# Privacy-Preserving Connectivity for Rare-Disease Patients

> **NIH NIH R42** · GENEIAL LLC · 2022 · $349,997

## 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.

## Key facts

- **NIH application ID:** 10378819
- **Project number:** 1R42HG012288-01
- **Recipient organization:** GENEIAL LLC
- **Principal Investigator:** Adam Wesley Hansen
- **Activity code:** R42 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $349,997
- **Award type:** 1
- **Project period:** 2022-09-01 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10378819

## Citation

> US National Institutes of Health, RePORTER application 10378819, Privacy-Preserving Connectivity for Rare-Disease Patients (1R42HG012288-01). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10378819. Licensed CC0.

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