January 15, 2008

Opening of the RIKEN Jeffrey Modell
Diagnostic and Research Center for Primary
Immunodeficiencies
Accelerating Identification of Causative Genes in Primary Immunodeficiencies andUnderstanding the Pathogenesis of these Diseases
RIKEN (President: Ryoji Noyori) Research Center for Allergy and Immunology ("RCAI",
Director: Dr. Masaru Taniguchi) in conjunction with 13 universities including theUniversity of Toyama (President: Tokuso Saito) and Kazusa DNA Research Institute(Director: Dr. Michio Oishi), and with the support of the Jeffrey Modell Foundation (JMF),a United States non-profit organization, on January 15 established the RIKEN Jeffrey
Modell Diagnostic and Research Center for Primary Immunodeficiencies1 to promotecomprehensive basic research in areas such as identifying causative genes in primary
immunodeficiency diseases and understanding their pathological mechanism.
After signing a joint research agreement with 13 universities which specialize in clinicalresearch into primary immunodeficiency diseases (PID) and Kazusa DNA ResearchInstitute, RIKEN RCAI has been accepting the DNA of patients suffering from PID,
performing genetic analyses, and building a database containing the analytical results.
Recognition of the above research framework led to the establishment of the RIKEN
Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies with Dr.
Toshitada Takemori (RCAI Coordinator and Group Director) appointed as the center'sdirector.
The opening of the first Jeffrey Modell Diagnostic and Research Center in Japan will
focus the collective efforts of domestic organizations specializing in the diagnosis andtreatment of PID. The long term goal of this strategy is to enable the prompt diagnosis ofPID, allowing early decisions concerning appropriate treatment options, thereby
resulting in a direct improvement in the quality life of patients.
Through its cooperation with other Jeffrey Modell Diagnostic and Research Centers, theRIKEN center is expected to become an important scientific base in promoting basic
research into the treatment of PID, as well as increasing the understanding of thedevelopment of the human immune system.

1. Background
RIKEN Research Center for Allergy and Immunology (RCAI) has formed acollaboration with 13 universities from all over Japan which belong to theresearch team for Investigative Research on Primary Immunodeficiency Disease
Syndrome,2 ( "Ministry of Health, Labour and Welfare Survey Research Team",Research Leader: Dr. Toshio Miyawaki, Director, Faculty of Medicine, Universityof Toyama), a research program of the Ministry of Health, Labour and Welfarefor overcoming intractable diseases. This team, in cooperation with Kazusa DNA
Research Institute, has been promoting research on the immunological analyses
and identification of causative genes in anonymized3 PID patients (See August9, 2007 press release).
RCAI has been in the process of building a general diagnostic and therapeutic
database which integrates clinical information and basic analytical data and asystem for providing this information to specialists. In addition, to build a
database for predicting the onset of pathological conditions and treatment
results, Dr. Sujatha Mohan of the Bioinformatics Institute iFounder andDirector: Akhilesh Pandey, an institute in Bangalore India renowned for its
achievements in this field, has also been engaging in joint operations throughher participation as an RCAI unit leader. Through this platform, RCAI has also
succeeded in developing a model mouse where human primary
immunodeficiencies have been reproduced using a humanized mousetechnology and, utilizing this system, is currently promoting basic research for
identifying pathogenetic mechanisms and pathological conditions anddiscovering curative treatments
2. The current state of PID
According to a report on PID syndromes compiled by the blood systems
investigative research team, it is estimated that about 10,000 people in Japansuffer from PID,. The immune functions of individuals with these disorders are
defective due to congenital abnormalities, making these patients susceptible toinfection by pathogens such as bacteria, viruses, and fungi. These are extremely
serious disorders, which at times are accompanied by malignant tumors at a
young age, autoimmune diseases, and allergies. At present more than 120
causative PID genes have been identified, but there are many varieties of PID
for which the cause has not yet been determined.
In cases where the causative gene has been identified, treatments such ashaematopoietic stem cell transplants and gene-repair therapy may beadministered, resulting in the cure of some disorders. However, because there isoften a delay in diagnosis, there are many cases where patients become
afflicted with serious infectious diseases and die as a result. Particularly in cases
where the causative gene has not been identified, diagnosis and adequate
treatment methods have not been established.
In Japan, cases of PID have been dispersed and no central database, which
could amass clinical information or results of genetic analyses, has existed in thepast, making it difficult to identify causative genes.
3. The opening of the RIKEN Jeffrey Modell Diagnostic and Research Center forPrimary Immunodeficiencies
The work of the RCAI to date has been highly regarded by the Jeffrey Modell
Foundation (JMF), an American NPO established in 1987 to prevent PID and topromote its diagnosis and treatment throughout the world, and a decision was bymade by RIKEN and JMF to jointly engage in a project to build a diagnostic
research and clinical data platform. The establishment of the RIKEN Jeffrey
Modell Research Center for Primary Immunodeficiencies with the cooperation ofthe RCAI and the Kazusa DNA Research Institute as well as 13 universities
across Japan will not only contribute to the study of basic immunology but is also
expected to play a major role in speeding up the diagnosis of PID and theselection of more appropriate approaches to treatment.
To open the new center, the RCAI will hold an inaugural dedication ceremony
which will be attended by JMF founders Mr. Fred and Mrs. Vicki Modell,President of CSL Behring LLC Peter Turner, and the Tsubasa no Kai (aJapanese advocacy group for PID patients and their families).
The RIKEN Jeffrey Modell Immunodeficiency Research Center will begin its
work to build a database on immunodeficiency diseases based on a three-year
plan. The location of the center will be within RIKEN RCAI and initially is
expected to have a staff of seven. In addition to recording PID clinical data,
which will be collected from all over Japan, the center will perform immunologicaldiagnostic analyses including DNA and RNA analyses and research on theonset of pathologic conditions in order to build a comprehensive data base.
Through this endeavor the center, with the cooperation of universities, will
promote research including the development of new diagnostic and therapeutic
methods, which it can then provide to PID patients and their physicians.

