that causes X-linked SCID, which is responsible for half of all cases of SCID. Puck also is an editor of the world’s only comprehensive textbook on inherited immune diseases in children and adults, “Primary Immunodeficiency Diseases: A Molecular and Genetic Approach.” She joined the UCSF faculty in 2006, where she currently works on developing programs to screen all newborns for SCID, an approach that would identify SCID babies in time for treatment before debilitating infections occur.
“Early recognition and diagnosis save lives and improve the health of immune-deficient patients,” Puck says. “UCSF has a long history of groundbreaking research and outstanding care of individuals with these conditions. The educational and diagnostic programs made possible through the Modell Diagnostic Center will provide a framework within which we can reach out to the community as a center of excellence. We will be able to diagnose and treat more patients with PI and, in partnership with our local medical colleagues and by networking with researchers around the world, we can advance cutting-edge research to learn more about these rare diseases.”
During the past 20 years, the standard treatment for babies born with the severest forms of primary immunodeficiency disease, such as SCID, has been replacing their defective immune system with a healthy one through a bone marrow transplant from a donor with a functioning immune system. One of the pioneers of this technique has been Morton Cowan, MD, division chief of bone marrow transplantation at UCSF Children’s Hospital. Today, additional research into PI focuses on perfecting gene therapy techniques that will allow doctors to correct the “spelling mistake” in the patient’s genetic code.
A recent survey of the Modell Centers shows that they are fulfilling their promise of advancing the diagnosis and care of those suffering with PI, says Fred Modell. During a three-year period, there was a 98 percent average annual increase in the number of patients diagnosed with PI worldwide, the surveys found, and a 77 percent annual increase worldwide in the number of PI patients receiving treatment.
Modell says he is pleased with the new partnership with UCSF, as well as with financial support from Baxter Healthcare Corporation. “We are thrilled with the support from UCSF and Baxter Healthcare Corporation,” he says. “Experts have estimated that as many as 500,000 cases of PI remain undiagnosed in the United States, and our goal is to give every child a chance to lead a healthy, normal life.”
Baxter Healthcare provided an unrestricted grant to the JMF. Baxter and the JMF are long-standing partners in the effort to raise awareness and increase diagnosis of PI globally by establishing diagnostic centers around the world and collaborating in programs to raise PI awareness in the Unites States and Europe.
The Jeffrey Modell Foundation was established in 1987 and is dedicated to the early and precise diagnosis, meaningful treatment, and ultimate cure of primary immunodeficiencies. More information can be found at http://www.info4pi.org or by calling the JMF hotline at 1-866-INFO-4-PI.
One of the nation’s top children’s hospitals, UCSF Children’s Hospital creates an environment where children and their families find compassionate care at the healing edge of scientific discovery, with more than 150 experts in 50 medical specialties serving patients throughout Northern California and beyond. The hospital admits about 5,000 children each year, including 1,600 babies born there.
UCSF is a leading university that advances health worldwide by conducting advanced biomedical research, educating graduate students in the life sciences and health professions, and providing complex patient care.