R24AI171055

USIDNET: A Resource for Clinical Immunologists - Abstract

The United States Immunodeficiency Network (USIDNET) has been continuously funded as a resource for clinical immunologists since 1992. It has evolved from single diagnosis registries to a panel of research resources. These resources include a robust diverse patient registry with quality of life, laboratory, and clinical features; patient cell lines; and a variety of educational efforts.

In 2017, the registry converted the data to SNOMED and LOINC terms, ushering in an era characterized by data standards and interoperability. Currently, the registry holds complex phenotype data on over 5000 patients with over 3000 discrete data fields. Genetic information is available on over 2000 patients.

Under a new funding mechanism, USIDNET is poised to further enhance resources by incorporating and improving the state of genetic diagnostics for inborn errors of immunity. The central goal is to serve as a nexus of information on genotype and phenotype. The USIDNET registry will continue to serve a critical need by defining phenotypes and propelling improved outcomes research with enhanced longitudinal data.

This evolution renders additional technical innovations possible in a manner that will serve community needs identified through discussion and a survey. The program has six aims, all derived from the central registry effort. The new registry will be anchored by a semi-automated data extraction from participating sites to maximize data standardization and longitudinal collection. Input of genetic data will be standardized, and next-generation sequencing will be offered to patients who otherwise cannot have sequencing, to improve the richness of genetic data in USIDNET and to nucleate a "matchmaking" effort.

The six aims are interwoven to support improved data and utilization. In Aim 1, a protocol for direct data extraction will be developed, which can be shared across institutions. Additionally, a single Institutional Review Board (IRB) will be instituted to facilitate regulatory compliance. Aim 2 focuses on developing improved guidance for registry utilization, providing statistical support for end users, and spearheading studies of high impact, as defined by the steering committee. Aim 3 proposes an innovative use of data to connect investigators who have similar patients through a specific matchmaking approach.

In Aim 4, USIDNET data will be utilized to augment efforts to enrich immunology HPO terms and ClinGen entries. Aim 5 aims to galvanize successful dissemination efforts, develop a newsletter with structured features to improve clarity, and enhance material on the USIDNET website. Lastly, Aim 6 aims to formalize mentoring efforts to strengthen the research skills of the next generation and provide career mentoring.

These resources will provide pivotal information for the immunology community at a time when the wealth of new monogenic inborn errors of immunity have made clinical decision-making far more complex and uncertain. This new R24 builds on previous successes in defining phenotypes in inborn errors of immunity, improves data collection, and utilizes the data in new ways to support the community.

The Children's Hospital Of Philadelphia

TO ASSIST PUBLIC AND PRIVATE NONPROFIT INSTITUTIONS AND INDIVIDUALS TO ESTABLISH, EXPAND AND IMPROVE BIOMEDICAL RESEARCH AND RESEARCH TRAINING IN INFECTIOUS DISEASES AND RELATED AREAS, TO CONDUCT DEVELOPMENTAL RESEARCH, TO PRODUCE AND TEST RESEARCH MATERIALS. TO ASSIST PUBLIC, PRIVATE AND COMMERCIAL INSTITUTIONS TO CONDUCT DEVELOPMENTAL RESEARCH, TO PRODUCE AND TEST RESEARCH MATERIALS, TO PROVIDE RESEARCH SERVICES AS REQUIRED BY THE AGENCY FOR PROGRAMS IN INFECTIOUS DISEASES, AND CONTROLLING DISEASE CAUSED BY INFECTIOUS OR PARASITIC AGENTS, ALLERGIC AND IMMUNOLOGIC DISEASES AND RELATED AREAS. PROJECTS RANGE FROM STUDIES OF MICROBIAL PHYSIOLOGY AND ANTIGENIC STRUCTURE TO COLLABORATIVE TRIALS OF EXPERIMENTAL DRUGS AND VACCINES, MECHANISMS OF RESISTANCE TO ANTIBIOTICS AS WELL AS RESEARCH DEALING WITH EPIDEMIOLOGICAL OBSERVATIONS IN HOSPITALIZED PATIENTS OR COMMUNITY POPULATIONS AND PROGRESS IN ALLERGIC AND IMMUNOLOGIC DISEASES. BECAUSE OF THIS DUAL FOCUS, THE PROGRAM ENCOMPASSES BOTH BASIC RESEARCH AND CLINICAL RESEARCH. SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM EXPANDS AND IMPROVES PRIVATE SECTOR PARTICIPATION IN BIOMEDICAL RESEARCH. THE SBIR PROGRAM INTENDS TO INCREASE AND FACILITATE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, TO INCREASE SMALL BUSINESS PARTICIPATION IN FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM STIMULATES AND FOSTERS SCIENTIFIC AND TECHNOLOGICAL INNOVATION THROUGH COOPERATIVE RESEARCH AND DEVELOPMENT CARRIED OUT BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO FOSTER TECHNOLOGY TRANSFER BETWEEN SMALL BUSINESS CONCERNS AND RESEARCH INSTITUTIONS, TO INCREASE PRIVATE SECTOR COMMERCIALIZATION OF INNOVATIONS DERIVED FROM FEDERAL RESEARCH AND DEVELOPMENT, AND TO FOSTER AND ENCOURAGE PARTICIPATION OF SOCIALLY AND ECONOMICALLY DISADVANTAGED SMALL BUSINESS CONCERNS AND WOMEN-OWNED SMALL BUSINESS CONCERNS IN TECHNOLOGICAL INNOVATION. RESEARCH CAREER DEVELOPMENT AWARDS SUPPORT THE DEVELOPMENT OF SCIENTISTS DURING THE FORMATIVE STAGES OF THEIR CAREERS. INDIVIDUAL NATIONAL RESEARCH SERVICE AWARDS (NRSAS) ARE MADE DIRECTLY TO APPROVE APPLICANTS FOR RESEARCH TRAINING IN SPECIFIED BIOMEDICAL SHORTAGE AREAS. IN ADDITION, INSTITUTIONAL NATIONAL RESEARCH SERVICE AWARDS ARE MADE TO ENABLE INSTITUTIONS TO SELECT AND MAKE AWARDS TO INDIVIDUALS TO RECEIVE TRAINING UNDER THE AEGIS OF THEIR INSTITUTIONAL PROGRAM.

93.855 - Allergy and Infectious Diseases Research

National Institute of Allergy and Infectious Diseases (NIAID) [HHS - NIH]

Philadelphia, Pennsylvania 191462305 United States

Single Zip Code

NIAID Resource-Related Research Projects (R24 Clinical Trial Not Allowed) (PAR-20-063)

Amendment Since initial award the total obligations have increased 313% from $1,349,311 to $5,578,391.