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C9orf72-mediated features, transcriptomic signatures, and translational studies for frontotemporal dementia and related disorders

Award Number: RF1NS123052
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/15/2022
PERIOD OF PERFORMANCE END DATE: 05/31/2025

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C9orf72-mediated features, transcriptomic signatures, and translational studies for frontotemporal dementia and related disorders - PROJECT SUMMARY/ABSTRACT We seek to perform in-depth characterization studies to unravel the clinico-pathological variability associated with frontotemporal dementia (FTD) and related neurodegenerative diseases caused by an expanded repeat in the C9orf72-SMCR8 complex subunit (C9orf72). To this end, we will examine a range of neuroanatomical regions (e.g., frontal cortex, temporal cortex, motor cortex, spinal cord, and cerebellum) and span the full spectrum from frontotemporal lobar degeneration (FTLD) – a neuropathological diagnosis of FTD – to amyotrophic lateral sclerosis (ALS). For each region, we will assess features of C9orf72-linked diseases, such as levels of C9orf72 transcripts, RNA foci, and dipeptide repeat proteins (Aim 1). Moreover, we will use an innovative targeted long-read sequencing technology to measure the size, purity, and methylation status of the expanded repeat. Additionally, we will perform whole-tissue RNA sequencing to detect overall changes in a complex context, basically taking a snapshot (Aim 2). This data will be accompanied by single-nuclei transcriptomic data to acquire gene expression levels while deciphering the cellular diversity encountered in the central nervous system. Since splicing defects have been reported in C9orf72-related diseases, we will combine short- and long-read sequencing strategies. The inclusion of long-read sequencing data creates the opportunity to obtain the full-length transcriptome with highly accurate splice junctions, even for large transcripts. These combined approaches, therefore, will enable us to capture the entire landscape of transcriptomic changes. Top hits identified through our in-depth transcriptomic studies will be further investigated in our extensive collection of clinical and pathological specimens and tested as potential biomarkers. Taken together, our detailed examinations will uncover crucial region- and disease-specific similarities and/or differences, thus laying the foundation for improved understanding of the heterogeneity associated with the FTLD-ALS spectrum and the identification of disease modifiers, translatable biomarkers, and therapeutic targets.


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: 2026 ( Subtotal = $0 )
2026	2022	MAYO CLINIC JACKSONVILLE (A NONPROFIT CORPORATION)	4500 SAN PABLO RD S	JACKSONVILLE	FL	32224	DUVAL	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	2/23/2026	NEW	$0
														Subtotal = $0

Issue Date FY: 2022 ( Subtotal = $2,351,241 )
2022	2022	MAYO CLINIC JACKSONVILLE (A NONPROFIT CORPORATION)	4500 SAN PABLO RD S	JACKSONVILLE	FL	32224	DUVAL	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	6/1/2022	NEW	$2,351,241
														Subtotal = $2,351,241

Grand Total All Awards = $2,351,241

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C9orf72-mediated features, transcriptomic signatures, and translational studies for frontotemporal dementia and related disorders

Award Number: RF1NS123052

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 06/15/2022

PERIOD OF PERFORMANCE END DATE: 05/31/2025

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