Encarna Guillén Navarro

I am a doctor specialising in paediatrics and clinical genetics, with training at New York University (NYU Medical Center) and accreditation by the Asociación Española de Genética Humana (AEGH). Currently, I manage the Genetics Area and coordinate the ÚNICAS Project at SJD Barcelona Children's Hospital. I have been head of Medical Genetics (2014-2022) and head of the Paediatrics Service (2022-2024) at the Hospital Clínico Universitario Virgen de la Arrixaca in Murcia.

I lead a research group in genomic medicine and rare diseases at the Instituto Murciano de Investigación Biosanitaria (IMIB) and I am head of the clinical group linked to CIBERER. I have participated in numerous national translational genomic research projects, and I am PI of several competitive research projects and clinical trials. I am also a professor at the University of Murcia. I am president of the AEGH and vice-president of the Medical Genetics Section of the UEMS. I am coordinator of the national mirror group on rare diseases (ISCIII) of the European initiative Beyond 1+ Million Genomes and member of the working group of the current National Strategy on Rare Diseases.

I actively collaborate in scientific committees and with patient associations. I have been a member of the Spanish Bioethics Committee and of the National Commission on Assisted Human Reproduction (2018-2022). I have received recognition for my work in research, dissemination and in the field of rare diseases and disability.

Training

• Master's degree in Health Management, 2019.
• PhD in Public Health and Preventive Medicine, 2000.
• Degree in medicine and surgery with specialisation in paediatrics, 1994.

International experience

• Fellowship in Clinical Genetics, New York University-NYU Medical Center, 1997.

Scientific activity

More than 150 published articles and several book chapters. Four six-year research fellowships, eight supervised theses and eight final degree theses.

Teaching

• Professor of Paediatrics, Universidad de Murcia.
• Professor, PhD contract, Universidad de Murcia, 2022.
• Director of the chair of Medical Genetics, UCAM, 2015.
• Associate professor of Health Sciences, Universidad de Murcia, 2013.
• Instructor in Human Genetics, New York University School of Medicine, 1996.