SLC6A1 Connect is a patient advocacy group dedicated to improving the lives of children and families affected by a SLC6A1 mutation. Our focus is to raise awareness and fundraising to advance scientific research that will ultimately result in a cure.
We are thrilled to announce a partnership with Dr. Steven Gray from UT Southwestern to develop gene replacement therapy to treat the SLC6A1 mutation. Read more here: Click Here
Patient families can find helpful resources here on our web site, including diet therapy information, videos of SLC6A1 characteristics, and information for newly diagnosed families.
Researchers can find information about working with us, our grant program, available mice, and scientist FAQs.
By helping to connect SLC6A1 families, we hope to provide support for existing families and those who are newly diagnosed. You can join us on facebook here. You can also read through “our stories” to learn about other SLC6A1 families.
Through our advocacy campaign, we hope to elevate awareness of SLC6A1, help facilitate the consolidation of research and treatment efforts, and promote optimization of patient outcome. An important part of this campaign has been the attendance of important events in the gene and rare disease communities, including a gene therapy panel at the National Institutes of Health, the 2018 Global Genes Rare Patient Advocacy Summit in Irvine, and the NORD Rare Summit in Washington D.C.
Perhaps the most important part of our mission, fundraising allows us to fund the research necessary to find a cure for SLC6A1. If you would like to make a donation, please click Here. We encourage SLC6A1 families to join in the fundraising effort. If you have ideas or a way to help, please contact Amber Freed at 303-907-8038, or e-mail firstname.lastname@example.org.