MP04-Immunogenetics, Systemic and Skin Diseases
Precision Medicine / IBS-MP04 / Consolidated
Historically, precision medicine in hematology has focused on using real-world data (RWD) generated by the healthcare ecosystem to identify people at risk of developing cancer or even to characterize those patients at higher risk of cancer progression. the illness. This strategy allows for clinical interventions that reduce the risk of disease onset or treatment failure and relapse.
Our group aims to establish proposals for strategies for primary and secondary prevention of hematological malignancies and prevention of disease progression. We base our strategies on risk profiles that integrate biomarkers identified from the fields of genomics, epigenomics, and proteomics, in combination with microbiome, environmental, and lifestyle factors throughout the natural history of each specific hematologic malignancy. Although it is evident that the environment plays an important role in the development of hematological malignancies, as demonstrated by the marked increase in incidence in recent decades, few environmental risk factors have been identified to date, making primary prevention difficult. . This also means that it is not currently possible to stratify patients according to relevant etiological and clinical characteristics. A comprehensive integration of OMIC data with microbiome, environmental, and lifestyle factors in risk profiles has the potential to address this knowledge gap. Furthermore, this approach could ultimately provide individualized tools for prevention and risk stratification, improve early diagnosis of hematologic malignancies (particularly for aggressive subtypes with rapid disease progression), and open new avenues to improve treatment. .
Research lines
- Strategic research line 1: Precision medicine: Development of tools for early diagnosis, patient monitoring and disease prognosis.
- Secondary strategic line: Cancer genomics
- Longitudinal and multi-OMIC approaches for hematological malignancies.
- Genetics of premalignant monoclonal B-cell disorders: MGUS and MBL.
- Genetic bases of susceptibility to Invasive Fungal Infections in hematological patients.
- Genetics of autoimmune diseases: Rheumatoid Arthritis and Ankylosing Spondylitis
- Genetics and genomics of solid tumors: colorectal, pancreatic and prostate cancer.
- Genetics and immune response to COVID-19 vaccination.
Research networks
- CRuCIAL (Chronic Lymphocytic Leukemia)
- NuCLEAR (Acute Myeloid Leukemia)
- aspBIOmics (invasive fungal infections)
- IMPULSE (Myeloproliferative neoplasms)
- MIRACLE (Myeloproliferative neoplasms)
- REPAIR (Rheumatoid arthritis and ankylosing spondylitis)
Keywords
Genetics, genomics, multi-OMIC approaches, molecular risk scores, hematological malignancies, solid tumors, immune-mediated diseases and invasive infections.
ADORATION HERNANDEZ VIDAÑA
MARIA JOSE PEREZ GALAN
MARIA ELENA CORNEJO CALVO
ANGELA MARTINEZ HELLIN
EVA MARIA PEREZ GUTIERREZ
PALOMA GARCIA MARTIN
JOSE MANUEL SANCHEZ MALDONADO
MARIA JOSE HAIR TAPIA
MIGUEL ANGEL LOPEZ NEVOT
RAPHAEL CALIZ CALIZ
MIGUEL ANGEL FERRER GONZALEZ
JUAN SAINZ PEREZ
Inventors: MIGUEL ANGEL LOPEZ NEVOT, JOSEFA LEON LOPEZ, ANA GILA MEDINA, JOSÉ ANTONIO MUÑOZ GÁMEZ, ROSA QUILES PÉREZ, PALOMA MUÑOZ DE RUEDA, ÁNGEL CARAZO GALLEGO, ESTHER JOSÉ PAVÓN CASTILLERO, ANA BELÉNIO MUÑOZ SALMON ESCO
Degree: POLYMORPHISMS TO PREDICT OR FORECAST THE RESPONSE TO ANTIVIRAL TREATMENT
Code: P201430205
Inventors: JAVIER SALMERÓN ESCOBAR; PALOMA MUÑOZ DE RUEDA; ROSA QUILES PÉREZ; JOSE ANTONIO MUÑOZ GAMEZ; ESTHER JOSÉ PAVÓN CASTILLERO; ANA GILA MEDINA; MIGUEL ANGEL LOPEZ NEVOT; JORGE CASADO RUIZ; ANGELES RUIZ LEIZÓN EXTREMERA; ANA GILA CARRENO ANGELES;
Degree: Specific mutations (L5P; L7P; L15S) in the immunodominant epitope HCV-NS3 (aa 1253-1272) against HLA-DQB1 * 0301 cause a non-response to antiviral treatment with pegIFN / RBV in patients with Chronic Hepatitis C genotype
Code: P-06781
Inventors: JOSE ANTONIO LOPEZ ESCAMEZ, MIGUEL ANGEL LOPEZ NEVOT, IRENE GAZQUEZ PEREZ
