Paula Río Galdo

Paula Río, PhD (UCM, 2002) is the Head of the Bone Marrow Aplasia Unit (Biomedical Innovation Unit, CIEMAT/CIBERER/IIS-FJD, UAM; Madrid, Spain).

She has been working in the field of Fanconi anemia (FA) gene therapy for more than 20 years. Her studies in gene therapy for Fanconi anemia include the design of a new lentiviral vector (González Murillo et al., Human Gene Therapy, 2010) that received the Orphan Drug Designation both by the EMA and FDA (EU/3/10/822 (2010) and ODD-FDA: DRU-2016-5193 (2016), and the first demonstration that a short transduction protocol allows the engraftment of corrected cells from FA patients in immunodeficient mice (Rio*, Navarro* et al., Blood, 2017). Now she is deeply involved as Associated investigator in two different clinical trials focused on the correction of HSCs from Fanconi anemia A patients (NCT03157804 and NCT04248439) (Río et al. Nature Medicine, 2019). She was also in charge of Production department at the GMP facility Clinistem for the development of gene therapy trials for rare diseases from 2013 until 2021. 

Since 2010 she has been also working in gene editing, first by targeting HSCs from FA patients by Homologous recombination (Rio*, Baños* et al., EBMM, 2014; Diez et al., EBMM, 2017) and nowadays by Non-homologous End Joining using the CRISPR/Cas9 system (Román-Rodríguez et al., Cell Stem Cell, 2019) and new editing tools.

Paula has been a member of the Board of Directors of the Spanish Society of Cell and Gene Therapy (SETGyC) for the last five years, three years as SETGyC Treasurer and currently SETGyC President. She also collaborates with the ESCGT in the Patients Information working group and as an abstract reviewer. Since 2020 she is a member of the Immuno-Gene Therapy Committee from the International Society of Cell Therapy (ISCT). In 2021 she was nominated as a Board member of the Fanconi Anemia Research Fundation (FARF) and actively participates in the Fanconi anemia Gene Therapy working group. Since 2021 she is also member of the Gene Editing committee of the American Society of Gene and Cell Therapy (ASGCT) and member of the subcommittee on Emerging Gene and Cell Therapies of the American Society of Hematology (ASH). Since 2022 she is member of the experts committee from AEMPS.

She co-organized the Gene Therapy meeting from the FARF 2021 and is a member of the 2022 ASCGT, ISCT, SETGYC and FARF meetings organization committees.

She evaluates papers from different specialized journals (NEJM, Blood, Molecular Therapy,…).

Nowadays she is the coordinator of a European Joint Program for Rare diseases focused on gene editing strategies for Fanconi anemia (FANEDIT), principal investigator in a European Pathfinder project, coordinator of the project ”Personalized and Innovative Gene Therapy Strategies for the Treatment of Inherited Bone Marrow Failure Syndromes” supported by the Ministry of Science and Innovation and co-principal investigator in three different projects granted by Rocket Pharmaceuticals, Inc. focused on Gene editing by Non-homologous End Joining and preclinical gene therapy studies in FA patients complementation groups C and G. 

She participates as inventor in two recent patent applications in USA:  Methods for Gene Modification of Hematopoietic Cells. Priority patent application: US 62/712,146 and
“Gene Therapy for Patients with Fanconi Anemia”. Priority patent application: US 62/385,185 and an orphan drug designation in Europe and USA: Drug name: Lentiviral vector carrying the Fanconi anemia-A (FANCA) gene for the treatment of Fanconi anemia type A. EU designation number: EU/3/10/822 (2010) and ODD-FDA: DRU-2016-5193 (2016).

Publications:

1. Jose A Casado, Antonio Valeri, Rebeca Sanchez-Domínguez, Paula Vela, Andrea Lopez, Susana Navarro, Omaira Alberquilla, Helmut Hanenberg, Roser Pujol, Jose C Segovia, Jordi Minguillón, Jordi Surrallés, Cristina Diaz-de-Heredia, Julián Sevilla, Paula Rio, Juan A Bueren. Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia. Journal of Clinical Investigation. 2022 Jun 7;e142842. (15/16) DOI: 10.1172/JCI142842. IF (2021): 19.456. Q1 (Medicine, Research & Experimental).

2. Sevilla J*, Navarro S*, Rio P*, Sánchez-Domínguez R, Zubicaray J, Gálvez E, Merino E, Sebastián E, Azqueta C, Casado JA, Segovia JC, Alberquilla O, Bogliolo M, Román-Rodríguez FJ, Giménez Y, Larcher L, Salgado R, Pujol RM, Hladun R, Castillo A, Soulier J, Querol S, Fernández J, Schwartz J, García de Andoín N, López R, Catalá A, Surralles J, Díaz-de-Heredia C, Bueren JA Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes. Mol Ther Methods Clin Dev. 2021;22:66-75. (3*/30)*Co-first author. DOI: 10.1016/j.omtm.2021.06.001. IF (2020): 6.698. Q1 (Medicine, Research & Experimental).

