Encarna Guillén-Navarro, MD, PhD

Clinical Genetics and Rare Diseases
Hospital Clínico Universitario Virgen de la Arrixaca. Murcia. Faculty of Medicine, University of Murcia
Ctra Madrid-Cartagena, s/n. 30120 El Palmar (Murcia)
Phone: +34 968369042 / +34 637072821

Team

Encarna Guillén-Navarro, MD, PhD 
María Rosario Domingo-Jiménez, MD
María Juliana Ballesta-Martínez, MD
Vanesa López-González, MD

Equipment and facilities of the group and centre

The Medical Genetics Unit and Neuropediatric Section assembles all patient care, teaching and research activities in the field of genetic, metabolic and /or neurologic syndromes, specially in infancy but also in adulthood, at the University-Hospital of Virgen de la Arrixaca in Murcia. 

The group of investigation belongs to the Biomedical Research Institute in Murcia (Instituto Murciano de Investigación Biosanitaria or IMIB) which comprises complementary teams working in other major fields ranging from genetics to cell therapy. IMIB includes animal facility and technologic platforms dedicated to genetics, molecular and cellular biology. In addition, it possesses several culture rooms, freezers and biobank.

Topics of interest

We are interested to know the phenotype and molecular mechanism involved in the onset of lipodystrophy and neurodegeneration in patients with BSCL2.

General: Rare genetic disorders and syndromic forms of lipodystrophy