U01NS134358

Center for Undiagnosed Diseases at Stanford - Project Summary

The Center for Undiagnosed Diseases at Stanford, a member site of the Undiagnosed Diseases Network, works to improve the lives of patients with undiagnosed and rare diseases and their families. The center is focused on the efficient and sustainable implementation of cutting-edge methods for diagnosis. We pioneer the use of new molecular diagnostics and analytic strategies to investigate the most challenging cases.

In parallel with pursuing diagnostic advances, we seek to more deeply understand the needs and experience of the undiagnosed patient community to inform the implementation of best practices concerning participant experience and the inclusion of historically underserved populations. The impacts of underinsurance and reduced access to subspecialty care and advanced diagnostics fall disproportionately on underserved populations, making it critical to undertake outreach in rare disease studies.

The Center for Undiagnosed Diseases (CUD) at Stanford will continue our efforts toward sustainability, refinement of methods, and integration with clinical practice. Here, we propose a program of study that will:

1. Facilitate accurate diagnosis of patients with undiagnosed diseases, with emphasis on those without or with limited insurance, economic or language barriers.
2. Use novel approaches in data analysis and integration of different 'omes to improve diagnostic rates.
3. Enhance our understanding of the impact of diversity on the diagnostic process.

In Aim 1, we focus on enhancing the recruitment of diverse participants. We propose to enroll and evaluate a new cohort of patients. This will include phenotypic assessment and biosample collection to facilitate genomic, multi-omic, and cellular disease evaluation. We are expanding our local patient advocacy partnerships, including a local UDN peer group.

In Aim 2, we advance methods and technologies to enhance diagnostic yield that have not yet crossed the translational divide. We leverage transcriptomics, metabolomics, long-read sequencing, and immunomics to uncover diagnoses and mechanisms in undiagnosed participants. We apply novel computational approaches for systematic integration of multiomic and phenotypic data with the entire medical literature to improve diagnostic yield.

In Aim 3, we focus on sustainability by promoting regional partnerships to promote the participation of historically underserved populations in the study. This work will encompass expanded outreach and education. We additionally will systematically investigate participant experience encompassing patient-reported outcomes to best understand the value of the network to the patient community. This work will inform our practices and contribute to the evidence base necessary to support continued and expanded stakeholder investment in the UDN.

The Leland Stanford Junior University

(1) TO SUPPORT EXTRAMURAL RESEARCH FUNDED BY THE NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE (NINDS) INCLUDING: BASIC RESEARCH THAT EXPLORES THE FUNDAMENTAL STRUCTURE AND FUNCTION OF THE BRAIN AND THE NERVOUS SYSTEM, RESEARCH TO UNDERSTAND THE CAUSES AND ORIGINS OF PATHOLOGICAL CONDITIONS OF THE NERVOUS SYSTEM WITH THE GOAL OF PREVENTING THESE DISORDERS, RESEARCH ON THE NATURAL COURSE OF NEUROLOGICAL DISORDERS, IMPROVED METHODS OF DISEASE PREVENTION, NEW METHODS OF DIAGNOSIS AND TREATMENT, DRUG DEVELOPMENT, DEVELOPMENT OF NEURAL DEVICES, CLINICAL TRIALS, AND RESEARCH TRAINING IN BASIC, TRANSLATIONAL AND CLINICAL NEUROSCIENCE. THE INSTITUTE IS THE LARGEST FUNDER OF BASIC NEUROSCIENCE IN THE US AND SUPPORTS RESEARCH ON TOPICS INCLUDING BUT NOT LIMITED TO: DEVELOPMENT OF THE NERVOUS SYSTEM, INCLUDING NEUROGENESIS AND PROGENITOR CELL BIOLOGY, SIGNAL TRANSDUCTION IN DEVELOPMENT AND PLASTICITY, AND PROGRAMMED CELL DEATH, SYNAPSE FORMATION, FUNCTION, AND PLASTICITY, LEARNING AND MEMORY, CHANNELS, TRANSPORTERS, AND PUMPS, CIRCUIT FORMATION AND MODULATION, BEHAVIORAL AND COGNITIVE NEUROSCIENCE, SENSORIMOTOR LEARNING, INTEGRATION AND EXECUTIVE FUNCTION, NEUROENDOCRINE SYSTEMS, SLEEP AND CIRCADIAN RHYTHMS, AND SENSORY AND MOTOR SYSTEMS. IN ADDITION, THE INSTITUTE SUPPORTS BASIC, TRANSLATIONAL AND CLINICAL STUDIES ON A NUMBER OF DISORDERS OF THE NERVOUS SYSTEM INCLUDING (BUT NOT LIMITED TO): STROKE, TRAUMATIC INJURY TO THE BRAIN, SPINAL CORD AND PERIPHERAL NERVOUS SYSTEM, NEURODEGENERATIVE DISORDERS, MOVEMENT DISORDERS, BRAIN TUMORS, CONVULSIVE DISORDERS, INFECTIOUS DISORDERS OF THE BRAIN AND NERVOUS SYSTEM, IMMUNE DISORDERS OF THE BRAIN AND NERVOUS SYSTEM, INCLUDING MULTIPLE SCLEROSIS, DISORDERS RELATED TO SLEEP, AND PAIN. PROGRAMMATIC AREAS, WHICH ARE PRIMARILY SUPPORTED BY THE DIVISION OF NEUROSCIENCE, ARE ALSO SUPPORTED BY THE DIVISION OF EXTRAMURAL ACTIVITIES, THE DIVISION OF TRANSLATIONAL RESEARCH, THE DIVISION OF CLINICAL RESEARCH, THE OFFICE OF TRAINING AND WORKFORCE DEVELOPMENT, THE OFFICE OF PROGRAMS TO ENHANCE NEUROSCIENCE WORKFORCE DEVELOPMENT, AND THE OFFICE OF INTERNATIONAL ACTIVITIES. (2) TO EXPAND AND IMPROVE THE SMALL BUSINESS INNOVATION RESEARCH (SBIR) PROGRAM, TO INCREASE 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. TO UTILIZE THE SMALL BUSINESS TECHNOLOGY TRANSFER (STTR) PROGRAM, TO STIMULATE AND FOSTER 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.

93.173 - Research Related to Deafness and Communication Disorders

National Institute of Neurological Disorders and Stroke (NNDS) [HHS - NIH]

National Institute on Deafness and Other Communication Disorders (NIDCD) [HHS - NIH]

Stanford, California 94305 United States

Single Zip Code

Diagnostic Centers of Excellence for the Undiagnosed Diseases Network (U01 Clinical Trial Not Allowed) (PAR-23-289)

Amendment Since initial award the End Date has been extended from 04/30/24 to 07/31/28 and the total obligations have increased 366% from $596,270 to $2,780,459.