Hereditary Cancer, Hematological Diseases and Other Rare Diseases

Composed of different cross-cutting research groups from various fields, including clinical and molecular genetics, regenerative medicine, advanced/innovative therapies, molecular biology, and cell biology. It also includes five associated clinical groups.

 

Rare diseases studied:

The program covers more than 50 rare diseases within hereditary cancer, hematological and dermatological diseases, highlighting the following groups:

• Congenital anemias, such as Diamond-Blackfan anemia and thalassemias
• Hematological neoplasms and myelodysplastic syndromes
• Dyskeratosis congenita and congenital neutropenias
• Hereditary neutrophil disorders
• Fanconi anemia and disorders related to genomic instability
• Hereditary cancer and pediatric tumors
• Rare dermatological diseases
• Coagulopathies and thrombophilias

 

Objectives:

1. To study the pathophysiological mechanisms and genetic bases of hereditary cancer, as well as other related syndromes in which genomic instability is a key component in disease onset or progression. This program also includes groups working on genetically based hematological and dermatological disorders.
2. To improve the diagnosis of the aforementioned rare diseases.
3. To conduct research on advanced therapies related to these conditions, including gene therapy and skin bioengineering.
4. To achieve these objectives through collaboration among program groups, as well as with other CIBERER groups and other CIBER areas.

 

Scientific Coordinator:Corral de la Calle, Javier

 

Full member groups constituting the Research Program:

1. Alonso García de la Rosa, Francisco Javier – U758
2. Botella Cubells, Luisa María – U707
3. Caballero Molina, María Teresa – U754
4. Carracedo Álvarez, Ángel – U711
5. Corral de la Calle, Javier – U765
6. Del Río Nechaevsky, Marcela – U714
7. Fernández Fraga, Mario – U766
8. López Granados, Eduardo – U767
9. Mulero Méndez, Victoriano – U768
10. Perona Abellón, Rosario – U757
11. Puig Sardá, Susana – U726
12. Pulido Murillo, Rafael – U772
13. Río Galdo, Paula – U710
14. Robledo Batanero, Mercedes – U706
15. Soria Fernández, José Manuel – U771
16. Surrallés Calonge, Jordi – U745

Associated Clinical groups constituting the Research Program:

1. Beléndez Bileler, Cristina – GCV14/ER/17 (pb enlace en la web)
2. Catalá Temprano, Albert – GCV14/ER/18
3. Sevilla Navarro, Julián - GCV14/ER/19
4. Díaz de Heredia, Cristina - GCV21/ER/1 (pb enlace en la web)
5. Marazuela Azpíroz, Mónica - GCV14/ER/12