Degree: METHOD OF OBTAINING USEFUL DATA FOR THE DIAGNOSIS AND PROGNOSIS OF NEUROSENSORY HEARING
Code: P201132013
Human adipose tissue as a major reservoir of cytomegalovirus-reactive T cells
FRONTIERS IN IMMUNOLOGY, 2023;
FI: 7,3; Q1
Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023;
FI: 5,6; Q1
Complement Binding Anti-HLA Antibodies and the Survival of Kidney Transplantation
JOURNAL OF CLINICAL MEDICINE, 2023;
FI: 3,9; Q2
Autophagy in Hematological Malignancies
CANCER, 2022;
FI: 6,575; Q1
Major Histocompatibility Complex Class I Chain-Related alpha (MICA) STR Polymorphisms in COVID-19 Patients
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022;
FI: 6,208; Q1
Study of HLA-A,-B,-C,-DRB1 and-DQB1 polymorphisms in COVID-19 patients
JOURNAL OF MICROBIOLOGY IMMUNOLOGY AND INFECTION, 2022;
FI: 10,273; Q1
Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis
CANCER, 2022;
FI: 6,575; Q1
Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia: a CRuCIAL study
BLOOD CANCER JOURNAL, 2022;
FI: 9,812; Q1
Clinical Case: Patient with Mixed Graft Rejection Four Days after Kidney Transplantation Developed Specific Antibodies against Donor Bw4 Specificities.
ANTIBODIES, 2021;
Polymorphisms within the TNFSF4 and MAPKAPK2 Loci Influence the Risk of Developing Invasive Aspergillosis: A Two-Stage Case Control Study in the Context of the aspBIOmics Consortium
JOURNAL OF FUNGI, 2021;
FI: 5,816; Q1
Validation of GWAS-Identified Variants for Anti-TNF Drug Response in Rheumatoid Arthritis: A Meta-Analysis of Two Large Cohorts
FRONTIERS IN IMMUNOLOGY, 2021;
FI: 7,561; Q1
Measurement of 45 cytokine, chemokine and growth factors in established cell culture supernatants and autologous serum from advanced melanoma patients
CARCINOGENESIS, 2021;
FI: 4,944; Q2
Serum Cytokine Profiles of Melanoma Patients and Their Association with Tumor Progression and Metastasis
JOURNAL OF ONCOLOGY, 2021;
FI: 4,375; Q2
Host immune genetic variations influence the risk of developing acute myeloid leukemia: results from the NuCLEAR consortium
BLOOD CANCER JOURNAL, 2020;
FI: 8,023; D1
NFKB2 polymorphisms associated with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium
SCIENTIFIC REPORTS, 2020;
FI: 3,998; Q1
Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis
INFECTION AND IMMUNITY, 2020;
FI: 3,201; Q2
Joint study of the associations of HLA-B and the transmembrane short tandem repeat polymorphism of MICA protein with alopecia areata shows independent associations of both with the disease
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2020;
FI: 1,977; Q3
Steroid hormone-related polymorphisms associated with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium
SCIENTIFIC REPORTS, 2019;
FI: 4,011; Q1
Asymptomatic Leishmania infection in blood donors from the Southern of Spain
INFECTION, 2019;
FI: 2,927; Q2
Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A * 33: 01; B * 14: 02; C * 08: 02 as a genetic marker
AUSTRALIAN JOURNAL OF DERMATOLOGY, 2019;
FI: 1,701; Q3
Familial frontal fibrosing alopecia: A cross-sectional study of 20 cases from nine families
AUSTRALIAN JOURNAL OF DERMATOLOGY, 2019;
FI: 1,701; Q3
Phenotype and natural history of elderly onset inflammatory bowel disease: a multicenter, case-control study
ALIMENTARY PHARMACOLOGY & THERAPEUTICS, 2018;
FI: 7,357; D1
Studying the effect of systemic and biological drugs on intima-media thickness in patients suffering from moderate and severe psoriasis.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2018;
FI: 4,287; Q1
Evolution After Anti-TNF Discontinuation in Patients With Inflammatory Bowel Disease: A Multicenter Long-Term Follow-Up Study
AMERICAN JOURNAL OF GASTROENTEROLOGY, 2017;
FI: 9,566; D1
CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS)
CLINICAL GENETICS, 2017;
FI: 3,326; Q2
Apremilast, beyond psoriasis as a therapeutic target
CLINICAL MEDICINE, 2017;
FI: 1,125; Q3
Is it safe to use N-acetylcysteine in the treatment of bilateral ectropion on collodion baby?