3. Leivas A, Valeri A, Cordoba L, García-Ortiz A, Ortiz A, Sánchez-Vega L, Graña-Castro O, Fernández L, Carreño-Tarragona G, Pérez M, Megías D, Paciello ML, Sánchez-Pina J, Pérez-Martínez A, Lee DA, Powell Jr D, Rio P and Martinez-Lopez J. NKG2D-CAR-transduced natural killer cells efficiently target multiple myeloma. Blood Cancer J. 2021;11(8):146. (17/18). DOI: 10.1038/s41408-021-00537-w. IF (2020): 11.037. Q1 (Oncology)/Q1 (Hematology).

4. Roman-Rodriguez FJ, Ugalde L, Alvarez L, Díez B, Ramírez MJ, Risueño C, Cortón M, Bogliolo M, Bernal S, March F, Ayuso C, Hanenberg H, Sevilla J, Rodríguez-Perales S, Torres-Ruiz R, Surrallés J, Bueren JA and Rio P. NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia. Cell Stem Cell. 2019;25(5):607-621 e607. (18/18). Corresponding author. DOI: 10.1016/j.stem.2019.08.016. IF (2019): 20.86 Q1 (Cell & Tissue Engineering) Q1 (Cell Biology).

5. Rio P, Navarro S, Wang W, Sánchez-Domínguez R, Pujol RM, Segovia JC, Bogliolo M, Merino E, Wu N, Salgado R, Lamana ML, Yañez RM, Casado JA, Giménez Y, Román- Rodríguez FJ, Álvarez L, Alberquilla O, Raimbault A, Guenechea G, Lozano ML, Cerrato L, Hernando M, Gálvez E, Hladun R, Giralt I, Barquinero J, Galy A, García de Andoín N, López R, Catalá A, Schwartz JD, Surrallés J, Soulier J, Schmidt M, Díaz de Heredia C, Sevilla J, Bueren JA. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nat Med. 2019;25(9):1396-1401.(1/37). DOI: 10.1038/s41591-019-0550-z. IF (2019): 36.13. Q1 (Biochemistry & Molecular biology) Q1 (Cell Biology).

6. Rio P*, Navarro S*, Guenechea G, Sánchez-Domínguez R, Lamana ML, Yañez R, Casado JA, Mehta PA, Pujol MR, Surrallés J, Charrier S, Galy A, Segovia JC, Díaz de Heredia C, Sevilla J, Bueren JA. Engraftment and in vivo proliferation advantage of gene-corrected mobilized CD34(+) cells from Fanconi anemia patients. Blood. 2017;130(13):1535-1542. (1*/16). *Co-first author. DOI: 10.1182/blood-2017-03-774174. IF (2017): 15.13 Q1(Hematology)

7. Diez B, Genovese P, Roman-Rodriguez FJ, Alvarez L, Schiroli G, Ugalde L, Rodríguez-Perales S, Sevilla J, Diaz de Heredia C, Homes MC, Lombardo A, Naldini L, Bueren JA* and Rio P*. Therapeutic gene editing in CD34(+) hematopoietic progenitors from Fanconi anemia patients. EMBO Mol Med. 2017;9(11):1574-1588. (14*/14). *Co-last author and co-corresponding author. DOI: 10.15252/emmm.201707540. IF (2017): 10.293. Q1 (Medicine, Research and experimental).

8. Cuesta-Dominguez A, Leon-Rico D, Alvarez L, Díez B, Bodega-Mayor I, Baños R, Martín-Rey MA, Santos-Roncero M, Gaspar ML, Martín-Acosta P, Almarza E, Bueren JA, Rio P* and Fernández-Ruiz* E BCR-JAK2 drives a myeloproliferative neoplasm in transplanted mice. J Pathol. 2015;236(2):219-228. (14*/15)*Co-last author. DOI: 10.1002/path.4513. IF (2015): 7.381. Q1 (Oncology).

9. Rio P*, Banos R*, Lombardo A, Quintana-Bustamante O, Álvarez L, Garate Z, Genovese P, Almarza E, Valeri A, Díez B, Navarro S, Torres Y, Trujillo JP, Murillas R, Segovia JC, Samper E, Surralles J, Gregory PD, Holmes MC, Naldini L and  Bueren J.A. Targeted gene therapy and cell reprogramming in Fanconi anemia. EMBO Mol Med. 2014;6(6):835-848. (14*/15)* Co-last author. DOI: 10.15252/emmm.201303374. IF (2014): 8.665. Q1 (Medicine, Research and experimental).

10. Bogliolo M, Schuster B, Stoepker C,Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J.. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet. 2013;92(5):800-806. (13/22). DOI: 10.1016/j.ajhg.2013.04.002 IF(2013): 10.987. Q1 (Genetics & Heredity).