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Characterizing genetic modifiers in tumor burden of Tuberous Sclerosis Complex

Award Number: K00CA245821
ORGANIZATION: NATIONAL CANCER INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 03/01/2021
PERIOD OF PERFORMANCE END DATE: 11/27/2024

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Characterizing genetic modifiers in tumor burden of Tuberous Sclerosis Complex - PROJECT SUMMARY Tuberous Sclerosis Complex (TSC) is a genetic syndrome that predisposes patients to tumor formation and is often diagnosed during infancy. Brain lesions, including subependymal giant cell astrocytoma (SEGA) and cortical tubers, occur in ~20% of TSC patients and remain challenging to manage as there is extreme phenotypic heterogeneity. In order to better understand and surveil which patients are likely to develop severe brain lesions and associated treatment-resistant epilepsy, this project aims to understand the genotype-phenotype relationships of TSC. I hypothesize that the severity of tumor burden in TSC patients is associated with (and can be predicted by) mutations in specific genetic modifiers. I aim to (1) characterize genetic modifiers that associate with SEGA and cortical tubers and (2) establish biological consequences of mutations in DNA damage repair genes that we have identified in patients with TSC. The research and training plans here are designed to expose me to translational and clinical research studies, analysis of patient -omics data, implementation of CRISPR/Cas9 genome editing, use of two- and three-dimensional human cell models, and metabolic profiling. These skills and the training I receive in this career phase will be essential for my future career as an independent researcher.


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: 2025 ( Subtotal = -$35,840 )
2025	2024	MICHIGAN STATE UNIVERSITY	426 AUDITORIUM RD RM 2	EAST LANSING	MI	48824	INGHAM	USA	Cancer Cause and Prevention Research	000	6	2/12/2025	NON-COMPETING CONTINUATION	$0
2025	2024	MICHIGAN STATE UNIVERSITY	426 AUDITORIUM RD RM 2	EAST LANSING	MI	48824	INGHAM	USA	Cancer Cause and Prevention Research	001	6	4/3/2025	NON-COMPETING CONTINUATION	-$35,840
														Subtotal = -$35,840

Issue Date FY: 2024 ( Subtotal = $110,354 )
2024	2024	MICHIGAN STATE UNIVERSITY	426 AUDITORIUM RD RM 2	EAST LANSING	MI	48824	INGHAM	USA	Cancer Cause and Prevention Research	001	6	8/12/2024	NON-COMPETING CONTINUATION	$6,880
2024	2024	MICHIGAN STATE UNIVERSITY	426 AUDITORIUM RD RM 2	EAST LANSING	MI	48824	INGHAM	USA	Cancer Cause and Prevention Research	000	6	1/23/2024	NON-COMPETING CONTINUATION	$103,474
														Subtotal = $110,354

Issue Date FY: 2023 ( Subtotal = $91,562 )
2023	2023	MICHIGAN STATE UNIVERSITY	426 AUDITORIUM RD RM 2	EAST LANSING	MI	48824	INGHAM	USA	Cancer Cause and Prevention Research	000	5	2/28/2023	NON-COMPETING CONTINUATION	$91,562
														Subtotal = $91,562

Issue Date FY: 2022 ( Subtotal = $87,196 )
2022	2022	MICHIGAN STATE UNIVERSITY	426 AUDITORIUM RD RM 2	EAST LANSING	MI	48824	INGHAM	USA	Cancer Cause and Prevention Research	000	4	3/1/2022	NON-COMPETING CONTINUATION	$87,196
														Subtotal = $87,196

Issue Date FY: 2021 ( Subtotal = $84,480 )
2021	2021	MICHIGAN STATE UNIVERSITY	426 AUDITORIUM RD RM 2	EAST LANSING	MI	48824	INGHAM	USA	Cancer Cause and Prevention Research	000	3	2/24/2021	EXTENSION WITH OR WITHOUT FUNDS	$84,480
														Subtotal = $84,480

Grand Total All Awards = $337,752

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Characterizing genetic modifiers in tumor burden of Tuberous Sclerosis Complex

Award Number: K00CA245821

ORGANIZATION: NATIONAL CANCER INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 03/01/2021

PERIOD OF PERFORMANCE END DATE: 11/27/2024

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