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Lysosomal Enzymes and Associated Human Genetic Diseases

Award Number: R01DK054317
ORGANIZATION: NATIONAL INSTITUTE OF DIABETES & DIGESTIVE & KIDNEY DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/15/1999
PERIOD OF PERFORMANCE END DATE: 06/30/2013

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Lysosomal Enzymes and Associated Human Genetic Diseases - DESCRIPTION (provided by applicant): Lysosomes are acidic, membrane-delimited organelles whose central function is to degrade macromolecules. The lysosome contains a wide variety of soluble enzymes that hydrolyze substrates as well as transmembrane proteins that perform a number of functions including transport of degradation products out of this organelle. The importance of lysosomal proteins in normal cellular physiology is illustrated by the dozens of lysosomal storage disorders (LSDs) such as Tay-Sach's disease where a deficiency in a single lysosomal protein results in accumulation of catabolites and a depletion of downstream metabolites. These monogenic diseases typically cause severe illness including mental retardation, developmental deformities, and premature death. The gene defects in over 40 different LSDs have been identified, which, through genetic counseling, has greatly decreased the prevalence of some of these disorders. Despite this impressive progress, much remains to be accomplished as there are a number of clinically-defined disorders that appear to be LSDs but which are of unknown molecular etiology. In addition, there are numerous individuals that have LSDs based upon clinical and ultrastructural criteria for which the gene defects have not been identified. We hypothesize that many of these unsolved genetic diseases are caused by mutations in genes encoding lysosomal proteins. The overall goal of this proposal is to determine the basis of these unsolved LSD cases. There are two specific aims. Aim 1 is to use a newly developed comparative proteomics method to identify aberrant proteins and the gene defects underlying numerous unsolved LSDs. Aim 2 is to use quantitative mass spectrometry with subcellular fractionation to define the lysosomal proteome and to make this information readily accessible to the biomedical community. This will establish a resource that will greatly facilitate identification of lysosomal disease genes using other approaches such as linkage analysis. Completion of these specific aims will identify new lysosomal disease genes as well as new mutations in existing disease genes that cause atypical clinical presentations. This will be of paramount significant to the affected individuals and families, and will provide important information on how lysosomal deficiencies are manifested. In addition, the proteomics methods established to investigate LSDs will enable future studies on widespread human disorders where lysosomal changes may be important, including cancer and Alzheimer disease. Finally, assignment of the lysosomal proteome will be an important contribution to functional genomics and will have broad biomedical impact.The proposed research is to determine the basis for previously unsolved human genetic diseases. This research will also establish systems for the investigation of the role of a group of biomedically important proteins in widespread human diseases in such as Alzheimer's and cancer.


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: 2014 ( Subtotal = $0 )
2014	2012	Rutgers, The State Univ Biomedical & Health Sciences	65 Davidson Road	Piscataway	NJ	08854	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	14	2/28/2014	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	-$3,147
2014	2012	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	001	13	2/28/2014	NON-COMPETING CONTINUATION	$3,147
														Subtotal = $0

Issue Date FY: 2013 ( Subtotal = $0 )
2013	2012	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	13	8/27/2013	NON-COMPETING CONTINUATION	-$60,001
2013	2012	Rutgers, The State Univ Biomedical & HEALTH Sciences	65 Davidson Road	Piscataway	NJ	08554		USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	001	14	8/27/2013	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$60,001
														Subtotal = $0

Issue Date FY: 2012 ( Subtotal = $382,239 )
2012	2012	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	13	3/9/2012	NON-COMPETING CONTINUATION	$382,239
														Subtotal = $382,239

Issue Date FY: 2011 ( Subtotal = $382,239 )
2011	2011	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	12	3/11/2011	NON-COMPETING CONTINUATION	$347,490
2011	2011	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	001	12	5/24/2011	NON-COMPETING CONTINUATION	$34,749
														Subtotal = $382,239

Issue Date FY: 2010 ( Subtotal = $479,347 )
2010	2010	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Trans-NIH Recovery Act Research Support	000	10	1/30/2010	SUPPLEMENT FOR EXPANSION	$93,247
2010	2010	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	001	11	3/23/2010	NON-COMPETING CONTINUATION	$386,100
														Subtotal = $479,347

Issue Date FY: 2009 ( Subtotal = $390,000 )
2009	2009	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	10	4/1/2009	NON-COMPETING CONTINUATION	$390,000
														Subtotal = $390,000

Issue Date FY: 2008 ( Subtotal = $390,000 )
2008	2008	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	9	3/10/2008	COMPETING CONTINUATION	$390,000
														Subtotal = $390,000

Issue Date FY: 2006 ( Subtotal = $379,609 )
2006	2006	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	8	3/20/2006	NON-COMPETING CONTINUATION	$379,609
														Subtotal = $379,609

Issue Date FY: 2005 ( Subtotal = $387,228 )
2005	2005	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	7	3/16/2005	NON-COMPETING CONTINUATION	$387,228
														Subtotal = $387,228

Issue Date FY: 2004 ( Subtotal = $358,642 )
2004	2004	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	6	4/12/2004	NON-COMPETING CONTINUATION	$326,375
2004	2004	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	001	6	9/6/2004	SUPPLEMENT FOR EXPANSION	$32,267
														Subtotal = $358,642

Issue Date FY: 2003 ( Subtotal = $373,180 )
2003	2003	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	5	6/6/2003	COMPETING CONTINUATION	$373,180
														Subtotal = $373,180

Issue Date FY: 2002 ( Subtotal = $262,514 )
2002	2002	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	4	4/17/2002	NON-COMPETING CONTINUATION	$262,514
														Subtotal = $262,514

Issue Date FY: 2001 ( Subtotal = $254,867 )
2001	2001	UMDNJ, ROBERT WOOD JOHNSON MED SCH	335 GEO ST LIBERTY PLAZA 4 FL	NEW BRUNSWICK	NJ	08903	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	3	5/21/2001	NON-COMPETING CONTINUATION	$254,867
														Subtotal = $254,867

Issue Date FY: 2000 ( Subtotal = $247,442 )
2000	2000	RUTGERS THE STATE UNIVERSITY OF NEW JERSEY	3 RUTGERS PLAZA	NEW BRUNSWICK	NJ	08901	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	2	7/24/2000	NON-COMPETING CONTINUATION	$247,442
														Subtotal = $247,442

Issue Date FY: 1999 ( Subtotal = $245,825 )
1999	1999	RUTGERS THE STATE UNIVERSITY OF NEW JERSEY	3 RUTGERS PLAZA	NEW BRUNSWICK	NJ	08901	MIDDLESEX	USA	Diabetes, Digestive, and Kidney Diseases Extramural Research	000	1	6/4/1999	NEW	$245,825
														Subtotal = $245,825

Grand Total All Awards = $4,533,132

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Lysosomal Enzymes and Associated Human Genetic Diseases

Award Number: R01DK054317

ORGANIZATION: NATIONAL INSTITUTE OF DIABETES & DIGESTIVE & KIDNEY DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 06/15/1999

PERIOD OF PERFORMANCE END DATE: 06/30/2013

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