Nova Patents
EP3626832A2

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

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.

EP3626832A2, drawing sheet 1
Sheet 1 of 135

Term

9.2 yearsto projected expiry

Projected expiry 25 November 2035, counted from filing; an application has no term until it is granted.

  1. Priority
  2. Filed
  3. Published
  4. Today
  5. Projected expiry

12 claims: 1 independent, 11 dependent

  1. 1
    A method for identifying and selecting a subject with increased risk of developing a cardiometabolic disease, and optionally a hematological cancer, comprising the steps of:(a) sequencing at least part of a genome comprising one or more genes selected from the group consisting of a TET2 , ASXL1 , TP53 , JAK2 and SF3B1 gene of one or more cells in a blood sample of the subject, (b) identifying from said sequencing one or more mutations in said one or more genes selected from the group consisting of a TET2 , ASXL1 , TP53 , JAK2 and SF3B1 gene, wherein presence of said mutation(s) indicates an increased risk of developing a cardiometabolic disease, and optionally a hematological cancer.
  2. 11
    The method according to any one of claims 1-10, wherein the one or more mutations are frameshift mutations, nonsense mutations, missense mutations or splice-site variant mutations.
  3. 12
    The method according to any one of claims 1-11, wherein the mutation in TET2 is a mutation selected from the group consisting of S282F, N312S, L346P, S460F, D666G, P941S, and C1135Y;and/or wherein the mutation in ASXL1 is a mutation in exon 11-12;and/or wherein the mutation in TP523 is a mutation selected from the group consisting of S46F, G105C, G105R, G105D, G108S, G108C, R110L, R110C, T118A, T118R, T118I, L130V, L130F, K132Q, K132E, K132W, K132R, K132M, K132N, C135W, C135S, C135F, C135G, Q136K, Q136E, Q136P, Q136R, Q136L, Q136H, A138P, A138V, A138A, A138T, T140I, C141R, C141G, C141A, C141Y, C141S, C141F, C141W, V143M, V143A, V143E, L145Q, L145R, P151T, P151A, P151S, P151H, P152S, P152R, P152L, T155P, R158H, R158L, A159V, A159P, A159S, A159D, A161T, A161D, Y163N, Y163H, Y163D, Y163S, Y163C, K164E, K164M, K164N, K164P, H168Y, H168P, H168R, H168L, H168Q, M169I, M169T, M169V, T170M, E171K, E171Q, E171G, E171A, E171V and E171D;and/or wherein the mutation in JAK2 is a mutation selected from the group consisting of N533D, N533Y, N533S, H538R, K539E, K539L, I540T, I540V, V617F, 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/or wherein the mutation in SF3B1 is a mutation selected from the group consisting of G347V, R387W, R387Q, E592K, E622D, Y623C, R625L, R625C, H662Q, H662D, K666N, K666T, K666E, K666R, K700E, V701F, A708T, G740R, G740E, A744P, D781G and E783K.
Independent claims3