Ginevra Zanni MD. PhD
Member of the European Reference Network – Rare Neurological
Diseases (ERN-RND) and other international networks for the
study of Ataxias.
Staff Medical and Research Scientist at the Department of
Neurosciences, Bambino Gesù Children’s Hospital, Rome, Italy.
My scientific carrier has been devoted to the screening and
identification of new genes involved in rare neurodevelopmental
disorders and to the characterization of physiopathological
mechanisms and genotype- phenotype correlates. I currently
mainly work on pediatric ataxias and neurodevelopmental
disorders.
The loss of Oligoprenin-1 (OPHN1) causes intellectual disability and cerebellar hypoplasia. To better understand this rare disorder, we established OPHN1-patients induced pluripotent stem cells (iPSCs) and rescued the cellular phenotype by treatment with inhibitors of the ROCK pathway. Thanks to the initiative of patients and their families we have launched dedicated websites for informing patients and developing new projects. The OPHN1 website in Italian can be found here and the english version here
It is really important to raise awareness about rare diseases. To achieve it, a constant, motivated and effective collaboration between patients’ families, policy makers and rare disease professionals is essential.
