An online support service providing information on rare genetic conditions for those who need it.
Info_rare is a free online support service for anyone requiring clear, reliable information on genetic conditions. The service benefits from medical and scientific consultation with two doctors who are specialists in medical genetics, and answer queries via e-mail from people who have discovered they have a rare genetic condition, or want information on research projects that are underway.
What questions can be answered?
- Info_rare provides information on centres for rare genetic conditions, diagnostic centres, and referral centres for registering patients.
- The latest news on trials in progress on genetic conditions and clinical testing by the Foundation.
- Contact details of associations for patients with a rare genetic condition.
Giulia graduated in Medicine and Surgery from Milan University and specialises in Medical Genetics. She works as a geneticist at the San Raffaele Hospital Genetics Department (Milan). She provides consultation in relation to prenatal diagnosis, hereditary tumours, paediatric genetics, and the genetics of cardiovascular illness. She has been a medical-scientific consultant at the Telethon Foundation since 2015.
Vera graduated in Medical Genetics from Milan University and specialises in this area of medicine. She works as a medical geneticist in the Medical Genetics Department at the Fondazione Ca' Granda Ospedale Maggiore healthcare facility in Milan. Since 2007 she has been the point of contact for genetic consultation at the cystic fibrosis referral centre at the Marchi Paediatric Clinic in Milan. She also provides consultation in relation to genetic diagnosis for infertile couples. She has been a medical-scientific consultant at the Telethon Foundation since 2006.
The response time of the geneticists is approximately one month.
This free service is designed to provide information and is not a genetic consultation, therefore a specific appointment with a specialist will still be necessary.