News and Announcements

2025 Annual Report We are happy to report that 90.9% of funds from 2025 were directly spent on research. We want all our supporters to have full confidence in where their funds are going and ensure the impact of your support is felt. We wouldn't be where we are today without the financial support we've received. Rare disease research has very little funding, which means the funds and push has to come from us. We're very proud of all we accomplished in 2025 and look forward to

2025 SPATA Foundation Family Conference Registration for the 2025 SPATA Foundation Family Conference is now OPEN! We'll be hosting a Family Conference this November 7,8, and 9th in Boston, Massachusetts, USA! ALL INFO INCLUDING REGISTRATION CAN BE FOUND HERE: https://www.spatafoundation.org/2025-conference The conference will be held on November 8th at DoubleTree by Hilton Boston Logan Airport Chelsea. Dates say 7, 8, and 9th because we will have a hotel block for nights of t

Hi everyone! I wanted to post some updates for the new year. Yes, I know it’s already February😅 Please forgive me, I got a new job, underwent Egg Retrieval for IVF, Luca and I both battled RSV, and now we’re ending a 3 week intensive therapy session for Luca. First I want to highlight updates from some projects we’ve been talking about: Rare Disease Day Rare Disease Day is February 28th! This is an international campaign that brings attention to rare diseases and we need to

Patient Registry Our international Patient Registry is LIVE through CoRDS . This is an important first step in gathering valuable data about symptoms and disease presentation. Families from any country can register. You will create an account and be able to log in and update/change things at anytime. CoRDS provides a secure way for participants to share their data (with personally identifiable information removed) with researchers. We will gather things like symptom onset & s

Patient Registry We will be hosting our Patient Registry through CoRDS . CoRDS provides a secure way for participants to share their data (with personally identifiable information removed) with researchers. We will gather things like symptom onset & severity, medication/treatments that work or don't work, imaging & testing history, and more. I recently did a demo of it and submitted a final round of edits. This is in the final stages and is expected to launch around the end o

A Message from Mariah George, Founder & Director Hello SPATA Families! I understand I throw a lot of information out, so I'm going to make a long post and try to explain the things we're working on in detail! Please never hesitate to reach out or ask questions! The SPATA Foundation is for ALL SPATA families! Please understand on top of The Foundation, I am a mother to Luca and I also work full time. I try my best to keep everyone updated, but a lot of what I do is emails/call

Our goal as The SPATA Foundation is to advance research and keep families informed as we do so. Please direct any questions to info@spatafoundation.org Summary of Information We are officially getting MOUSE MODELS! Jax Labs has agreed to create two CRISPR engineered mouse models, one for SPATA5 and one for SPATA5L1. These mice will take about a year to engineer & will be able to be used in all kinds of research! We are continuing to pursue the drug repurposing project that w

Our goal as The SPATA Foundation is to advance research and keep families informed as we do so. Please direct any questions to info@spatafoundation.org Summary of Information A recent meeting with a group of researchers from the US, UK, and Germany provided some great insight on current research they’re doing on SPATA5 and SPATA5L1, and we wanted to provide everyone with information we gathered. The Human Gene Nomenclature Committee is renaming SPATA5 and SPATA5L1. SPATA5 wi