Thursday, November 21, 2024 11/21/2024

Imaging genetics of laryngeal dystonia

Award Number: R01DC011805
ORGANIZATION: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

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PROJECT SUMMARY / ABSTRACT Laryngeal dystonia (LD), or spasmodic dysphonia, is isolated focal dystonia characterized by selective impairment of speech production due to involuntary spasms in the laryngeal muscles. Despite well- characterized clinical features of LD, its clinical management remains challenging due, in part, to the absence of objective measures (biomarkers) for early detection and differential diagnosis. This results in diagnostic inaccuracies, which have a negative impact on the patient’s quality of life and healthcare costs. Importantly, delayed diagnosis leads to deferred treatment. The objective of this application is to conduct a series of studies that combine advanced machine-learning with neuroimaging and genetics to (1) identify the neural markers that accurately differentiate LD between its clinical phenotypes (adductor vs. abductor), genotypes (sporadic vs. familial), and comorbid disorders (voice tremor and muscle tension dysphonia); (2) determine the early predictive neural markers of LD development in at-risk individuals, and (3) validate associated LD gene mutations. Supported by our preliminary data, our central hypothesis is that brain abnormalities are shaped, in part, by underlying genetic factors and exhibit LD form-characteristic features, which can be used as differential diagnostic and early predictive biomarkers of this disorder. This research is innovative both conceptually and methodologically because it uses a cross-disciplinary approach to focus on the neural pathophysiology and genetic susceptibility factors for LD diagnostic and predictive biomarker discovery. The proposed research is significant because it will directly contribute to closing the critically existing gap in the clinical management of LD. Identification of LD neural and genetic markers is expected to have a positive translational impact by establishing enhanced criteria for accurate differential diagnosis and screening of persons at risk. In short, the successful completion of these studies will open new horizons for the clinical management of LD patients.


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: 2024 ( Subtotal = $1 )
2024	2024	MASSACHUSETTS EYE AND EAR INFIRMARY	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	000	14	7/17/2024	NON-COMPETING CONTINUATION	$1
														Subtotal = $1

Issue Date FY: 2023 ( Subtotal = $594,364 )
2023	2023	MASSACHUSETTS EYE AND EAR INFIRMARY	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	002	13	7/18/2023	NON-COMPETING CONTINUATION	$594,364
2023	2022	MASSACHUSETTS EYE AND EAR INFIRMARY	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	001	12	4/21/2023	COMPETING CONTINUATION	$691,774
2023	2021	MASSACHUSETTS EYE AND EAR INFIRMARY	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	000	11	4/21/2023	NON-COMPETING CONTINUATION	-$691,774
														Subtotal = $594,364

Issue Date FY: 2022 ( Subtotal = $611,364 )
2022	2022	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	001	12	7/25/2022	COMPETING CONTINUATION	$611,364
2022	2022	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	002	12	7/27/2022	COMPETING CONTINUATION	$0
2022	2021	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	000	11	7/25/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $611,364

Issue Date FY: 2021 ( Subtotal = $696,730 )
2021	2021	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	000	11	2/19/2021	NON-COMPETING CONTINUATION	$696,730
														Subtotal = $696,730

Issue Date FY: 2020 ( Subtotal = $696,730 )
2020	2020	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	000	10	2/21/2020	NON-COMPETING CONTINUATION	$696,730
														Subtotal = $696,730

Issue Date FY: 2019 ( Subtotal = $696,730 )
2019	2019	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	000	9	2/20/2019	NON-COMPETING CONTINUATION	$696,730
														Subtotal = $696,730

Issue Date FY: 2018 ( Subtotal = $699,626 )
2018	2018	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	007	8	4/5/2018	NON-COMPETING CONTINUATION	$69,962
2018	2018	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	004	8	2/20/2018	NON-COMPETING CONTINUATION	$629,664
2018	2017	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	006	7	3/12/2018	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$918
2018	2017	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	003	7	12/29/2017	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$2,569
2018	2017	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Research Related to Deafness and Communication Disorders	002	6	12/29/2017	COMPETING CONTINUATION	-$2,569
2018	2017	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Research Related to Deafness and Communication Disorders	005	6	3/12/2018	COMPETING CONTINUATION	-$918
2018	2017	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	001	7	12/20/2017	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$370,111
2018	2017	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Research Related to Deafness and Communication Disorders	000	6	12/20/2017	COMPETING CONTINUATION	-$370,111
														Subtotal = $699,626

Issue Date FY: 2017 ( Subtotal = $726,182 )
2017	2017	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Research Related to Deafness and Communication Disorders	004	7	8/30/2017	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$365,626
2017	2017	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Research Related to Deafness and Communication Disorders	003	6	8/30/2017	COMPETING CONTINUATION	-$354,851
2017	2017	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Research Related to Deafness and Communication Disorders	000	6	1/9/2017	COMPETING CONTINUATION	$715,407
2017	2017	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Research Related to Deafness and Communication Disorders	002	6	5/24/2017	COMPETING CONTINUATION	$387,922
2017	2016	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	ONE GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Research Related to Deafness and Communication Disorders	001	5	5/24/2017	EXTENSION WITH OR WITHOUT FUNDS	-$387,922
														Subtotal = $726,182

Issue Date FY: 2016 ( Subtotal = $557,748 )
2016	2016	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	1 GUSTAVE L LEVY PL, BOX 3500	NEW YORK-NEW YORK	NY	10029		USA	Research Related to Deafness and Communication Disorders	000	5	2/26/2016	EXTENSION WITH OR WITHOUT FUNDS	$557,748
														Subtotal = $557,748

Issue Date FY: 2015 ( Subtotal = $592,974 )
2015	2015	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	1 GUSTAVE L LEVY PL, BOX 3500	NEW YORK-NEW YORK	NY	10029		USA	Research Related to Deafness and Communication Disorders	000	4	2/18/2015	NON-COMPETING CONTINUATION	$592,974
														Subtotal = $592,974

Issue Date FY: 2014 ( Subtotal = $588,121 )
2014	2014	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	1 GUSTAVE L LEVY PL, BOX 3500	NEW YORK-NEW YORK	NY	10029		USA	Research Related to Deafness and Communication Disorders	000	3	2/17/2014	NON-COMPETING CONTINUATION	$588,121
														Subtotal = $588,121

Issue Date FY: 2013 ( Subtotal = $559,114 )
2013	2013	MT SINAI SCHOOL OF MEDICINE	1 GUSTAVE L LEVY PL, BOX 3500	NEW YORK-NEW YORK	NY	10029		USA	Research Related to Deafness and Communication Disorders	001	2	5/14/2013	NON-COMPETING CONTINUATION	$29,428
2013	2013	MT SINAI SCHOOL OF MEDICINE	1 GUSTAVE L LEVY PL, BOX 3500	NEW YORK-NEW YORK	NY	10029		USA	Research Related to Deafness and Communication Disorders	000	2	2/20/2013	NON-COMPETING CONTINUATION	$529,686
														Subtotal = $559,114

Issue Date FY: 2012 ( Subtotal = $604,000 )
2012	2012	MT SINAI SCHOOL OF MEDICINE	1 GUSTAVE L LEVY PL, BOX 3500	NEW YORK-NEW YORK	NY	10029		USA	Research Related to Deafness and Communication Disorders	000	1	3/19/2012	NEW	$604,000
														Subtotal = $604,000

Grand Total All Awards = $7,623,684

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Imaging genetics of laryngeal dystonia

Award Number: R01DC011805

ORGANIZATION: NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

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