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Maria Ignacia Fuentes Bustos

Profesor Asistente / Research Director

Pontificia Universidad Católica / Fundación DEBRA Chile

Saltiago, Chile

Genetics, Molecular Biology, Skin Research and Wound healing, Epidermolysis Bullosa, Horizontal Gene Transfer, New technologies, FACS and Omics. FONDECYT Initiation into Research 11140440 (2014-2017) FONDECYT Regular 1181093 (2018-2021)

Ph.D., Potsdam University and Max Planck Institute for Molecular Plant Physiology. Alemania, 2012
Biochemistry, Pontificia Universidad Católica de Chile. Chile, 2007
Research in Dermatology, JEFFERSON UNIVERSITY. Estados Unidos, 2019
Molecular Biology and Genetics , MAX-PLANCK INSTITUT FUR MOLEKULARE PFLANZENPHYSIOLOGIE. Alemania, 2013

Associated Researcher

Centro de Biotecnología Vegetal UNAB

Santiago, Chile

2007 - 2008
Researcher Full Time

Fundación DEBRA Chile

Chile

2013 - 2017
Research Director Part Time

Fundación DEBRA Chile

Chile

2017 - At present
Independent Researcher Part Time

Universidad del Desarrollo

Chile

2013 - 2019
Associate Professor Part Time

Universidad del Desarrollo, ICIM CGG

Chile

2020 - At present

Students from undergraduate and postgraduate degrees:
-Biology, PUC
-Medical Technologist, U Mayor
-Biotechnology U Mayor
-Odontology, U de Chile
-Master, U de Valparaíso
-PhD, Biological Sciences PUC

Jeff Schell prize

MAX-PLANCK INSTITUT FUR MOLEKULARE PFLANZENPHYSIOLOGIE

Alemania, 2013

Awarded to one Ph.D. student per year for outstanding scientific work
IMPRS (International Max Planck Research School) fellowship

