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Cellular mechanisms of MYO7A in the retina

Award Number: R01EY037534
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 04/15/2026
PERIOD OF PERFORMANCE END DATE: 03/31/2030

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Cellular mechanisms of MYO7A in the retina - PROJECT SUMMARY / ABSTRACT Proposed experiments in this multiple-PI application address the retinal functions of MYO7A, which when mutated causes Usher syndrome 1B. Individuals with USH1B are congenitally deaf, have vestibular deficiencies, and develop progressive photoceptor degeneration. Previous studies have focused on the hearing and vestibular phenotypes of USH1B, as these are modeled by the mouse Myo7A knock-out. The knock-out mice also show Retinal Pigment Epithelium (RPE) dysfunction including defects in melanosome motility and localization, as well as impaired phagocytosis of photoreceptor outer segments. It also has a photoreceptor phenotype but does not develop photoreceptor degeneration. Here we provide novel observations that RPE in multiple species show severe cell junction abnormalities. We also show evidence that myo7ab mutations in zebrafish not only have RPE defects, but also develop progressive photoreceptor degeneration. Thus, we define the first experimental model of USH1B to model vision loss. A third important observation is that retinal MYO7A in both mammals and zebrafish express splice variants that affect the MyTH4-FERM domain, a well characterized cargo binding domain of the actin-based motor protein. Leveraging the complimentary expertises of the two PIs, as well as multiple complimentary experimental models (USH1B patient derived RPE cells, Myo7a-mutant mice and pigs, and myo7ab zebrafish mutants), two Aims address the mechanisms underlying cell junction dysfunction, the role of each MYO7A isoform, and the ability of either MyTH4-FERM variant to prevent USH1B pathologies, including photoreceptor loss, when they are re-expressed in relevant retinal cell types. Findings from this project will provide fundamental knowledge of basic cellular functions of MYO7A, and its variants expressed within the retina, including potential cell- autonomous and non-cell-autonomous roles in photoreceptor health. From a clinical relevance perspective, results can shape future gene augmentation therapies, including what are the important MYO7A isoforms and what are the critical cell types to target in order to slow or prevent 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 = $590,839 )
2026	2026	THE MEDICAL COLLEGE OF WISCONSIN, INC.	8701 WATERTOWN PLANK RD	MILWAUKEE	WI	53226	MILWAUKEE	USA	Vision Research	000	1	4/7/2026	NEW	$590,839
														Subtotal = $590,839

Grand Total All Awards = $590,839

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Cellular mechanisms of MYO7A in the retina

Award Number: R01EY037534

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 04/15/2026

PERIOD OF PERFORMANCE END DATE: 03/31/2030

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