A website for rare disorders

 

Informagene.it (on wayback machine)

 

Informagene.it was the first Italian website—and one of the first in Europe—to offer concise and easy-to-understand information about rare and genetic disorders. During its 10-year life (1998-2008) it helped thousands of people in the fight against rare genetic disorders. I am particularly proud of Informagene not only for its huge success, but also because it was my first full-fledged communication project.

 

Because most genetic diseases are rare, they are neglected by major private and public funding and even unknown by many doctors. It is not uncommon for people affected by such disorders to wait years before they receive an accurate diagnosis or find a support group.

 

My idea for Informagene came when I was a post-doc in Italy. Working with muscular dystrophies, I realised the importance of clear and updated information for the affected families. My plan was to create a website that would cover some of the 5,000 known genetic disorders and also create an accompanying email service to provide on-demand information on all others.

 

I proposed the idea to the Telethon Foundation, who supported the project enthusiastically, and set up the first working service in six months. Informagene became a leading site, scoring over 100,000 visitors each month. The email service was staffed by genetic counsellors who answered over 3,000 requests each year. It was featured on national TV and radio shows and was widely reported in the media. Some of its contents were translated in other languages and used by patients’ associations.

 

When I moved to other projects, Informagene continued its activity until it merged with Orphanet, a multi-language, pan-European platform on rare diseases. Telethon still maintains an email and phone help line.