R44HG012288
Project Grant
Overview
Grant Description
Privacy-preserving connectivity for rare-disease patients - Abstract / Summary
Safeguarding privacy of data assets – while simultaneously facilitating data sharing and exchange – is paramount to sustaining the value creation of genomics for precision medicine and population health.
One of the most significant challenges for Xia-Gibbs Syndrome (XGS) research and rare disease studies in general is the lack of integrated, privacy-preserving platforms to facilitate efficient patient recruitment and data sharing.
Rare disease datasets are fragmented, incomplete, and sparse. These barriers to data accessibility prevent efficient data aggregation, translation to clinical benefits, and disease promotion to the global patient and scientific communities.
Without data sharing mechanisms that align incentives while preserving security and privacy, fragmented and siloed data will severely limit the value of genomic medicine in the future.
We aim to address these issues by designing and developing components enabling a computationally feasible privacy-preserving rare disease community engagement platform, emphasizing FAIR (Findable, Accessible, Interoperable, Reusable) data principles.
Specifically, we will deploy innovative cryptography technologies in the context of a web application streamlining interaction, data exchange, and analysis between patients, advocacy groups, researchers, and therapeutic developers.
Building on our current secure, HIPAA-compliant infrastructure, in Phase I of this fast-track proposal we will onboard our existing XGS registry to establish proof-of-concept while ensuring the platform is readily generalizable to other rare diseases.
In Phase II, as we onboard two additional rare disease communities, we will implement software optimizations and GPU-acceleration to ensure the platform can scale to a data privacy- and ownership-preserving engagement platform and registry applicable to all rare disease communities and datasets.
Ultimately, the approaches developed here will allow researchers and therapeutic developers expanded ability to search for and retrieve essential patient data for rare disease research.
We anticipate the creation of such a tool will accelerate the growth of rare disease registries worldwide, creating positive externalities benefitting the entire industry by enabling widespread access to previously inaccessible data.
Safeguarding privacy of data assets – while simultaneously facilitating data sharing and exchange – is paramount to sustaining the value creation of genomics for precision medicine and population health.
One of the most significant challenges for Xia-Gibbs Syndrome (XGS) research and rare disease studies in general is the lack of integrated, privacy-preserving platforms to facilitate efficient patient recruitment and data sharing.
Rare disease datasets are fragmented, incomplete, and sparse. These barriers to data accessibility prevent efficient data aggregation, translation to clinical benefits, and disease promotion to the global patient and scientific communities.
Without data sharing mechanisms that align incentives while preserving security and privacy, fragmented and siloed data will severely limit the value of genomic medicine in the future.
We aim to address these issues by designing and developing components enabling a computationally feasible privacy-preserving rare disease community engagement platform, emphasizing FAIR (Findable, Accessible, Interoperable, Reusable) data principles.
Specifically, we will deploy innovative cryptography technologies in the context of a web application streamlining interaction, data exchange, and analysis between patients, advocacy groups, researchers, and therapeutic developers.
Building on our current secure, HIPAA-compliant infrastructure, in Phase I of this fast-track proposal we will onboard our existing XGS registry to establish proof-of-concept while ensuring the platform is readily generalizable to other rare diseases.
In Phase II, as we onboard two additional rare disease communities, we will implement software optimizations and GPU-acceleration to ensure the platform can scale to a data privacy- and ownership-preserving engagement platform and registry applicable to all rare disease communities and datasets.
Ultimately, the approaches developed here will allow researchers and therapeutic developers expanded ability to search for and retrieve essential patient data for rare disease research.
We anticipate the creation of such a tool will accelerate the growth of rare disease registries worldwide, creating positive externalities benefitting the entire industry by enabling widespread access to previously inaccessible data.
Awardee
Funding Goals
NOT APPLICABLE
Grant Program (CFDA)
Awarding / Funding Agency
Place of Performance
Missouri City,
Texas
774591868
United States
Geographic Scope
Single Zip Code
Related Opportunity
Analysis Notes
Amendment Since initial award the total obligations have increased 100% from $1,000,000 to $2,000,000.
Geneial was awarded
Project Grant R44HG012288
worth $2,000,000
from National Human Genome Research Institute in September 2022 with work to be completed primarily in Missouri City Texas United States.
The grant
has a duration of 2 years 9 months and
was awarded through assistance program 93.172 Human Genome Research.
The Project Grant was awarded through grant opportunity Small Business Transition Grant For Early Career Scientists (R42 Clinical Trial Not Allowed).
SBIR Details
Research Type
SBIR Phase II
Title
Privacy-Preserving Connectivity for Rare-Disease Patients
Abstract
Abstract / Summary Safeguarding privacy of data assets – while simultaneously facilitating data sharing and exchange – is paramount to sustaining the value creation of genomics for precision medicine and population health. One of the most significant challenges for Xia-Gibbs Syndrome (XGS) research and rare disease studies in general is the lack of integrated, privacy-preserving platforms to facilitate efficient patient recruitment and data sharing. Rare disease datasets are fragmented, incomplete, and sparse. These barriers to data accessibility prevent efficient data aggregation, translation to clinical benefits, and disease promotion to the global patient and scientific communities. Without data sharing mechanisms that align incentives while preserving security and privacy, fragmented and siloed data will severely limit the value of genomic medicine in the future. We aim to address these issues by designing and developing components enabling a computationally feasible privacy-preserving rare disease community engagement platform, emphasizing FAIR (findable, accessible, interoperable, reusable) data principles. Specifically, we will deploy innovative cryptography technologies in the context of a web application streamlining interaction, data exchange, and analysis between patients, advocacy groups, researchers, and therapeutic developers. Building on our current secure, HIPAA-compliant infrastructure, in Phase I of this fast-track proposal we will onboard our existing XGS Registry to establish proof-of-concept while ensuring the platform is readily generalizable to other rare diseases. In Phase II, as we onboard two additional rare disease communities, we will implement software optimizations and GPU-acceleration to ensure the platform can scale to a data privacy- and ownership-preserving engagement platform and registry applicable to all rare disease communities and datasets. Ultimately, the approaches developed here will allow researchers and therapeutic developers expanded ability to search for and retrieve essential patient data for rare disease research. We anticipate the creation of such a tool will accelerate the growth of rare disease registries worldwide, creating positive externalities benefitting the entire industry by enabling widespread access to previously inaccessible data.
Topic Code
172
Solicitation Number
CA21-001
Status
(Ongoing)
Last Modified 7/19/24
Period of Performance
9/1/22
Start Date
6/30/25
End Date
Funding Split
$2.0M
Federal Obligation
$0.0
Non-Federal Obligation
$2.0M
Total Obligated
Activity Timeline
Transaction History
Modifications to R44HG012288
Additional Detail
Award ID FAIN
R44HG012288
SAI Number
R44HG012288-2058678588
Award ID URI
SAI UNAVAILABLE
Awardee Classifications
Small Business
Awarding Office
75N400 NIH NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Funding Office
75N400 NIH NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Awardee UEI
RG9ZC5CLCH56
Awardee CAGE
8Q2P3
Performance District
TX-22
Senators
John Cornyn
Ted Cruz
Ted Cruz
Budget Funding
| Federal Account | Budget Subfunction | Object Class | Total | Percentage |
|---|---|---|---|---|
| National Human Genome Research Institute, National Institutes of Health, Health and Human Services (075-0891) | Health research and training | Grants, subsidies, and contributions (41.0) | $1,000,000 | 100% |
Modified: 7/19/24