MAX-PLANCK INSTITUT FUR MOLEKULARE PFLANZENPHYSIOLOGIE

Alemania, 2008

Complete Fellowship to do the doctoral training


Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis. Has C. Article BRITISH JOURNAL OF DERMATOLOGY (2019)
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy Schwieger-Briel, Agnes; Fuentes, Ignacia; Castiglia, Daniele; Barbato, Antonio; Greutmann, Matthias; Leppert, Juna; Duchatelet, Sabine; Hovnanian, Alain; Burattini, Sofia; Yubero, M. Joao; Ibanez-Arenas, Rodrigo; Rebolledo-Jaramillo, Boris; Grani, Christoph; Ott, Hagen; Theiler, Martin; Weibel, Lisa; Paller, Amy S.; Zambruno, Giovanna; Fischer, Judith; Palisson, Francis; Has, Cristina Article ISI SCOPUS JOURNAL OF INVESTIGATIVE DERMATOLOGY (2019)
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation=> Genotype-phenotype correlation and in silico modeling analysis. Lalor, Leah; Titeux, Matthias; Palisson, Francis; Fuentes, Ignacia; Yubero, María J; Tasanen, Kaisa; Huilaja, Laura; Has, Cristina; Tadini, Gianluca; Haggstrom, Anita N; Hovnanian, Alain; Lucky, Anne W Article Pediatric dermatology (2019)
Epithelial HMGB1 Delays Skin Wound Healing andDrives Tumor Initiation by Priming Neutrophils for NET Formation. Hoste E. Article CELL REPORTS (2019)
Identification of rigosertib for the treatment of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. Atanasova V. Article CLINICAL CANCER RESEARCH (2019)
Thrombospondin-1 Is a Major Activator of TGF-Î² Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts. Atanasova, Velina S; Russell, Rebecca J; Webster, Timothy G; Cao, Qingqing; Agarwal, Pooja; Lim, Yok Zuan; Krishnan, Suma; Fuentes, Ignacia; Guttmann-Gruber, Christina; McGrath, John A; Salas-Alanis, Julio C; Fertala, Andrzej; South, Andrew P Article The Journal of investigative dermatology (2019)
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. Cho, Raymond J; Alexandrov, Ludmil B; den Breems, Nicoline Y; Atanasova, Velina S; Farshchian, Mehdi; Purdom, Elizabeth; Nguyen, Tran N; Coarfa, Cristian; Rajapakshe, Kimal; Prisco, Marco; Sahu, Joya; Tassone, Patrick; Greenawalt, Evan J; Collisson, Eric A; Wu, Wei; Yao, Hui; Su, Xiaoping; Guttmann-Gruber, Christina; Hofbauer, Josefina Piñón; Hashmi, Raabia; Fuentes, Ignacia; Benz, Stephen C; Golovato, Justin; Ehli, Erik A; Davis, Christel M; Davies, Gareth E; Covington, Kyle R; Murrell, Dedee F; Salas-Alanis, Julio C; Palisson, Francis; Bruckner, Anna L; Robinson, William; Has, Cristina; Bruckner-Tuderman, Leena; Titeux, Matthias; Jonkman, Marcel F; Rashidghamat, Elham; Lwin, Su M; Mellerio, Jemima E; McGrath, John A; Bauer, Johann W; Hovnanian, Alain; Tsai, Kenneth Y; South, Andrew P Article Science translational medicine (2018)
Extracellular Vesicles as Biomarkers for the Detection of a Tumor Marker Gene in Epidermolysis Bullosa-Associated Squamous Cell Carcinoma. Sun, Yuchen; Woess, Katharina; Kienzl, Melanie; Leb-Reichl, Victoria M; Feinle, Andrea; Wimmer, Monika; Zauner, Roland; Wally, Verena; Luetz-Meindl, Ursula; Mellerio, Jemima E; Fuentes, Ignacia; South, Andrew P; Bauer, Johann W; Reichelt, Julia; Furihata, Tomomi; Guttmann-Gruber, Christina; Piñón Hofbauer, Josefina Article The Journal of investigative dermatology (2018)
Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations. Mellado F., Fuentes I., Palisson F., Vergara J. & Kantor A. Article CORNEA (2018)
Reduced Microbial Diversity Is a Feature of Recessive Dystrophic Epidermolysis Bullosa-Involved Skin and Wounds Fuentes I., Guttmann-Gruber C.; Tay A.S.L., PiÃ±Ã³n Hofbauer J.; Denil S.L.I.J., Reichelt J.; Palisson F., Common J.E.A. Article Journal of Investigative Dermatology (2018)
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance Fuentes, Ignacia; Campos, Mauricio; Repetto, Gabriela; Morande, Pilar; Yubero, Maria Joao; Gonzalez, Sergio; Klausegger, Alfred; Schnitzhofer, Peter; Pohla-Gubo, Gabriela; Bauer, Johann; Palisson, Francis Article ISI BRITISH JOURNAL OF DERMATOLOGY (2017)
Molecular epidemiology of junctional epidermolysis bullosa=> discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. Fuentes, I; Campos, M; Repetto, G; Morandé, P; Yubero, M J; Gonzalez, S; Klausegger, A; Schnitzhofer, P; Pohla-Gubo, G; Bauer, J; Palisson, F Article The British journal of dermatology (2017)
Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy. von Bischhoffshausen, Sofia; Ivulic, Dinka; Alvarez, Paola; Schuffeneger, Victor C; Idiaquez, Juan; Fuentes, Constanza; Morande, Pilar; Fuentes, Ignacia; Palisson, Francis; Bennett, David L H; Calvo, Margarita Article Brain => a journal of neurology (2017)
Horizontal genome transfer as an asexual path to the formation of new species Fuentes, Ignacia; Stegemann, Sandra; Golczyk, Hieronim; Karcher, Daniel; Bock, Ralph Article NATURE (2014)
Experimental Reconstruction of the Functional Transfer of Intron- Containing Plastid Genes to the Nucleus Fuentes, Ignacia; Karcher, Daniel; Bock, Ralph Article CURRENT BIOLOGY (2012)
A Nuclear Gene Encoding the Iron-Sulfur Subunit of Mitochondrial Complex II Is Regulated by B3 Domain Transcription Factors during Seed Development in Arabidopsis Roschzttardtz, H; Fuentes, I.; Vásquez M; Corvalán C.; León G.; Gómez I.; Araya, A; Holuigue, L; Vicente-Carbajosa, J; JORDANA, X Article ISI SCOPUS PLANT PHYSIOLOGY (2009)


INVESTIGATING THE ROLE OF SKIN MICROBIOME, HOST IMMUNITY AND INFECTION IN EPIDERMOLYSIS BULLOSA WOUND HEALING FONDECYT (1181093) Proyecto 2018-2022 Inv. Principal
Caracterización genética de pacientes chilenos con Epidermolisis Bulosa de la Unión=> búsqueda de mutaciones frecuentes y desarrollo de un test rápido de diagnóstico. Fondos Concursables Internos UDD 2014 (20131007124844236202) Proyecto 2014-2015 Inv. Principal
Desarrollo de una novedosa plataforma tecnológica para diagnosticar enfermedades genéticas=> uso de Epidermolisis Bulosa como prueba de concepto. Fondos Concursables PMI-UDD (2014_Med_PMI_CI_002) Proyecto 2014-2015 Inv. Principal
DETERMINING THE GENETIC BASIS OF EPIDERMOLYSIS BULLOSA SYMPTOMS THROUGH GENOTYPE-PHENOTYPE ASSOCIATIONS USING NEXT GENERATION SEQUENCING FONDECYT (11140440) Proyecto 2014-2017 Inv. Responsable
Implementación del método de inmunofluorescencia para EB=> Posicionando a Chile como foco regional en diagnóstico de EB. Fondos Concursables PMI-UDD (2014_Med_PMI_CI_006) Proyecto 2014-2015 Inv. Principal