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Novel Pathogenic Mechanisms of Joubert Syndrome

Award Number: R01EY036685
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/01/2025
PERIOD OF PERFORMANCE END DATE: 03/31/2030

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Novel Pathogenic Mechanisms of Joubert Syndrome - ABSTRACT Inherited retinal degeneration is a leading cause of irreversible blindness in children. There is currently no effective therapy for any of these diseases except RPE65. The systemic manifestations of the syndromic forms of ciliary degeneration make them a particularly challenging form of the inherited retinal degeneration family to treat. Joubert syndrome is a rare inherited form of retinal degeneration in which patients die prematurely and which has specific defects localized to the connecting cilium of photoreceptors. ARMC9 is a recently discovered gene that has been implicated in Joubert syndrome. This application seeks to identify the mechanism underlying the interplay between the loss of ARMC9 and impaired mitochondrial function in cilia formation. We have strong preliminary data supporting a novel link between mitochondrial function and ciliogenesis. We hypothesize that augmentation of mitochondrial function in ARMC9 mutations will rescue the loss of function. We aim to (1) dissect the mechanism by which mitochondrial proteins contribute to ARMC9 localization, (2) determine whether NMNAT overexpression rescues the loss of ARMC9, (3) determine whether CRISPR-mediated gene editing of ARMC9 restores photoreceptor formation in human iPSC-organoids. These studies will further our understanding of mitochondrial and ciliary function and facilitate the discovery of new therapies for ciliary disorders, including photoreceptor degeneration.


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 = $671,945 )
2026	2026	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Vision Research	000	2	5/5/2026	NON-COMPETING CONTINUATION	$671,945
														Subtotal = $671,945

Issue Date FY: 2025 ( Subtotal = $698,827 )
2025	2025	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Vision Research	000	1	7/21/2025	NEW	$698,669
2025	2025	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Vision Research	001	1	9/5/2025	NEW	$158
														Subtotal = $698,827

Grand Total All Awards = $1,370,772

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Novel Pathogenic Mechanisms of Joubert Syndrome

Award Number: R01EY036685

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 08/01/2025

PERIOD OF PERFORMANCE END DATE: 03/31/2030

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