Bone Abstracts

Biographical Details

Anna Villa is Chief of the Human Genome Unit at UOS/IRGB and is also responsible for a Research Unit at Telethon Institute for Gene Therapy (TIGET). Her group has also extensively contributed towards the molecular dissection of genetic bone disorders, focusing on autosomal recessive osteopetrosis (ARO). In particular she has identified TCIRG1 as the gene responsible for 60% of the ARO patients and contributed towards the characterization of two other forms of ARO due to a defect in the Grey Lethal and PLEKHM1 gene respectively. More recently her group has described RANKL and RANK as genes responsible for the osteoclast poor ARO. In addition, over the last 5 years, Dr A Villa’s group has pioneered the use of the oc/oc model to test in utero cellular therapy; this has established that prenatal correction of the defect is possible, since almost complete rescue of the phenotype has been achieved. The contribution of Dr A Villa in the molecular dissection of ARO has important implications not only for the molecular diagnosis, but also for the treatment of the disease.