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Projects. Life and Matter Sciences

Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders

Lead Researcher:
Marcos Malumbres Martínez  

Research Centre: 
Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid. (Spain).


Marcos MalumbresAmong the syndromes characterised by neurological defects, this work has focused on that accompanied by the recurrent deletion of a pericentromeric region on chromosome 16 (16p11.2-p12.2). The loss of this fragment in only one allele produces a syndrome with mental retardation, craniofacial abnormalities and cardiovascular problems in children. This chromosomal region includes the Polo-like kinase gene 1 (Plk1), which encodes a cell cycle kinase involved in centrosome maturation and segregation, as well as progression through the different phases of mitosis. Plk1 (+/-) heterozygous mice have been developed, which develop various cardiovascular and craniofacial abnormalities and behavioural problems. The aim is therefore to characterise the relevance of Plk1 with this syndrome by analysing the asymmetric division of neuroblasts discussed in detail in cellular studies using conditional deletion of Plk1 in the nervous system. 


17 articles published in Journals
14 papers at national conferences 
13 papers at international conferences

Marcos Malumbres Martínez  
Ph.D. in Biology from the University of León. He spent research sojourns at the Centre for Molecular Biology in Heidelberg and New York University Medical Centre in New York; Dr. Malumbres joined the National Cancer Research Centre as a researcher in 1999. In 2003, Dr. Malumbres obtained by competitive examination a place as a senior scientist with the National Science Research Council (CSIC). Since 2004, Dr. Malumbres has been the Head of the Cell and Cancer Division Group, National Research Centre (CNIO). His professional activity in the last five years has been focused on research into the origin and development of tumours, specifically how cancer cells grow and multiply to form tumours. In particular, the group investigates the molecular mechanisms of cell cycle control by protein kinases and phosphatases and protein degradation mechanisms, as well as the role of microRNAs in cell division and tumour growth. Scientific research conducted in recent years has been funded by various national and international agencies (Research Framework Programme of the European Union, Ministry of Innovation and Science and the Spanish Association for Cancer Research as well as the Ramón Areces Foundation). His scientific production has been published in more than 70 scientific articles in international journals. In several cases, this research has been featured nationally and internationally in newspapers and television. Dr. Malumbres has received several awards for his scientific work including the Juan Abelló Prize from the Royal Academy of Doctors in Spain and the Beckman-Coulter Award from the Spanish Society for Biochemistry and Molecular Biology. 
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