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.聽
The group of investigation belongs to the Biomedical Research Institute in Murcia (Instituto Murciano de Investigaci贸n 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.
Interesting topics: 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
Specific: In cooperation with Dr. Araujo and Dr. Requena we have already characterized the phenotype of a new syndrome with lipodystrophy and neurodegeneration associated to BSCL2. Currently we are progressing in clarifying the molecular mechanism involved in this distinc phenotype.