The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Jul. 04, 1995

Filed:

Dec. 11, 1992
Applicant:
Inventors:

Christine Seidman, Milton, MA (US);

John Seidman, Milton, MA (US);

Hugh Watkins, Brookline, MA (US);

Anthony Rosenzweig, Newton, MA (US);

Assignees:

President and Fellows of Harvard College, Cambridge, MA (US);

Brigham and Women's Hospital, Boston, MA (US);

The General Hospital, Boston, MA (US);

Attorney:
Primary Examiner:
Assistant Examiner:
Int. Cl.
CPC ...
C12Q / ; C12P / ; C07H / ;
U.S. Cl.
CPC ...
435-6 ; 435 911 ; 536 231 ; 536 243 ; 536 2433 ; 935-2 ; 935 84 ;
Abstract

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.


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