IP Library › Granted Patent US 12,503,733
Granted Patent B2
US 12,503,733 · App. 18/240,789 · Granted Dec 23, 2025

Methods of identifying and treating a person having a predisposition to or afflicted with a cardiometabolic disease

Inventors: Benjamin Levine Ebert (Brookline, MA); Siddhartha Jaiswal (Cambridge, MA); Sekar Kathiresan (Newton, MA)
Assignees: The Brigham and Women's Hospital, Inc.; The General Hospital Corporation
C12Q1/6883C12Q1/6886C12Q2600/156C12Q2600/158G01N33/68G01N2800/32
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Quick Facts
Patent No.
US 12,503,733
App. No.
18/240,789
Granted
Dec 23, 2025
Kind
B2
Abstract

The invention relates to method for identifying and selecting a subject with increased risk of developing a cardiometabolic disease and optionally, providing a personalized medicine method, which may involve sequencing at least part of a genome of one or more cells in a blood sample of the subject and identifying from said sequencing one or more mutations in one or more somatic mutations.

Claims (15)

1 . A method of treating or preventing coronary heart disease (CHD) in a human subject, comprising the steps of:

(a) sequencing at least part of a genome of one or more cells from a blood sample of the subject, wherein the at least part of said genome comprises a JAK2 gene,

(b) detecting an activating mutation in the JAK2 gene selected from N533D, N533Y, N533S, H538R, K539E, K539L, I540T, 1540V, R683S, R683G, del/ins537-539L, del/ins538-539L, del/ins540-543MK, del/ins540-544MK, del/ins541-543K, del542-543, del543-544 and ins11546-547; and

(c) administering a lipid modifying medicine to the subject.

2 . The method according to claim 1 , wherein the one more cells in the blood sample are hematopoietic stem cells (HSCs), committed myeloid progenitor cells having long term self-renewal capacity or mature lymphoid cells having long term self-renewal capacity.

3 . The method according to claim 1 , wherein the sequencing is whole exome sequencing (WES).

4 . The method according to claim 1 , wherein the subject also exhibits one or more risk factors of being a smoker, having a high level of total cholesterol or having high level of high-density lipoprotein (HDL).

5 . The method of claim 1 , wherein the lipid-modifying medicine is a statin.

6 . The method of claim 1 , wherein the lipid-modifying medicine is a PCSK9 inhibitor.

7 . The method of claim 6 , wherein the PCSK9 inhibitor is a monoclonal antibody.

8 . A method of treating or preventing CHD in a human subject, wherein the genome of a blood cell in said subject comprises an activating mutation in a JAK2 gene selected from N533D, N533Y, N533S, H538R, K539E, K539L, I540T, 1540V, V1-7F R683S, R683G, del/ins537-539L, del/ins538-539L, del/ins540-543MK, del/ins540-544MK, del/ins541-543K, del542-543, del543-544 and ins11546-547, the method comprising administering a lipid-modifying medicine to the subject.

9 . The method according to claim 8 , wherein the subject also exhibits one or more risk factors of being a smoker, having a high level of total cholesterol or having high level of high-density lipoprotein (HDL).

10 . The method of claim 8 , wherein the lipid-modifying medicine is a statin.

11 . The method of claim 8 , wherein the lipid-modifying medicine is a PCSK9 inhibitor.

12 . The method of claim 11 , wherein the PCSK9 inhibitor is a monoclonal antibody.

Assignments (2)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Dec 20, 2023
From: KATHIRESAN, SEKAR
To: THE GENERAL HOSPITAL CORPORATION
Reel/Frame 066090/0107 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Dec 20, 2023
From: EBERT, BENJAMIN LEVINE; JAISWAL, SIDDHARTHA
To: THE BRIGHAM AND WOMEN'S HOSPITAL, INC.
Reel/Frame 066090/0160 →
Continuity (4)
Continuation 17403024 · Aug 16, 2021
Continuation 15529010
Provisional Application 62084127 · Nov 25, 2014
Related Publication 20240167093A1 · May 23, 2024
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