NIH to use Oxford Nanopore’s PromethION in Alzheimer’s and related dementias research

Scientists at the National Institutes of Health’s new intramural research effort, the Center for Alzheimer's and Related Dementias (CARD), have purchased Oxford Nanopore’s PromethION devices for use in expanded Alzheimer’s and related dementias research.

Using PromethION, CARD researchers will generate long-read sequencing data from roughly 4000 patients with Alzheimer’s disease, frontotemporal dementia, Lewy body dementia, and healthy subjects.

Using Oxford Nanopore’s sequencing technology, researchers will be able to gain greater insight into challenging regions of the genome which could play a role in driving Alzheimer’s disease and related dementias’ pathology, at a scale not seen before.

With this research, the aim is to build a public resource consisting of long-read genome sequencing data from a large number of confirmed people with Alzheimer's disease and related dementias and healthy individuals.

Long and ultra-long reads can span large and complex regions of the genome, including homologous elements, highly GC-rich regions, centromeric regions, and telomeres.

Methylation changes and single nucleotide variants have previously been linked to normal aging and neurodegenerative diseases. Nanopore sequencing is the only approach to enable direct, conversion-free detection of methylation changes across the whole genome, and the generation of long reads makes phasing of modifications and SNVs simpler.

Using PromethION, the team will be aiming to build a more comprehensive picture of the genome across thousands of samples, to understand the epigenetic and genomic landscape in challenging regions contributing to the development of neurodegenerative diseases. The results, which will be shared openly, will help to inform the development of effective treatments.

Gordon Sanghera, CEO Oxford Nanopore Technologies said:

“We’re delighted to be supporting this important project from the NIH, to further understand the genomic changes that occur in Alzheimer’s and dementia, at unprecedented scale.”

PromethION 48 is Oxford Nanopore’s highest throughput device – from a single flow cell (of which there are 48), it is possible to sequence a whole human genome to high coverage, with the benefit of being able to scale this up to meet the demands of the experiment.

Once the sequencing is complete, the raw and processed data will be made publicly available to the scientific community to encourage collaborative analysis of the results.


Find out more about PromethION

Find out more about human genomics using nanopore technology

This content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.