4. Overview of each company(1) Jeffrey Modell FoundationiJMFjFred and Vicki Modell established the Jeffrey Modell Foundation incommemoration of their son Jeffrey, who died at the age of 15 due to pneumonia
resulting from PID. The objective of the foundation is to establish early
appropriate diagnosis and effective methods of treatment for PID. In addition tothe center established in Japan, 36 Jeffrey Modell Diagnostic and ResearchCenters have been established in locations all over the world. Location: NewYork
Established: 1987 (Fred and Vicki Modell serve as founders.)(2) CSL Behring LLC
CSL Behring is one of the main sponsors of the JMF and is a global leader inblood plasma products made by extracting and purifying proteins found in bloodplasma. The founding of the company dates back to 1904, when Behringwerke
company was established by Dr. Emil von Behring of Germany, who won the firstNobel Prize for Physiology or Medicine. Headquarters: Pennsylvania, UnitedStatesPresident: Peter Turner(3) Kazusa DNA Research InstituteA research institute founded in 1991, Kazusa DNA Research Institute promotes
the creation of new business areas, the upgrading of industrial structures, andthe development of scientific technology. Its objectives are to contribute to thewelfare of humanity through analytical research into the structure of DNA, whichhouses all genetic material, research relating to the analytical technology of DNAstructure, research relating to the functions of DNA and its applications, and thecollection and provision of data relating to DNA.
Location: Kisarazu, Chiba
Director: Dr. Michio Oishi(4) Kazusa DNA Research Institute
Tsubasa-no Kai began as an advocacy group for PID patients and their families
in November 1991 after one mother of a PID patient wrote into a newspaper
appealing to others like herself associated with the same disease with whom shecould share conversation. Providing mutual support and collective strength, thegroup has continued its activities aimed at seeking society's understanding ofPID syndromes and improving and further developing systems for research andtreatment and the social security system in Japan.
Representative: Ms. Keiko Nagai

For more information, please contact:

Dr. Toshitada Takemori, Coordinator and Group Director
RIKEN Research Center for Allergy and Immunology (RCAI)
Tel : 045-503-7005 / Fax : 045-503-7053
Planning Section, Yokohama Research Promotion Division
Tel : 045-503-9117 / Fax : 045-503-9113

RIKEN Public Relations Office
Email: koho@riken.jp

Notes (supplementary information):
1. Jeffrey Modell Diagnostic and Research Centers
Altogether 36 centers have been established in locations all over the world.
Stars on the map below mark their locations.
2. Investigative

research

teamforInvestigative

ResearchonPrimary

Immunodeficiency Disease Syndrome, a research program of the Ministry ofHealth, Labour and Welfare for overcoming intractable diseases
Dr. Toshio Miyawaki, Director of the Medical Studies, University of Toyama is theteam leader.
At present, the following 13 universities are participating as members of theresearch investigation group in the joint research project in addition to RCAI andKazusa DNA Research Institute: University of Miyazaki, Gifu University, Nagoya

University, Kyushu University, Hiroshima University, Kanazawa University,
University of Toyama, Tokyo Medical & Dental University, Tohoku University,
Hokkaido University, Kyoto University, Shinshu University, National Defense
Medical College.
3. Anonymization of patients
Anonymization is the process whereby any and all information that might lead tothe identity of an individual such as the full name, address, telephone number,
hospital patient ID, etc. is eliminated

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