Ana Río Machín

• Multi-omics profiling of primary samples and cell lines: genomics (PCR, qPCR, WES, WGS, targeted sequencing, miRNAs, RNA-seq cytogenetics), (phospho)proteomics (Mass Spectrometry and Western Blot), in vitro drug sensitivity screenings, flow cytometry, CyTOF…
• Functional studies: Proliferation/apoptosis/cell cycle/differentiation/cell-colony forming unit assays, shRNA/CRISPR-KO/lentiviral models, luciferase assays, cloning
• Genetic counselling, germline predisposition studies in myeloid malignancies.

Research:

• Current funding as Principal Investigator (PI):
• Miguel Servet (I) Fellow – AES 2023. Funding source: ISCIII. 308,600 €. 2024-2029. Role: PI
• CRUK Early Detection and Diagnosis Award (EDDPJT-May23/100019). Funding source: Cancer Research UK. £500,000. 2023-2026. Role: IP
• EHA Junior Research Grant (EHA RG71). Funding source: European Haematology Association. 150,000 €. 2021-2025. Role: IP.
• Other projects in the last 5 years:
• IMPaCT_VUSCan Project (PMP22/00064) (link). Funding source: ISCIII. 2022-2026. Role: Collaborator
• Great Ormond Street Hospital Childrens (GOSH) Charity National Funding Call 2023/24: Defining mechanisms and clonal evolution to leukaemia associated with germline CEBPA mutations. £250,000. Role: Collaborator
• CRUK Research programme (C15966/A24375). Funding source: Cancer Research UK. £2,145,813. 2017-2022. Role: Researcher.
• Bloodwise Research programme (14032). Funding source: Blood Cancer UK. £1,406,323. 2015-2021. Role: Researcher

Teaching:

• Teaching collaborator Universidad Complutense de Madrid (Spain) and Queen Mary Univeristy of London (UK)
• Teaching the e-oncologia virtual course by the Catalan Institute of Oncology (ICO) entitled Introduction to the Basic Aspects of Studies on Hereditary Hematologic Neoplasms (2025-26).

Senior author:
1.
DEK::NUP214 acts as an XPO1-dependent transcriptional activator of essential leukemia genes. Leukemia. Apr 2025. doi: 10.1038/s41375-025-02593-8. First and corresponding author:
2. GATA2 deficiency syndrome: A compensatory mechanism gone awry? Br J Haematol. Aug 2024; 205(2):411-413.
3. ATM serine/threonine kinase germline mutations in CLL come in different flavours. Br J Haematol. Nov 2022. 199(3):307-309.
4. DDX41: the poster child for familial AML. Blood. Aug 2022; 140(7):667-669.
5.
Acquired somatic variants in inherited myeloid malignancies. Leukemia. May 2022; 36(5):1377-1381.
6. Germline ETV6 variants: not ALL created equally. Blood. Jan 2021; 137(3):288-289.
7. The complex genetic landscape of familial MDS/AML. Nat Commun. Feb 2020;11(1):1044. Co-author:
1.
Flow Cytometry Analysis of Mesenchymal Stem Cells: A Predictive Biomarker for Leukemia Transformation in Myelodysplastic Syndrome. eJHaem, 2025; 6:e70059.
2.
Stearoyl-CoA desaturase inhibition is toxic to acute myeloid leukemia displaying high levels of the de novo fatty acid biosynthesis and desaturation. Leukemia. Aug 2024. 38, 2395–2409 (2024).
3.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants. Blood Adv. 7(20):6092-6107.
4.
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.Br J Haematol. 2023 Apr; 201(1):25-34.
5.
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes. Signal Transduct Target Ther. Feb 2023;8(1):80.
6.
The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes. Nat Commun. Dec 2022;13(1):7619.
7.
Germline ERCC6L2 mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment. Br J Haematol. Sep 2022; 199(5):754-764.
8.
A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation. RNA. Jun 2022; 28(9):1224-1238
9.
CKS1 inhibition depletes leukemic stem cells and protects healthy hematopoietic stem cells in acute myeloid leukemia. Sci Transl Med. Jun 2022; 14(650):eabn3248.
10.
Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia. Nat Commun. Jul 2020; 11(1):3506.
11.
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure. Proc Natl Acad Sci U S. Jul 2020; 117(29):17151-17155.
12.
AML through the prism of molecular genetics. Br J Haematol. Jan 2020; 188(1):49-62.

• SciMINARS . Algarve Biomedical Centrer. Research Institute (ABC-Ri). Jan 2024
• Annual Cambridge Summer Haematology Meeting. 27th June 2024. Cambridge, UK.
• Swiss Society of Hematology SSH-Diagnostic Meeting. 19-20th June 2024. Bern, Switzerland.
• Cancer Research Horizons Innovation Summit 2023. 21st November 2023. London, UK.
• LXV SEHH National Congress - XXXIX SETH National congress – III Iberoamerican congress of haematology. 26th Oct 2023. Sevilla, Spain.
• European Human Genetics Conference (ESHG). 10th-13th June 2023. Glasgow, UK.
• CETLAM Annual Meeting. May 2023. Barcelona, Spain.
• 4th AML Academy Management of Adult AML: Where are we in 2022. NCRI Acute Myeloid Leukaemia Working Party. 22nd-23rd September 2022. Birmingham, UK.
• Haematological Malignancies Consensus Workshop. NHS, UK Cancer Genetics Group and CanGene-CanVar programme. 29th April 2022. UK.
• XV Jornada de Actualización en Genética Humana: Cáncer hereditario. Spanish Society of Human Genetics (AEGH). 22nd April 2022. Barcelona, Spain.
• 1st Symposium of haematological neoplasms with germline predisposition. Spanish Society of Haematology (SEHH). 29th March 2022. Madrid, Spain.

Director of three doctoral thesis; member of the Scientific Program Committee (SPC) of the European Society of Human Genetics (ESHG) 2024-2028; Early Career Researcher Award (Blood Cancer UK, 2019); invited chair in international conferences; reviewer of international research grants and scientific journals; examiner of doctoral thesis; active contributions to scientific dissemination and public outreach; several conference awards