Christine H Seidman

20030054343, Mar 20, 2003

Jun 6, 1995

08/469172

CHRISTINE SEIDMAN - MILTON MA, US
JOHN SEIDMAN - MILTON MA, US
HUGH WATKINS - BROOKLINE MA, US
ANTHONY ROSENZWEIG - NEWTON MA, US

C12Q001/68
C07H021/02
C07H021/04
C12P019/34

435/006000, 536/023100, 435/091100

A method is described for diagnosing individuals as having hypertrophic cardiomyopathy, e.g. familial or sporadic hypertrophic cardiomyopathy. The method provides a useful diagnostic tool which becomes particularly important when testing asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of familial hypertrophic cardiomyopathy may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for the disease may be counseled to take steps which hopefully would prolong their life, i.e. avoid rigorous exercise. The methodology used in the above method also has broad applicability and may be used to detect other disease-associated mutations in DNA obtained from subjects being tested for other disease-associated mutations.

20040086876, May 6, 2004

Nov 4, 2002

10/288552

Christine Seidman - Milton MA, US
Jonathan Seidman - Milton MA, US
Ludwig Thierfelder - Berlin, DE
Hugh Watkins - Oxford, GB
Calum McRae - Brookline MA, US

C12Q001/68

435/006000

The invention pertains to methods for detecting the presence or absence of a mutation associated with hypertrophic cardiomyopathy (HC). The methods include providing DNA which encodes a cardiac myosin binding protein and detecting the presence or absence of a mutation in the amplified product which is associated with HC. The invention further pertains to methods for diagnosing HC in a subject. These methods typically include obtaining a sample of DNA which encodes a cardiac myosin binding protein from a subject being tested for FHC and diagnosing the subject for FHC by detecting the presence or absence of a mutation in the sarcomeric thin filament protein which causes FHC as an indication of the disease. Other aspects of the invention include kits useful for diagnosing HC and methods for treating HC.

20040152121, Aug 5, 2004

Feb 27, 2004

10/788779

Christine Seidman - Milton MA, US
John Seidman - Milton MA, US
Hugh Watkins - Brookline MA, US
Anthony Rosenzweig - Newton MA, US

C12Q001/68
C12P019/34

435/006000, 435/091200

A method is described for diagnosing individuals as having hypertrophic cardiomyopathy, e.g. familial or sporadic hypertrophic cardiomyopathy. The method provides a useful diagnostic tool which becomes particularly important when testing asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of familial hypertrophic cardiomyopathy may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for the disease may be counseled to take steps which hopefully would prolong their life, i.e. avoid rigorous exercise. The methodology used in the above method also has broad applicability and may be used to detect other disease-associated mutations in DNA obtained from subject being tested for other disease-associated mutations.

20070111223, May 17, 2007

Jun 6, 2006

11/447613

Christine Seidman - Milton MA, US
John Seidman - Milton MA, US
Hugh Watkins - Brookline MA, US
Anthony Rosenzweig - Newton MA, US

C12Q 1/68
C12P 19/34

435006000, 435091200

A method is described for diagnosing individuals as having hypertrophic cardiomyopathy, e.g. familial or sporadic hypertrophic cardiomyopathy. The method provides a useful diagnostic tool which becomes particularly important when testing asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of familial hypertrophic cardiomyopathy may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for the disease may be counseled to take steps which hopefully would prolong their life, i.e. avoid rigorous exercise. The methodology used in the above method also has broad applicability and may be used to detect other disease-associated mutations in DNA obtained from subject being tested for other disease-associated mutations.

20100062427, Mar 11, 2010

Aug 14, 2008

12/191766

Christine Seidman - Canton MA, US
John Seidman - Canton MA, US
Hugh Watkins - Brookline MA, US
Anthony Rosenzweig - Newton MA, US

C12Q 1/68
C07H 21/00

435 6, 536 2433

A method is described for diagnosing individuals as having hypertrophic cardiomyopathy, e.g. familial or sporadic hypertrophic cardiomyopathy. The method provides a useful diagnostic tool which becomes particularly important when testing asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of familial hypertrophic cardiomyopathy may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for the disease may be counseled to take steps which hopefully would prolong their life, i.e. avoid rigorous exercise. The methodology used in the above method also has broad applicability and may be used to detect other disease-associated mutations in DNA obtained from subject being tested for other disease-associated mutations.