INTERNATIONAL JOURNAL OF DERMATOLOGY, 2017;
FI: 1,56; Q3
Successful Treatment of Proliferative Verrucous Leukoplakia With 5% Topical Imiquimod
DERMATOLOGICAL THERAPY, 2017;
FI: 1,093; Q4
Outcomes of Medical and Surgical Therapy for Entero-urinary Fistulas in Crohn's Disease
JOURNAL OF CROHNS & COLITIS, 2016;
FI: 6,585; D1
Killer Immunoglobulin-Like Receptor Profiles Are Not Associated with Risk of Amoxicillin-Clavulanate-Induced Liver Injury in Spanish Patients
FRONTIERS IN PHARMACOLOGY, 2016;
FI: 4,418; Q1
Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium
INFECTION AND IMMUNITY, 2016;
FI: 3,603; Q1
Conformational dynamics is key to understanding loss-of-function of NQO1 cancer-associated polymorphisms and its correction by pharmacological ligands
SCIENTIFIC REPORTS, 2016;
FI: 5,228; Q1
MICA * A4 protects against ulcerative colitis, whereas MICA * A5.1 is associated with abscess formation and age of onset
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2016;
FI: 3,148; Q2
Mechanisms of solvent resistance mediated by interplay of cellular factors in Pseudomonas putida
FEMS MICROBIOLOGY REVIEWS, 2015;
FI: 13,244; D1
Genetic variants within immune-modulating genes influence the risk of developing rheumatoid arthritis and anti-TNF drug response: a two-stage case-control study
PHARMACOGENETICS AND GENOMICS, 2015;
FI: 3,481; Q1
Genetic variants within the TNFRSF1B gene and susceptibility to rheumatoid arthritis and response to anti-TNF drugs: a multicenter study
PHARMACOGENETICS AND GENOMICS, 2015;
FI: 3,481; Q1
Prognosis of Patients with Ulcerative Colitis in Sustained Remission After Thiopurines Withdrawal
INFLAMMATORY BOWEL DISEASES, 2015;
FI: 4,464; Q1
Association of haplotypes of the TLR8 locus with susceptibility to Crohn's and Behcet's diseases
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2015;
FI: 2,724; Q2
TOFACITINIB IN ULCERATIVE COLITIS: REAL WORLD EVIDENCE (To-ReWard Study)
Financer: PÉREZ GISBERT, JAVIER
Type of test: INDEPENDENT POST-AUTHORIZATION STUDY
Execution time: 24/06/2021 - 30/03/2022
PI: MARIA JOSE CABELLO TAPIA
A phase 2b, double-blind, randomized, placebo-controlled, parallel group, dose ranging study of oral PF-06651600 and PF-06700841 as induction and chronic therapy in subjects with moderate to severe uncerative colitis
Funder: PFIZER INC
Type of test: COMMERCIAL CLINICAL TRIAL
Execution time: 26/09/2017 - 30/09/2020
PI: MARIA JOSE CABELLO TAPIA
Randomized, double-blind, placebo-controlled, parallel-group phase IIA study to evaluate the efficacy and safety of PF-06651600 and PF06700841 by mouth as induction and open-label extension therapy in patients with moderate or severe Crohn's disease
Funder: PFIZER INC
Type of test: COMMERCIAL CLINICAL TRIAL
Execution time: 27/06/2018 - 28/02/2021
PI: MARIA JOSE CABELLO TAPIA
Phase II, multicenter, randomized, double-blind, placebo-controlled dose-finding study to evaluate the efficacy and safety of IMU-838 in induction and maintenance therapy in moderate to severe ulcerative colitis. CALDOSE I
Funder: IMMUNIC AG
Type of test: COMMERCIAL CLINICAL TRIAL
Execution time: 30/05/2018 - 22/01/2020
PI: MARIA JOSE CABELLO TAPIA