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Functional Characterization of Genetic Variants in Rare Disease Associated with Shoc2 scaffold

Award Number: R01HD118715
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/01/2025
PERIOD OF PERFORMANCE END DATE: 01/31/2030

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Functional Characterization of Genetic Variants in Rare Disease Associated with Shoc2 scaffold - Summary Mutations in the Shoc2 gene result in a developmental disorder called Noonan syndrome with loose anagen hair (NSLH), a condition affecting craniofacial features, the heart, the digestive system, and neural development. The Shoc2 is essential for transmitting the ERK1/2 cascade signals that control the morphogenesis of neural crest-derived tissues. Shoc2 forms intricate protein complexes to amplify intracellular signals, regulate the distribution of signaling proteins, and control gene expression programs during cell lineage specification. This application is led by the notion that functional analyses of different Shoc2 variants of unknown significance identified in patients with birth defects will give important insights into the mechanisms by which these pathogenic variants affect cell differentiation and how these alterations lead to the variety of phenotypes observed in NSLH patients. We will use a zebrafish vertebrate model carrying patient variants to gain insights into the molecular and cellular processes altered by Shoc2 variants in neural crest-derived lineages. This study will also examine how these variants impact Shoc2's function by dissecting its interactions with other proteins and its localization within cells using biochemical and biophysical approaches. Results from this work will fill an essential gap in our understanding of the fundamental principles by which alterations of different aspects of signal transmission result in human disease with variable phenotypic outcomes. This work will also have a broader impact on elucidating the importance of cell signaling mechanisms in craniofacial morphogenesis.


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 = $368,136 )
2026	2026	UNIVERSITY OF KENTUCKY RESEARCH FOUNDATION, THE	500 S LIMESTONE	LEXINGTON	KY	40526	FAYETTE	USA	Child Health and Human Development Extramural Research	000	2	1/23/2026	NON-COMPETING CONTINUATION	$368,136
														Subtotal = $368,136

Issue Date FY: 2025 ( Subtotal = $419,204 )
2025	2025	UNIVERSITY OF KENTUCKY RESEARCH FOUNDATION, THE	500 S LIMESTONE	LEXINGTON	KY	40526	FAYETTE	USA	Child Health and Human Development Extramural Research	000	1	4/10/2025	NEW	$419,204
														Subtotal = $419,204

Grand Total All Awards = $787,340

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Functional Characterization of Genetic Variants in Rare Disease Associated with Shoc2 scaffold

Award Number: R01HD118715

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 05/01/2025

PERIOD OF PERFORMANCE END DATE: 01/31/2030

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