Human Translational Genomics for Blood Cancers Group
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University of Granada | Department of Biochemistry and Molecular Biology
GENYO. Center for Genomics and Oncological Research
Open research consortia in genetics and genomics in hematological cancers
Connecting research groups to develop joint projects, share expertise, and generate international impact.
Figure 1. Our laboratories are located at GENYO (https://www.genyo.es/investigacion/grupos-investigacion/translational-genomics-of-blood-cancers/).
General information
Genetic factors play a key role in the development of hematological malignancies, including pretumoral stages like MGUS and MBCL. While cytogenetic techniques (karyotyping and FISH) and mutational profiling aid in diagnosis and prognosis, they have limitations. Advances in genomics now allow simultaneous analysis of numerous genetic and epigenetic variations, improving classification and diagnosis. Unlike cytogenetics, these approaches may also help develop prognostic tools, identify therapeutic targets, and personalize treatments. However, despite technological progress, few genetic variations have been definitively linked to disease susceptibility and progression.
Our mission
To coordinate, strengthen, and expand interdisciplinary research consortia focused on the genetic and genomic characterization of hematological malignancies.
Our mission is to promote open collaboration among researchers, research groups, and institutions, facilitating data sharing, joint project development, and the generation of high-quality scientific output with translational and clinical relevance.
International consortia | Join us
These research consortia bring together academics from different disciplines and institutions with the aim of developing competitive research projects, joint publications, and training activities.
The networks are dynamic and continuously evolving, welcoming new partners, ideas, and perspectives.
Interested in joining? Review the documents, complete and sign them, and contact us.
CRUCIAL consortium
Genetics and Genomics
CLL
NUCLEAR Consortium
Genetics and Genomics
AML
IMPULSE consortium
Genetics and Genomics
MDS
MIRACLE consortium
Genetics and Genomics
MPNs
IMMEnSE consortium
Genetics and Genomics
MM and MGUS
aspBIOmics consortium
Genetics and Genomics
Cancer-related infections
REPAIR consortium
Genetics and Genomics
Rheumatic Diseases
Research line 1
Genetics of hematological malignancies
Most hematological malignancies are very well characterized from the cytogenetic point of view and, although it is well known which chromosomal alterations occur in each of them and what is their prognostic value, it is increasingly evident that these alterations do not fully explain the genetic basis of these diseases and that other genetic and epigenetic alterations are necessary for the appearance of these diseases. Considering these facts and like the research line developed in myeloma, our research group, in collaboration with other researchers at national level, aims to find those genetic polymorphisms that determine the risk of developing hematological malignancies, as well as to determine the influence of the interaction of these genetic alterations with environmental factors. On the other hand, this line of research also aims to characterize the genetic profile associated with the response to the different therapies used in first and successive lines of treatment, as well as to establish the biological consequences of these alterations by means of functional assays.
Figure 2. Manhattan plot for the Meta-GWAS of Philadelphia-negative myeloproliferative neoplasms.
GWAS on MPNs
Recently published by Cabrera-Serrano et al. 2025
Research line 1: Recent Publications
Br J Haematol. 2026 Mar 23. doi: 10.1111/bjh.70444.
Int J Cancer. 2026 Mar 11. doi: 10.1002/ijc.70427. Online ahead of print.
Br J Cancer. 2025 Dec; 133 (11): 1686-1694. doi: 10.1038/s41416-025-03196-x. Epub 2025 Sep 17.
Antioxidants (Basel). 2025 Feb 25;14(3):264. doi: 10.3390/antiox14030264.
Int J Cancer. 2025 Jan 15;156(2):339-352. doi: 10.1002/ijc.35196.
Blood Adv. 2025 Dec 9; 9 (23): 6076-6089. doi: 10.1182/bloodadvances.2025017345.
Int J Mol Sci. 2023 May 9; 24 (10): 8500. doi: 10.3390/ijms24108500.
Leukemia. 2023 Nov; 37 (11): 2326-2329. doi: 10.1038/s41375-023-02022-8.
Int J Mol Sci. 2023 Apr 28; 24 (9): 8005. doi: 10.3390/ijms24098005.
