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CILIA IN EYE DEVELOPMENT AND DISEASE

Award Number: R01EY018176
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/01/2008
PERIOD OF PERFORMANCE END DATE: 05/31/2013

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CILIA IN EYE DEVELOPMENT AND DISEASE - DESCRIPTION (provided by applicant): This research proposal focuses on the role of cilia in photoreceptor morphogenesis. Cilia are essential for development, differentiation, and function of many tissues. In the vertebrate eye, the photosensitive part of the photoreceptor cell, the so-called outer segment, forms as a highly differentiated cilium. In the absence of ciliary axoneme, the outer segment does not form, the photoreceptor is not functional, and it degenerates. Milder cilia defects frequently cause the visual pigment mislocalization in the photoreceptor cell. This is a serious defect, known to cause photoreceptor death. Many forms of human blindness involve cilia malfunction. Nephronophthisis (NPHP) and Meckel-Gruber syndrome (MKS) are ciliary disorders that in addition to other abnormalities involve photoreceptor degeneration and blindness. Although several NPHP and MKS genes have been identified, the function of their protein products in the cell is poorly understood, if at all. We hypothesize that NPHP and MKS proteins contribute to the transport of the visual pigment to the photoreceptor outer segment. Accordingly, their defects lead to visual pigment mislocalization and photoreceptor death. Using biochemical and genetic approaches, we identified binding interactions between MKS as well as NPHP proteins and molecular complexes involved in ciliary protein transport. Here we propose to study these interactions further, and to test how MKS and NPHP proteins contribute to opsin transport in the photoreceptor outer segment. The studies of human carries of NPHP and MKS defects identified many molecular liesions that cause photoreceptor death. How do these lesions affect protein function remains, however, unknown. We will test how human mutations impact the ability of NPHP and MKS proteins to localize to cilia and to bind their partners. Together with experiments outlined above, these studies will reveal fundamental mechanisms, necessary for photoreceptor morphogenesis, function, and survival. They will also offer a way to test the impact of human mutations on specific aspects of protein function in the photoreceptor cell. PUBLIC HEALTH RELEVANCE: Cilia are necessary for photoreceptor differentiation and survival. Their malfunction frequently results in blindness. Several forms of syndromic hereditary blindness, including Nephronopthisis (NPHP), Meckel-Grueber Syndromethe (MKS), and Bardet-Biedl Syndrome (BBS) are associated with cilia malfunction. This project will advance the understanding of how genes involved in these diseases function in the photoreceptor cell.


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: 2019 ( Subtotal = -$82,169 )
2019	2014	THE UNIVERSITY OF SHEFFIELD	WESTERN BANK	SHEFFIELD	SOUTH YORKSHIRE	S10 2TN		GBR	Vision Research	000	8	7/24/2019	NON-COMPETING CONTINUATION	-$82,169
														Subtotal = -$82,169

Issue Date FY: 2017 ( Subtotal = -$2,806 )
2017	2014	THE UNIVERSITY OF SHEFFIELD	WESTERN BANK	SHEFFIELD	SOUTH YORKSHIRE	S10 2TN		GBR	Vision Research	000	8	12/2/2016	NON-COMPETING CONTINUATION	-$2,806
														Subtotal = -$2,806

Issue Date FY: 2015 ( Subtotal = $0 )
2015	2014	SHEFFIELD UNIVERSITY	NEW SPRING HOUSE GLOSSOP ROAD	SHEFFIELD		00000		GBR	Vision Research	000	8	8/5/2015	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2014 ( Subtotal = $261,633 )
2014	2014	SHEFFIELD UNIVERSITY	NEW SPRING HOUSE GLOSSOP ROAD	SHEFFIELD				GBR	Vision Research	000	8	8/20/2014	NON-COMPETING CONTINUATION	$261,633
														Subtotal = $261,633

Issue Date FY: 2013 ( Subtotal = $253,627 )
2013	2013	SHEFFIELD UNIVERSITY	WESTERN BANK	SHEFFIELD				GBR	Vision Research	000	7	6/10/2013	EXTENSION WITH OR WITHOUT FUNDS	$253,627
														Subtotal = $253,627

Issue Date FY: 2012 ( Subtotal = $266,980 )
2012	2012	SHEFFIELD UNIVERSITY	WESTERN BANK	SHEFFIELD				GBR	Vision Research	002	6	7/2/2012	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$266,980
2012	2011	TUFTS UNIVERSITY	169 HOLLAND ST, 2ND FLOOR	SOMERVILLE	MA	02144	MIDDLESEX	USA	Vision Research	000	5	11/28/2011	COMPETING CONTINUATION	$0
2012	2011	TUFTS UNIVERSITY	169 HOLLAND ST, 2ND FLOOR	SOMERVILLE	MA	02144	MIDDLESEX	USA	Vision Research	001	5	7/2/2012	COMPETING CONTINUATION	$0
														Subtotal = $266,980

Issue Date FY: 2011 ( Subtotal = $379,069 )
2011	2011	TUFTS UNIVERSITY	169 HOLLAND ST, 2ND FLOOR	SOMERVILLE	MA	02144	MIDDLESEX	USA	Vision Research	000	5	4/18/2011	COMPETING CONTINUATION	$379,069
														Subtotal = $379,069

Issue Date FY: 2010 ( Subtotal = $405,529 )
2010	2010	TUFTS UNIVERSITY	169 HOLLAND ST, 2ND FLOOR	SOMERVILLE	MA	02144	MIDDLESEX	USA	Vision Research	000	4	4/21/2010	NON-COMPETING CONTINUATION	$405,529
														Subtotal = $405,529

Issue Date FY: 2009 ( Subtotal = $474,879 )
2009	2009	MASSACHUSETTS EYE & EAR INFIRMARY, OFF OF RES ADMIN	243 CHARLES STREET	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	2	4/21/2009	NON-COMPETING CONTINUATION	$378,125
2009	2009	MASSACHUSETTS EYE & EAR INFIRMARY, OFF OF RES ADMIN	243 CHARLES STREET	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	001	2	9/25/2009	NON-COMPETING CONTINUATION	-$274,556
2009	2009	TUFTS UNIVERSITY	169 HOLLAND ST, 2ND FLOOR	SOMERVILLE	MA	02144	MIDDLESEX	USA	Trans-NIH Recovery Act Research Support	003	3	9/30/2009	SUPPLEMENT FOR EXPANSION	$96,755
2009	2009	TUFTS UNIVERSITY	169 HOLLAND ST, 2ND FLOOR	SOMERVILLE	MA	02144	MIDDLESEX	USA	Vision Research	002	3	9/25/2009	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$274,555
														Subtotal = $474,879

Issue Date FY: 2008 ( Subtotal = $390,875 )
2008	2008	MASSACHUSETTS EYE & EAR INFIRMARY, OFF OF RES ADMIN	243 CHARLES STREET	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	1	4/18/2008	NEW	$390,875
														Subtotal = $390,875

Grand Total All Awards = $2,347,617

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CILIA IN EYE DEVELOPMENT AND DISEASE

Award Number: R01EY018176

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 05/01/2008

PERIOD OF PERFORMANCE END DATE: 05/31/2013

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