"GNAO1: one gene, several disease" - GNAO1 Families - € 25,000
UniCredit Foundation supports the GNAO1 Families Association because it is important to support scientific research for the treatment of the rarest paediatric diseases
The UniCredit Foundation decided to support the GNAO1 Family Association in 2020, to help develop a research project designed to improve the
diagnostic possibilities of GNAO1, a genetic disease that affects children from a very early age.
The project aims to fill the gaps that still characterize this rare disease and identify molecules and drugs that can restore the normal function of the GNAO1 gene.
A team of Italian researchers are working with the Italian Association of GNAO1 Families, using their specializations and skills to shed light on the unknown clinical and molecular aspects of this disease. The contribution of € 25,000 aims to support this research, a first step to improving the diagnosis of this disease.
GNAO1 is a rare neurological disorder caused by mutations of the GNAO1 gene, symptoms can occur as early as the first days of a newborn's life.
It was discovered in 2013 by a group of Japanese researchers and about 200 children have been diagnosed with the disease around the world (about 15 in Italy). It is therefore a very recent problem and has no effective therapy to date.
GNAO1 children exhibit a psychomotor delay, accompanied by hypotonia, epilepsy and/or movement disorders, which compromise normal life
The Partner, GNAO1 Families Aps
The GNAO1 Families Association was established in 2019, by a group of families who are living with the rare disease GNAO1 gene mutation.
These families have come together to sha re their experiences and support each other with the primary aim of providing the best possible quality of life for their family members affected by this pathology. This association wants to be a reference point for new families with the same diagnosis, where they can find support and share