Int J Mol Sci. 2023 Mar 23; 24 (7): 6029. doi: 10.3390/ijms24076029.
Cancers (Basel). 2022 Oct 17; 14 (20): 5072. doi: 10.3390/cancers14205072.
Blood Adv. 2023 Apr 25; 7 (8): 1606-1614. doi: 10.1182/bloodadvances.2022007949.
Int J Cancer. 2023 Jan 15; 152(2): 239-248. doi: 10.1002/ijc.34278.
Cancer Epidemiol Biomarkers Prev. 2022 Sep 2; 31 (9): 1863-1866. doi: 10.1158/1055-9965.EPI-22-0043.
Blood Cancer J. 2022 May 17; 12 (5): 79. doi: 10.1038/s41408-022-00676-8.
Eur J Hum Genet. 2022 Apr; 30 (4): 474-479. doi: 10.1038/s41431-021-00986-8.
Blood Cancer J. 2021 Apr 14; 11 (4): 74. doi: 10.1038/s41408-021-00462-y.
Int J Cancer. 2021 Apr 1; 148 (7): 1616-1624. doi: 10.1002/ijc.33337.
Cancers (Basel). 2021 Mar 16; 13 (6): 1344. doi: 10.3390/cancers13061344.
Int J Cancer. 2021 Jul 15;149 (2):327-336. doi: 10.1002/ijc.33547.
Int J Cancer . 2021 Apr 15; 148 (8): 1887-1894. doi: 10.1002/ijc.33377.
Blood Cancer J. 2020 Sep 1; 10 (8): 89. doi: 10.1038/s41408-020-00356-5.
Leukemia. 2019 Sep; 33 (9): 2324-2330. doi: 10.1038/s41375-019-0452-6.
Leuk Lymphoma. 2019 Jul; 60 (7): 1803-1811. doi: 10.1080/10428194.2018.1551536.
Research line 2
Genetics of MGUS and MCLB
Multiple myeloma (MM) or chronic lymphocytic leukemia (CLL) are very heterogeneous hematological malignancies that develop from premalignant stages such as monoclonal gammopathy of uncertain significance (MGUS) or monoclonal B-cell lymphocytosis (MBCL). Although in recent years considerable progress has been made in the understanding of the etiopathogenesis of these pretumoral conditions, the molecular mechanisms underlying the process of tumor transformation are still unknown. In the case of MGUS, for example, the most accepted hypothesis is that it may be due to the accumulation of certain genetic alterations such as translocations in the variable regions of the immunoglobulin (IgH) heavy chains (11q13, 4p16, 16q23, 21q12, and 6p21), deletions in chromosome 13 and trisomies of chromosomes 3, 5, 9, 11, 15, 19 and 21, as well as dysregulation of cyclin D gene expression. However, recent studies have shown that, in addition to these chromosomal alterations, the presence of single nucleotide polymorphisms (SNPs) may influence the development of tumor disease, as well as the degree of tumor progression. Based on this hypothesis, the main objective of our group is to identify genetic variations associated with MGUS and CMLB that may help us to understand the mechanisms underlying tumorogenesis.
Figure 3. Some of the most relevant mutations involved in determining susceptibility to hematological malignancies.
Research line 2: Recent Publications
Int J Cancer. 2026 Mar 11. doi: 10.1002/ijc.70427. Online ahead of print.
Research line 3
Cancer-related infections
Cancer-related infections play a crucial role in cancer patient management. A key example is Invasive Aspergillosis (IA), a life-threatening fungal infection that primarily affects immunocompromised individuals. Its incidence has increased in parallel with the widespread use of immunosuppressive therapies, and it continues to be associated with high morbidity and mortality, particularly in hematopoietic stem cell transplant recipients.
Although major risk factors, such as phagocyte dysfunction, corticosteroid exposure, prolonged neutropenia, and prior infections, have been identified, early diagnosis remains challenging. Epidemiological and translational studies increasingly support the role of host genetic predisposition in determining susceptibility and disease severity.
