Primary immunodeficiency diseases have long been neglected as medical conditions, but are now recognized as a worldwide health problem. The characterization of disease-related genes is crucial not only for the definitive diagnosis of disease in affected individuals but also for genetic counselling, family screening, and prenatal and early neonatal diagnosis. By contrast with the progress of molecular genetics and the continuing discovery of new primary immunodeficiency disorders, many patients continue to be ill and die early because of misdiagnosis and inadequate treatment. Thus rapid advances in cutting-edge research into the pathogenesis, diagnosis, and treatment of these disorders seem to have widened the gap between knowledge accumulated and the application of this knowledge in everyday clinical practice. This situation shows how research and development can fail to be converted into practice, in terms of the use of new knowledge for the benefit of patients, in most countries worldwide and even in some regions of the most developed countries. An initiative in Eastern and Central Europe (ECE) suggests that a joint effort by health professionals, scientific societies, and patients’ associations can make a difference.
A physicians’ education campaign—the J PROJECT—was started in March, 2004, and since then has established itself as a successful awareness program for primary immunodeficiency disorders.
Soon after the J PROJECT was started, it became clear that awareness meetings alone might not be effective because many countries faced the major issue of lack of facilities for genetic diagnosis. A Jeffrey Modell Diagnostic Laboratory was therefore established in Debrecen, Hungary, to serve as a molecular diagnostics laboratory for ECE. This Laboratory was challenged by an increasing number of samples for the analysis of genes related to primary immunodeficiency disorders. Although awareness meetings have continued, the J PROJECT has also gradually changed from a physicians’ education campaign into a collaborative research program that aims to define the mutational spectrum of genes related to primary immunodeficiency disorders and to analyses unique genotype–phenotype relations in ECE. This transition has opened new possibilities for the establishment of clinical and genetic databases and joint research.
The J PROJECT is to create a network of physicians, biologists, and research clinicians in ECE for a better collaboration on medical care and research for primary immunodeficiency disorders. Sufficient resources for a global network should include national and international funding and cross-continental awareness activities, as best exemplified by the pioneering work of the Jeffrey Modell Foundation. Once established, a global network should identify the main criteria for early diagnosis of the many forms of these disorders. Genetic analysis of disease-related genes and the creation of sub-registries could further develop the genetic databases first generated by the ESID registry. Knowledge dissemination by the J PROJECT should have measurable results about awareness of primary immunodeficiency disorder.