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Retinal Disease: Molecular Basis and Pathophysiology

Award Number: R01EY011996
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 02/01/1998
PERIOD OF PERFORMANCE END DATE: 04/30/2027

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View Award Description

Retinal Disease: Molecular Basis and Pathophysiology - PROJECT SUMMARY/ABSTRACT Understanding how a pathogenic mutation leads to disease is extremely important for prognosis, for developing effective treatments and for assessing likely response to treatment. Genes do not act in isolation. Gene mutations typically do not cause the disease pathology themselves - rather, they activate or deactivate biological pathways, affecting a set of molecules whose function results in the manifestation and progression of disease phenotypes. Furthermore, evidence from several groups including our preliminary omics studies suggests that alterations in different sets of molecules may lead to multiple disease phenotypes, further adding to the complexities underlying genetic mutations and their effects. The goal of this application is to delve into this complexity by looking closely at three different disease aspects of the Mfrprd6 mutation, namely, photoreceptor degeneration, hyperopia and fundus spotting, and examine their association with three intermediary phenotypes, aberrant DHA levels, cytoskeletal derangements and immune cell responses. Our approach is to use clinical, functional and biochemical tests to provide a deep characterization of the disease phenotypes and to examine associated cellular changes using single-nuclear transcriptomics and proteomic analyses. These phenotypic and genomics data will be analyzed using computational methods to identify the earliest perturbations in these models, and to determine in proof-of- principle experiments, whether it is possible to manipulate the disease outcomes with nutriceutical and pharmacological interventions. Successful completion of our studies will identify the pathogenic pathways that result in observed disease phenotypes, due to the disruption of Mfrp function, revealing potential therapeutic targets that may play a role in a broad range of retinal genetic diseases with similar phenotypic manifestations. .


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 = $699,455 )
2026	2026	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	001	22	5/13/2026	NON-COMPETING CONTINUATION	$699,455
2026	2025	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	21	2/23/2026	NON-COMPETING CONTINUATION	$0
														Subtotal = $699,455

Issue Date FY: 2025 ( Subtotal = $700,655 )
2025	2025	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	21	7/10/2025	NON-COMPETING CONTINUATION	$700,655
														Subtotal = $700,655

Issue Date FY: 2024 ( Subtotal = $703,969 )
2024	2024	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	20	5/24/2024	NON-COMPETING CONTINUATION	$703,969
														Subtotal = $703,969

Issue Date FY: 2023 ( Subtotal = $714,791 )
2023	2023	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	19	4/12/2023	COMPETING CONTINUATION	$699,042
2023	2023	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	001	19	9/11/2023	COMPETING CONTINUATION	$15,749
														Subtotal = $714,791

Issue Date FY: 2022 ( Subtotal = -$6 )
2022	2019	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	18	11/3/2021	NON-COMPETING CONTINUATION	-$6
														Subtotal = -$6

Issue Date FY: 2019 ( Subtotal = $720,816 )
2019	2019	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	18	6/27/2019	NON-COMPETING CONTINUATION	$720,816
														Subtotal = $720,816

Issue Date FY: 2018 ( Subtotal = $846,496 )
2018	2018	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Dietary Supplement Research Program	001	17	9/12/2018	SUPPLEMENT FOR EXPANSION	$125,680
2018	2018	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	17	6/28/2018	NON-COMPETING CONTINUATION	$720,816
														Subtotal = $846,496

Issue Date FY: 2017 ( Subtotal = $720,816 )
2017	2017	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	001	16	6/21/2017	NON-COMPETING CONTINUATION	$720,816
2017	2012	THE JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	13	5/8/2017	NON-COMPETING CONTINUATION	$0
														Subtotal = $720,816

Issue Date FY: 2016 ( Subtotal = $690,911 )
2016	2016	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	15	6/20/2016	NON-COMPETING CONTINUATION	$690,911
														Subtotal = $690,911

Issue Date FY: 2015 ( Subtotal = $690,911 )
2015	2015	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	14	6/18/2015	COMPETING CONTINUATION	$690,911
														Subtotal = $690,911

Issue Date FY: 2012 ( Subtotal = $593,222 )
2012	2012	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	13	8/10/2012	NON-COMPETING CONTINUATION	$593,222
														Subtotal = $593,222

Issue Date FY: 2011 ( Subtotal = $593,222 )
2011	2011	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	12	8/4/2011	NON-COMPETING CONTINUATION	$593,222
														Subtotal = $593,222

Issue Date FY: 2010 ( Subtotal = $599,943 )
2010	2010	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	11	8/11/2010	NON-COMPETING CONTINUATION	$599,943
														Subtotal = $599,943

Issue Date FY: 2009 ( Subtotal = $831,032 )
2009	2009	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Trans-NIH Recovery Act Research Support	000	9	7/31/2009	SUPPLEMENT FOR EXPANSION	$242,680
2009	2009	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	001	10	8/14/2009	NON-COMPETING CONTINUATION	$588,352
														Subtotal = $831,032

Issue Date FY: 2008 ( Subtotal = $571,215 )
2008	2008	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	9	8/27/2008	COMPETING CONTINUATION	$571,215
														Subtotal = $571,215

Issue Date FY: 2006 ( Subtotal = $397,924 )
2006	2006	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	8	2/2/2006	NON-COMPETING CONTINUATION	$397,924
														Subtotal = $397,924

Issue Date FY: 2005 ( Subtotal = $407,500 )
2005	2005	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	7	2/28/2005	NON-COMPETING CONTINUATION	$407,500
														Subtotal = $407,500

Issue Date FY: 2004 ( Subtotal = $738,154 )
2004	2004	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	6	2/6/2004	NON-COMPETING CONTINUATION	$407,500
2004	2004	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	001	6	8/27/2004	SUPPLEMENT FOR EXPANSION	$330,654
														Subtotal = $738,154

Issue Date FY: 2003 ( Subtotal = $481,656 )
2003	2003	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	001	5	9/22/2003	SUPPLEMENT FOR EXPANSION	$74,156
2003	2003	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	5		NON-COMPETING CONTINUATION	$407,500
														Subtotal = $481,656

Issue Date FY: 2002 ( Subtotal = $407,916 )
2002	2002	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	4	1/18/2002	COMPETING CONTINUATION	$407,916
														Subtotal = $407,916

Issue Date FY: 2000 ( Subtotal = $277,839 )
2000	2000	JACKSON LABORATORY (THE)	600 MAIN STREET	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	3	2/17/2000	NON-COMPETING CONTINUATION	$277,839
														Subtotal = $277,839

Issue Date FY: 1999 ( Subtotal = $265,741 ) (Continued on the next page)
Grand Total All Awards = $12,912,179

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Retinal Disease: Molecular Basis and Pathophysiology

Award Number: R01EY011996

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 02/01/1998

PERIOD OF PERFORMANCE END DATE: 04/30/2027

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