Within the aspBIOmics consortium, our research focuses on the identification of genetic and immunological biomarkers to predict infection risk and antifungal response. Building on this expertise, our group has also made significant contributions to the study of COVID-19, particularly in vulnerable and immunocompromised populations. Our COVID-19 research addresses host genetic determinants, immune dysregulation, and biomarkers associated with disease susceptibility and severity, as well as their clinical implications. These studies reinforce a unifying research framework centered on host–pathogen interactions, precision medicine, and risk stratification in severe infectious diseases.
Figure 4. Invasive aspergillosis and SARS-Cov2 are clinical complication is stem cell transplantation patients.
Research line 3: Recent Publications
Front Immunol. 2025 Aug 18:16:1639825. doi: 10.3389/fimmu.2025.1639825.
Int J Mol Sci. 2025 Jul 3;26(13):6419. doi: 10.3390/ijms26136419.
J Fungi (Basel). 2020 Dec 23; 7 (1): 4. doi: 10.3390/jof7010004.
J Allergy Clin Immunol. 2017 Sep; 140 (3): 867-870.e9. doi: 10.1016/j.jaci.2017.02.034.
Research line 4
Genetics of solid tumors: Colorectal, pancreatic and prostate cancers
Colorectal, prostate, and pancreatic cancers are three significant types of cancer affecting different tissues. Colorectal cancer is one of the most common cancers worldwide, with an estimated 152,810 new cases and 53,010 deaths expected in the United States in 2024. It is the second leading cause of cancer death in the U.S., and regular screening, particularly colonoscopy, can detect early-stage cancer and prevent its development by removing precancerous polyps. Symptoms may include changes in bowel habits, blood in stool, abdominal pain, and unexplained weight loss, with risk factors including family history, hereditary conditions, and a personal history of polyps. Prostate cancer, the second most common cancer affecting males after skin cancer, develops in the prostate gland and affects about 13 out of 100 males in their lifetime. Early-stage prostate cancer rarely causes symptoms, and risk factors include age, race, and family history, with treatment options varying by stage and potentially involving surgery, radiation, or hormone therapy. Pancreatic cancer, though less common, is known for its aggressive nature and poor prognosis, and is linked to a family history of pancreatic cancer, which also increases the risk of other cancers like breast, ovarian, colon, prostate, liver, and bile duct cancers.
Research has shown connections between these cancers that share common risk factors, particularly genetic predisposition and family history, making regular screenings and a healthy lifestyle essential for early detection and prevention. Although in the last decades primary surgical strategies for solid tumors have evolutionarily changed and have markedly improved both short and long-term disease outcomes, a high proportion of patients still experience severe disease relapses leading to short periods of overall survival (OS). Moreover, it is important to note that these cancers are characterized by a marked degree of heterogeneity with patients presenting very stable diseases to patients with rapidly progressive diseases who are destined to succumb in a short time. Because of this great heterogeneity, several years of treatment are often required, so that the economic costs of caring for cancer patients are usually extremely high. There are currently no clinical tools that consider the heterogeneity in the clinical course of these cancers, which severely limits opportunities for early intervention and prevention. In this discouraging context, it is urgent to define new approaches to identify new molecular biomarkers for the development of “genetic/genomic scores” for diagnosis and prognosis to predict the development of these diseases and to implement new therapeutic strategies that are more individualized and economically feasible.
Research line 4: Recent Publications
Crit Rev Oncol Hematol. 2025 Aug:212:104820. doi: 10.1016/j.critrevonc.2025.104820.
Semin Cancer Biol. 2025 Aug: 113: 100-129. doi: 10.1016/j.semcancer.2025.05.004.
Semin Cancer Biol. 2025 Feb: 109: 25-43. doi: 10.1016/j.semcancer.2024.12.005.
Int J Cancer. 2025 Jan 15; 156 (2): 339-352. doi: 10.1002/ijc.35196.
Int J Mol Sci. 2024 Dec 9; 25 (23): 13222. doi: 10.3390/ijms252313222.
Molecules. 2024 Jul 12; 29 (14): 3291. doi: 10.3390/molecules29143291.
Dalton Trans. 2024 May 28; 53 (21): 8988-9000. doi: 10.1039/d4dt00265b.
Clin Transl Med. 2024 Jan; 14 (1): e1541. doi: 10.1002/ctm2.1541.
