Renieri Alessandra

Her main research interest has always been the study of the molecular bases of INTELLECTUAL DISABILITIES, with a special focus on X-linked forms, and in 2002 her group identified a new gene involved in this heterogeneous condition, ACSL4. Her laboratory was among the first in Italy to introduce array-CGH analysis for the study of intellectual disability. She has been involved in research on RETT SYNDROME for many years and she contributed to the identification of all 3 known genes presently associated to the disease, as well as to the definition of the associated clinical phenotype. In particular, her group identified FOXG1 as the first autosomal gene involved in Rett syndrome. Her laboratory is a referral center for Rett in Italy and, since 2002, she directs a biobank dedicated to Rett syndrome that collects both samples and accurate patients clinical information. Since 2009 she coordinates the international Rett database network (http://www.rettdatabasenetwork.org). In order to create a human cellular model for the study of the pathogenic mechanisms of Rett syndrome directly in human affected neurons, she recently set up the technique of genetic reprogramming in her laboratory (iPS). 

Other research interest:

• ALPORT SYNDROME
• COHEN SYNDROME
• RETINOBLASTOMA
• OCULAR ALBINISM
• GLAUCOMA
• LEIOMYOMATOSIS
• BENIGN FAMILIAL HEMATURIA
• MICRODELETIONS / MICRODUPLICATIONS SYNDROMES