Our Team
Our History
Our History
Our amazing team of volunteers are committed to helping others. We take our convictions and turn them into action. Think you would be a good fit? Get in touch for more information!
Our History
Our History
Our History
Together with amazing volunteers, families, donors, doctors and researchers we want to make a difference in the lives of those suffering with TANGO2 Deficiency Disorder. The Foundation was created to raise funds to help Bria and others like Bria live the best life possible with this life limiting disease.
Our Mission
Our History
Our Mission
The Canadian TANGO2 Rare Disease Foundation's mission is to improve the lives of those patients and families affected by TANGO2 related disease through advocacy, research and support.
Help Our Cause - Donate Today
We stand with those affected by TANGO2 Deficiency Disorder. The Canadian TANGO2 Rare Disease Foundation is dedicated to improving lives through advocacy, research, and support for individuals and families facing this rare condition.
We need your help to continue making a difference. Join us in our fundraising campaign to fund crucial research and provide much-needed resources for the TANGO2 community.
Donate today at: https://www.zeffy.com/fundraising/support-rare-disease-day-donate-to-make-a-difference.
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Together, we can make an impact!
#TANGO2mission
TANGO2 Deficiency disease publications
Publications
2024
- TANGO2 Research Foundation Poster Abstracts 2024 – TANGO2 Family Conference – Disney’s Coronado Springs Resort – June 23 – 25, 2024. Therapeutic Advances in Rare Disease. 2024;5.
- Gaillard, J. R., Whitt, Z., Selwa, L. M., Harris, D., & Lee, K. N. (2024). Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications. American Academy of Neurology.
- Niu, M. C., Etheridge, S. P., Tristani-Firouzi, M., Miyake, C. Y. (2024). Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know. Cardiac Electrophysiology Clinics, 16(2), 195-202.
- Xu, W., Cao, Y., Stephens, S. B., Arredondo, M. J., Chen, Y., et al. (2024). Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder. JCI Insight.
- Calbiac, H. de, Montealegre, S., Straube, M., Renault, S., Debruge, H., Chentout, L., Ciura, S., et al. (2024). TANGO2-Related Rhabdomyolysis Symptoms Are Associated with Abnormal Autophagy Functioning. Autophagy Reports.
- Walters, B., McConkey, N., & Imundo, J. R. (2024). TANGO2: A Rare but Important Mutation. The Journal of Innovations in Cardiac Rhythm Management.
- Sacher M, DeLoriea J, Mehranfar M, Casey C, Naaz A, Gamberi C. (2024). TANGO2 deficiency disease is predominantly caused by a lipid imbalance. Dis Model Mech.
- Arredondo Sancristobal, M. J., Chen, Y., Hoyt, W. J., Beach, C., Meisner, J. K., de la Uz, C. M., et al. (2024). Nutritional vitamin supplementation is an alternative antiarrhythmic approach to prevent and treat lethal TANGO2 deficiency disorder related ventricular arrhythmias during inpatient admission. Heart Rhythm.
- Miyake, C. Y., Mackenzie, S. J., & Zhang, L., (2024). Top Stories on arrhythmias in TANGO2 deficiency disorder. Heart Rhythm.
- Mehranfar, M., Asadi, P., Shokohi, R., Milev, M. P., Gamberi, C., & Sacher, M., (2024). Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease. Biochemical and Biophysical Research Communications
- Li, H., Xu, Z., Guo, J., Zhang, P., Dong, X., & Zhao, L. (2024). Vitamin B5 monotherapy improves symptoms in a 7-year-old girl with TANGO2 deficiency disorder. American Journal of Medical Genetics Part A.
2023
- Sandkuhler, S. E., Zhang, L., Meisner, J. K., Ghaloul-Gonzalez, L., Beach, C. M., Harris, D., de Lonlay, P., Lalani, S. R., Miyake, C. Y., & Mackenzie, S. J. (2023). B-complex vitamins for patients with TANGO2-deficiency disorder. Journal of Inherited Metabolic Disease.
- Owlett, L. D., Zapanta, B., Sandkuhler, S. E., Ames, E. G., Hickey, S. E., Mackenzie, S. J., & Meisner, J. K. (2023). Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A.
