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NIH Funds Decentralized Rare Disease Data Network


(Gerd Altmann, Pixabay.

23 Sept. 2022. A start-up company is building a secure decentralized network of genomic and other medical data on rare diseases, funded by a fast-track award from an NIH agency. Geneial LLC, a two year-old enterprise in Houston, is receiving an initial $350,000 grant from the National Human Genome Research Institute or NHGRI, part of National Institutes of Health, that’s expected to reach $2.3 million by the project’s end.

Geneial is developing a platform for secure data sharing among researchers studying rare diseases. Almost by definition, rare diseases involve small research efforts and samples, often scattered and independent. These data, such as genomic sequences and health records of individuals with rare diseases and their families, can help advance understanding of their conditions and design of treatments. Yet maintaining and exchanging data on rare diseases still calls for meeting stringent privacy and security requirements under laws in the U.S. and most other advanced countries.

Geneial aims to provide a technology for researchers in rare genetic diseases to aggregate their data sets and collaborate on creating precision diagnostics and therapies. The company’s system is based on so-called Web3 networking, a decentralized Internet technology using blockchain processes to enable encrypted data exchanges without trusted third parties such as encryption keys in conventional methods.

Blockchain captures data about transactions in a networked ledger, but with data distributed among various parties to the transactions. Individual transaction data are broken into blocks, with each block connected in a chain. The blocks are also individually time-stamped and encrypted with an algorithm giving them unique identifiers, also linked mathematically to the previous blocks in the chain. Linking uniquely identified and encrypted blocks in this way ensures integrity of the data and protects the data from hacking.

Community engagement platform

Geneial’s founder Adam Hansen designed a prototype decentralized secure network for rare disease research while earning a Ph.D. in genetics at Baylor College of Medicine in Houston. Working with Baylor’s Human Genome Sequencing Center, Hansen applied the technology to create a registry of Xia-Gibbs syndrome patients for prompting research on that rare disease. Xia-Gibbs syndrome or XGS is a genetic neurological condition marked by weak muscle tone, intellectual disability, and delayed development, resulting from in mutations of the AHDC1 gene. It’s considered a very rare disease, with only the first four cases discovered in 2014 at Baylor. The registry developed by Hansen is now maintained by the Xia-Gibbs Society.

The NHGRI award supports development of a “community engagement platform” based on the XGS patient registry to make possible shareable and interoperable data on rare diseases that researchers can find, access, and reuse. The project calls for starting with the XGS registry to prove the concept of a decentralized secure data network that can be generalized to other rare diseases. In the second phase of the project. Geneial plans to expand the design to two more rare disease communities and research data sets.

“Over 400 million individuals worldwide suffer from a rare disease,” says Hansen in a Geneial statement, “yet only five percent of these have an available treatment. This is largely because data is highly fragmented across silos, which impedes the progress of research and therapeutic development.”

The NHGRI grant is made under NIH’s small business programs that set aside a part of the agency’s research funding for U.S.-based and owned companies. This grant uses a special mechanism called a small business transition grant for early career scientists that both encourages entrepreneurship among new scientists, and also promotes technology transfer from academic labs to business. NIH says it’s a new mechanism, begun in 2021, and combines the usual two steps in small business grants, prototype and scale-up, into a single fast-track award.

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