Int J Mol Sci. 2023 Sep 1; 24 (17): 13583. doi: 10.3390/ijms241713583.
Cancers (Basel). 2022 May 12; 14 (10): 2376. doi: 10.3390/cancers14102376.
Other areas of interest
Genetic basis of rheumatoid arthritis and ankylosing spondylitis
Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are chronic inflammatory diseases that affect the joints, but they differ in various aspects such as age of onset, gender prevalence, and genetic associations. AS typically begins earlier, around 28 years, compared to RA, which usually starts between 40-50 years, and AS predominantly affects males, while RA is more common in females. The genetic associations of these diseases are significant, as 95% of AS patients are HLA-B27 positive, whereas 60% of RA patients are HLA DR4 or DR1 positive, highlighting the importance of genetic analysis in diagnosis and treatment. RA primarily affects peripheral joints like the hands and feet, while AS mainly impacts the spine and sacroiliac joints, with potential involvement of larger joints. RA shows bone resorption with erosive changes in radiographs, whereas AS is characterized by bone formation with vertebral syndesmophytes. Both diseases present different symptoms, with RA causing joint pain, swelling, stiffness, and fatigue, and AS causing lower back and hip pain that improves with exercise. Genetic testing plays a crucial role in confirming diagnoses, as it helps differentiate between these conditions and guides treatment. While NSAIDs and TNF-alpha blocking drugs are effective for both conditions, DMARDs are important in RA but have limited use in AS. To date, several genetic markers have been identified as associated with response to DMARDS and anti-TNF drugs, which confirms the importance of genetic testing in the management of patients.
The co-occurrence of both diseases is rare but has been observed, and patients with both often display more severe symptoms and radiological changes. Even though RA and AS share some characteristics as chronic inflammatory diseases, they have distinct genetic links, clinical presentations, and responses to treatment, which underscores the need for precise genetic testing to ensure effective management.
The genetic factors involved in the triggering of RA and AS have been the subject of intense research but, to date, only a few studies have investigated the relationship between the presence of genetic alterations and gender-associated differences in susceptibility to these diseases. With these facts in mind, our research group is focused on identifying gender-associated genetic variations in immune system genes that are associated with an increased risk of developing RA and AS. In addition, our group is studying overlapping genetic factors and whether the interaction of genetic alterations and environmental factors modulates the risk of developing both diseases.
Other areas of interest: Recent Publications
Other areas of interest: Recent Publications
Frontiers in Immunology. 2026 Apr (In press).
Bioorg Med Chem. 2026 Apr:135:118554. doi: 10.1016/j.bmc.2026.118554. Epub 2026 Jan 9.
Biosensors (Basel). 2025 Nov 22;15(12):766. doi: 10.3390/bios15120766.
Front Immunol. 2021 Oct 27: 12: 672255. doi: 10.3389/fimmu.2021.672255.
Sci Rep. 2020 Mar 9; 10 (1): 4316. doi: 10.1038/s41598-020-61331-5.
Sci Rep. 2019 Oct 15; 9 (1): 14812. doi: 10.1038/s41598-019-51255-0.
Team members
Juan Sainz
Associate Professor
Group Leader
Antonio José Cabrera-Serrano
Posdoctoral Researcher
María Carretero
PhD student
(FPU 2024)
Contact us
Contact us
Dr. Juan Sainz
Associate Professor (Profesor Titular de Universidad)
Department of Biochemistry and Molecular Biology I
Faculty of Sciences, University of Granada (UGR)
Avenida de Fuente Nueva, s/n | 18071 Granada, Spain
📞 +34 958 24 13 83
Rearch group: IBS.Granada MP04 | CTS-1090
ORCID: 0000-0002-9355-2423
Email: jsainz@ugr.es
Head of the Human Translational Genomics of Blood Cancers Group
GENYO – Centre for Genomics and Oncological Research
Genomic Oncology Department, PTS Granada
Avenida de la Ilustración 114 | 18016 Granada, Spain
📞 +34 958 715 500 (Ext: 126 office | 127 lab)
📠 +34 958 637 071
Research group IBS.Granada MP04 | CTS-1090
ORCID: 0000-0002-9355-2423
Email: juan.sainz@genyo.es
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