59121211, Jun 15, 1999

Dec 12, 1994

8/354326

Christine Seidman - Milton MA
Jonathan Seidman - Milton MA
Ludwig Thierfelder - Brookline MA
Hugh Watkins - Brookline MA
Calum McRae - Brookline MA

Bringham and Women's Hospital - Brookline MA
President and Fellows of Harvard College - Cambridge MA

C12Q 168
C12P 1934
C07H 2102
C07H 2104

435 6

The invention pertains to methods for detecting the presence or absence of a mutation associated with hypertrophic cardiomyopathy (HC). The methods include providing DNA which encodes a sarcomeric thin filament protein (e. g. ,. alpha. -tropomyosin or cardiac troponin T) and detecting the presence or absence of a mutation in the amplified product which is associated with HC. DNA encoding an actin-associated protein, a myosin-associated protein, or a sarcomeric protein other than. beta. cardiac heavy chain can also be used in the methods of the present invention. The invention further pertains to methods for diagnosing familial HC (FHC) in a subject. These methods typically include obtaining a sample of DNA which encodes a sarcomeric thin filament protein from a subject being tested for FHC and diagnosing the subject for FHC by detecting the presence or absence of a mutation in the sarcomeric thin filament protein which causes FHC as an indication of the disease. An alternative method for diagnosing HC includes obtaining a sample of at least two sarcomeric proteins from a subject being tested for HC and diagnosing the subject for HC by detecting an abnormality in the sarcomeric proteins as an indication of the disease. Other aspects of the invention include kits useful for diagnosing HC and methods for treating HC.

54299233, Jul 4, 1995

Dec 11, 1992

7/989160

Christine Seidman - Milton MA
John Seidman - Milton MA
Hugh Watkins - Brookline MA
Anthony Rosenzweig - Newton MA

President and Fellows of Harvard College - Cambridge MA
Brigham and Women's Hospital - Boston MA
The General Hospital - Boston MA

C12Q 170
C12P 1934
C07H 1700

435 6

A method is described for diagnosing individuals as having hypertrophic cardiomyopathy, e. g. familial or sporadic hypertrophic cardiomyopathy. The method provides a useful diagnostic tool which becomes particularly important when testing asymptomatic individuals suspected of having the disease. Symptomatic individuals have a much better chance of being diagnosed properly by a physician. Asymptomatic individuals from families having a history of familial hypertrophic cardiomyopathy may be selectively screened using the method of this invention allowing for a diagnosis prior to the appearance of any symptoms. Individuals having the mutation responsible for the disease may be counseled to take steps which hopefully would prolong their life, i. e. avoid rigorous exercise. The methodology used in the above method also has broad applicability and may be used to detect other disease-associated mutations in DNA obtained from subjects being tested for other disease-associated mutations.

58404775, Nov 24, 1998

Jun 7, 1995

8/481793

Christine Seidman - Milton MA
Jonathan Seidman - Milton MA
Ludwig Thierfelder - Brookline MA
Hugh Watkins - Brookline MA
Calum McRae - Brookline MA

Brigham & Women's Hospital - Boston MA
President & Fellows of Harvard College - Cambridge MA

C12Q 168
C12Q 100
C12P 1934
C07H 2102

435 4

The invention pertains to methods for detecting the presence or absence of a mutation associated with hypertrophic cardiomyopathy (HC). The methods include providing DNA which encodes a sarcomeric thin filament protein (e. g. ,. alpha. -tropomyosin or cardiac troponin T) and detecting the presence or absence of a mutation in the amplified product which is associated with HC. DNA encoding an actin-associated protein, a myosin-associated protein, or a sarcomeric protein other than. beta. cardiac heavy chain can also be used in the methods of the present invention. The invention further pertains to methods for diagnosing familial HC (FHC) in a subject. These methods typically include obtaining a sample of DNA which encodes a sarcomeric thin filament protein from a subject being tested for FHC and diagnosing the subject for FHC by detecting the presence or absence of a mutation in the sarcomeric thin filament protein which causes FHC as an indication of the disease. An alternative method for diagnosing HC includes obtaining a sample of at least two sarcomeric proteins from a subject being tested for HC and diagnosing the subject for HC by detecting an abnormality in the sarcomeric proteins as an indication of the disease. Other aspects of the invention include kits useful for diagnosing HC and methods for treating HC.