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Precise Length and 5-Methylcytosine Assessments of Repeat Sequences

Award Number: R43HG011561
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/10/2021
PERIOD OF PERFORMANCE END DATE: 04/30/2023

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Precise Length and 5-Methylcytosine Assessments of Repeat Sequences - Project Summary During this program, Electronic BioSciences, Inc. (EBS) will develop and demonstrate a complete, end-to-end, universal methodology for repeat sequence characterization, including precise length and methylation (5- methylcytosine or 5mC) assessments. This technology will be enabled by the development and demonstration of a sequence-targeted sample and library preparation that will enable the isolation and enrichment of any repeat sequence with a known sequential context or loci for disease-specific diagnostics. Specifically, satellite DNA is comprised of sequence repeats that occur in tandem 5 or more times. Among this DNA, microsatellites have a 1–10 nucleotide (nt) repeat pattern and minisatellites have a >10-nt long repeat pattern. A specific type of satellite DNA found in coding regions of the genome are repeat expansions. Increases in repeat sequence length and epigenetic 5mC status have been correlated to a number of diseases, including Myotonic Dystrophy, Huntington’s Disease, Friedreich’s Ataxia, Fragile X, Fragile XE, Amyotrophic Lateral Sclerosis or ALS, etc., and the targeted characterization of these regions would represent a direct approach (relative to whole genome sequencing) towards clinical and point-of-care diagnostics. However, there is no technology presently available that is ideally suited for characterizing these repeat sequences as a result of read length (associated with next generation sequencing approaches) or accuracy (associated with third generation sequencing approaches), which has significantly limited the understanding of the role repeat sequences have in disease states, their diagnostic/prognostic utility, and the development of associated assays. During this Phase I SBIR program, EBS will develop and demonstrate a technology that will allow these regions to be efficiently assessed for disease state diagnostics.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2024 ( Subtotal = $0 )
2024	2021	ELECTRONIC BIOSCIENCES, INC.	5754 PACIFIC CENTER BLVD STE 204	SAN DIEGO	CA	92121	SAN DIEGO	USA	Human Genome Research	000	1	12/12/2023	NEW	$0
														Subtotal = $0

Issue Date FY: 2021 ( Subtotal = $271,933 )
2021	2021	ELECTRONIC BIOSCIENCES, INC.	5754 PACIFIC CTR BLVD STE 204	SAN DIEGO	CA	92121	SAN DIEGO	USA	Human Genome Research	000	1	5/10/2021	NEW	$271,933
														Subtotal = $271,933

Grand Total All Awards = $271,933

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Precise Length and 5-Methylcytosine Assessments of Repeat Sequences

Award Number: R43HG011561

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 05/10/2021

PERIOD OF PERFORMANCE END DATE: 04/30/2023

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