Rare Disease Day! Rare Researcher Fundraiser!

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Between our Facebook Fundraiser and direct donations we raised over $11k for this grant from more than 150 donors! We’re excited to get started organizing the details of this grant. We want to make sure we carefully align the RFA with semester boundaries for what we expect will be a student project. And, we’ll make sure we provide guidance and suggestions for research that can provide the most immediate impact and leverage our new tools and collaboration. From everyone at the AGSAA, Thank You for your support!

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Today is Rare Disease Day! Share the news! This Rare disease community is looking for that rare, young researcher to spark a life-long passion for Aicardi-Goutieres Syndrome (AGS). Every dollar we raise on this #RareDiseaseDay will fund a grant to help us capture the heart of the next AGS expert.

AGS Dads Unite!

Last evening we had our second virtual AGS Dads meetup. Twelve AGS dads joined to talk about what’s going on in our lives. And, as Matt N. so astutely pointed out, after more than three hours of conversation we haven’t talked once about our jobs!

To join us, e-mail ags-dads@agsaa.org.

AGS Community Driven Innovation and the Patient Registry

An important and critical part of our Patient Registry Project’s success will involve Luna’s Community Driven Innovation program (CDI). We’ve already begun interviewing families to gather perspectives about the topics and issues most important to AGS families. With models produced by CDI, the AGSAA will be given approval by the Genetic Alliance Institutional Review Board (IRB) to move more quickly with surveys and questions for topics that will be considered to be of validated importance to AGS. With interviews in-progress, we expect to be able to share models in March!

Rare Disease Day Fundraiser for the AGSAA Rare Researcher Grant

We are looking for a Rare Kind of Scientist…

On this Rare Disease Day we will be fundraising to establish a young researcher grant. By funding a scientist and/or clinician early in their careers, we hope to spark a life-long passion for Aicardi-Goutieres Syndrome.

It is our goal for Rare Disease Awareness Day to raise $28,000 to fund a research project from a medical student or doctoral candidate that will enhance our knowledge of AGS and can inspire young professionals in the medical field to pursue a career in Leukodystrophy research–specifically with the goal of eradicating AGS. 

Next Step for the Patient Registry, a COVID/Pandemic Study

We’d like to thank everyone that has enrolled in the AGS Patient Registry! We’re writing a COVID/Pandemic study now to catalog, among a few other things, experiences with COVID infection and vaccines in AGS. This information will be invaluable to AGS families that have been forced to navigate a difficult pandemic with fears of dangerous comorbidities and a disease stimulated by viruses and (potentially) by COVID vaccines. Based on community feedback, we’ll begin by collecting data about outcomes with COVID vaccines to help build a risk/safety profile that will go along with Dr. Adeline Vanderver’s in vitro experiments with AGS tissue samples and mRNA vaccines.

Have you joined our Facebook Group? AGS families use this group to keep up with information, tips, suggestions, etc. and to talk with the few other people that really understand what living with AGS is like.

Post Symposium Update

This is what success looks like!

From our perspective, our 2022 AGS Family Symposium was a wild success. We shared updates, stories, and research with over one hundred people. We’ve received such supportive feedback that it truly motivates us to keep up the advocacy and underscores the value of bringing our humanity to this work.

Feedback

We would like your feedback about the conference so that we can do better next time and ensure that we’re meeting the needs of all AGS families across the globe. It should only take a moment.

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Video ShowCase

We’ve shared a playlist of conference recordings, in order, as a Vimeo Showcase. Although we’re unable to share our breakout rooms, you’ll find a wealth of information and insight in our many conversations and presentations.

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Translated Subtitles

Some of the conferences recordings have been transcribed and translated with subtitles. You can watch many of them in your language by enabling Vimeo’s Closed Captioning “CC”.

We have prioritized the translation of videos and presentations that we felt were the most clinically relevant. We will include additional languages and videos by request.

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Polling Results

During the conference, we asked AGS families a number of questions to illustrate and validate what we all know, that AGS presents significant challenges to families.

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AgS Patient Registry

The most important thing we can all do for each other this year is enroll and participate in the AGS Patient Registry. We’ve seen many of you register, and we’re hoping to follow up with surveys to inform each other about COVID-19 vaccination safety shortly.

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Congratulations to our Raffle Winners

We’ve contacted everyone that won a t-shirt during our wheel of names giveaways. If, for some reason, you haven’t heard from us, contact info@agsaa.org and we’ll get it straightened out. We hope you wear your AGS t-shirt with pride.

Patient Registry Enrollment Picks Up Speed!

Thank you to everyone that has created accounts and consent to the AGS Patient Registry. We’re thrilled by the progress in the first week or two. We’ve already surpassed our original goal of enrolling 50 AGS individuals. By enrolling early, you’ve given us the freedom to focus on insights over recruitment. Thank you!

AGSAA, Biogen, LunaPBC, and Genetic Alliance Launch Community-Led Discovery Program for Aicardi-Goutières Syndrome

Many of you may already know that we recently launched an AGS patient registry, and we’re actively working with our partners to develop studies and gather insights. This morning we jointly published a press release to let everyone know of our promising collaboration.

“With committed community engagement and thoughtful stewardship of our data, we will finally have what we need to tell our story and begin to write a different ending.”

— Devon Cordova, Vice President, AGSAA

2021 ACR and EULAR Recommendations Regarding Diagnosis and Treatment of AGS

The American College of Rheumatology and the European Alliance of Associations for Rheumatology have published recommendations for diagnosing, managing, and treating type 1 interferonopathies like Aicardi-Goutieres Syndrome. The AGSAA’s own Devon Cordova participated in this working group that brought experts together to review literature, consider patient perspectives, and publish recommendations for a group of rare diseases that includes AGS.