End fatal neurological disease
Rare Trait Hope Fund
Rare Trait Hope Fund is a 501(c)(3) non-profit organization (EIN 46-2762646) founded in 2013. Our mission is
to facilitate research, raise funds and support development of treatments and a cure for Aspartylglucosaminuria (AGU);
to be the resource for doctors, scientists and families world-wide;
to increase awareness of rare diseases in general and Aspartylglucosaminuria in particular.
Rare Trait Hope Fund gives grants to groups and organizations that work directly on finding a cure and/or developing a treatment for Aspartylglucosaminuria. We do not cover indirect (overhead) costs on any research grants. If you are interested in the work related to Aspartylglucosaminuria, please contact us at agu(at)raretrait.com.
Together we can achieve our goals and stop fatal diseases. Summary of our progress is here.
Published research funded by us
Melanie Meister and Ritva Tikkanen (2014) Endocytic Trafficking of Membrane-Bound Cargo: A Flotillin Point of View. Membranes 2014, 4(3), 356-371. https://doi.org/10.3390/membranes4030356
Banning, A., Gülec, C., Rouvinen, J. et al. Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria. Sci Rep 6, 37583 (2016). https://doi.org/10.1038/srep37583
Banning, A.; König, J.F.; Gray, S.J.; Tikkanen, R. Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production. Int. J. Mol. Sci. 2017, 18, 706. https://doi.org/10.3390/ijms18040706
Antje Banning, Manuel Schiff, Ritva Tikkanen (2018), Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria. Biochimica et Biophysica Acta, 1864:668-675. https://doi.org/10.1016/j.bbadis.2017.12.014
Goodspeed, K., Harder, L., Hughes, S., Conger, D., Taravella, J., Gray, S.J. and Minassian, B. (2018), Optical coherence tomography features in brothers with aspartylglucosaminuria. Ann Clin Transl Neurol, 5: 1622-1626. https://doi.org/10.1002/acn3.672
A. Tokola, M. Laine, R. Tikkanen and T. Autti (2019), Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria. American Journal of Neuroradiology Nov 2019, 40 (11) 1850-1854. https://doi.org/10.3174/ajnr.A6288
Xin Chen, Sarah Snanoudj-Verber, Laura Pollard, Yuhui Hu, Sara S. Cathey, Ritva Tikkanen, Steven J. Gray, Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation, Molecular Therapy, Volume 29, Issue 3, 2021, Pages 989-1000, https://doi.org/10.1016/j.ymthe.2020.11.012.
Meeting in Finland, 2012
non-Finnish AGU patients
Our journey started in September 2012, when Julia and her family went to Finland to talk to doctors who have knowledge of Aspartylglucosaminuria and other AGU families. A lot of AGU research was done in Finland, where a lot of families with AGU children live. During their stay in Finland, Julia and her family met with a family from France whose daughter Hermance had been diagnosed with AGU just a few months prior. It feels good to know that you are not alone in this world! During the trip they learned that most of the AGU research efforts had stopped due to lack of funding and/or interest and no group was working to develop a treatment for AGU.
At the end of the trip to Finland, the two families decided to work on a solution and save their kids’ lives! We interviewed a lot of researchers and discussed ideas about the development of an AGU treatment and agreed on a way forward.
Soon after, we set up a non-profit 501(c)(3) organization in the US and in France with a mission to raise funds to offer hope and an eventual treatment for every person affected by Aspartylglucosaminuria.
Now, we have a presence or an organization in many more countries, including Canada, Switzerland, Spain, Australia, Chile, India. We are developing the cure together with your help. Please, donate.