Welcome to ATIC Gene Lighthouse
As of October 2019 there were only two known cases of the ATIC genetic mutation affecting individuals worldwide resulting in a disorder known as ATIC deficiency or AICA Ribosiduria: one documented case in France and the other in the United States. A paper published in June 2020 brought that number up to five and another two papers in 2022 has increased it to eight! The purpose of this site is to help locate and build a community around this rare genetic mutation as well as be a point of contact for researchers who are interested in exploring how ATIC gene mutations manifest themselves in different individuals.
In 2023 this site helped us locate number nine in Canada, another paper was published to identify number ten in Germany in 2024, and number eleven was found through this site in the US!
In 2023 this site helped us locate number nine in Canada, another paper was published to identify number ten in Germany in 2024, and number eleven was found through this site in the US!
And so it begins...The first step in building a community is creating a space for people to meet. If you are affected or interested in this genetic community, please complete the contact form and let us know who you are!
Early on RareConnect was an amazing resource and helped us make the first connections. It is now retired, but the site is still online: www.RareConnect.org |
Rare Disease AdvocacyEach year, the last day in February is designated as Rare Disease Day. Even if you are not directly affected by a rare disease, do your part to help raise awareness!
Rare Disease Day |
We are here to bring the ATIC gene mutation community into the light.