- DeLoriea, J., Millet-Boureima, C., Gamberi, C. (2023). Protocol to build a drug-testing pipeline using large populations of Drosophila melanogaster. STAR Protocols.
- Kim, E. S., Casey, J. G., Tao, B. S., Mansur, A., Mathiyalagan, N., et al. (2023). Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2. Disease Models & Mechanisms.
- Miyake, C. Y., Ehsan, S., Zhang, L., Mackenzie, S., Azamian, M., et al. (2023). Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. American Journal of Medical Genetics.
- Yılmaz-Gümüş, E., Elcioglu, N. H., Genç, E., Arıcı, Ş., Öztürk, G., et al. (2023). Management of acute metabolic crisis in TANGO2 deficiency: A case report. Journal of Pediatric Endocrinology and Metabolism.
- Lujan, A. L., Foresti, O., Sugden, C., Brouwers, N., Farre, A. M., et al. (2023). Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism. eLife.
- Miyake, C. Y., Lay, E. J., Soler-Alfonso, C., Glinton, K. E., Houck, K., et al. (2023). Natural history of TANGO2 deficiency disorder- Baseline assessment of 73 patients. Genetics in Medicine, 25(4).
- Lalani, S. R., Graham, B., Burrage, L., Lai, Y., Scaglia, F., et al. (Updated 2023, March 9). TANGO2-related metabolic encephalopathy and arrhythmias. GeneReviews® [Internet].
- Gomes, S., Laranjo, S., Trigo, C., & Pinto, F. F. (2023). The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: A case report. European Heart Journal – Case Reports, 7(2).
2022
- Sandkuhler, S. E., Zhang, L., Meisner, J. K., Ghaloul-Gonzalez, L., Beach, C. M., et al. (2022). B-complex vitamins for patients with TANGO2-deficiency disorder. Journal of Inherited Metabolic Disease.
- Casey, J. G., Kim, E. S., Tao, B. S., Mansur, A., Wallace, E. D., et al. (2022, November 12). Glycerolipid defects in skeletal muscle contribute to rhabdomyolysis in Tango2 deficiency. bioRxiv.
- Lujan, A., Foresti, O., Brouwers, N., Farre, A. M., Vignoli, A., et al. (2022, November 5). Defects in lipid homeostasis reflect the function of TANGO2 in acyl-coA metabolism. bioRxiv.
- Asadi, P., Milev, M. P., Saint-Dic, D., Gamberi, C., & Sacher, M. (2022, November 4).Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells. Journal of Inherited Metabolic Disease, 46(2), 358-368.
- Yokoi, K., Nakajima, Y., Takahashi, Y., Hamajima, T., Tajima, G., et al. (2022). Transport and golgi organization 2 deficiency with a prominent elevation of C14 during a metabolic crisis: A case report. JIMD Reports, 1–7.
- Miyake, C. Y., Lay, E. J., Beach, C., Ceresnak, S. R., Delauz, C. M., et al. (2022). Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises. Heart Rhythm, 19(10), 1673–1681.
- Zhang, L., Xu, W., Cao, Y., Yu, A., Kim, J., et al. (2022, June 22). Folate ameliorates arrhythmia in patient-derived TANGO2-deficient iPSC-cardiomyocytes. Research Square.
- Murali, C. N., Lalani, S. R., Azamian, M. S., Miyake, C. Y., & Smith, H. S. (2022). Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias. European Journal of Human Genetics, 30(9), 1044–1050.
- Heiman, P., Mohsen, A. W., Karunanidhi, A., St Croix, C., Watkins, S., et al. (2022). Mitochondrial dysfunction associated with TANGO2 deficiency. Scientific Reports, 12(1).
2021
- TANGO2-related metabolic encephalopathy and arrhythmias. (2021, November 8). Genetic and Rare Diseases Information Center.
- Powell, A. R., Ames, E. G., Knierbein, E. N., Hannibal, M. C., & Mackenzie, S. J. (2021). Symptom prevalence and genotype-phenotype correlations in patients with TANGO2-related metabolic encephalopathy and arrhythmias (TRMEA). Pediatric Neurology, 119, 34–39.
- Schymick, J., Leahy, P., Cowan, T., Ruzhnikov, M. R. Z., Gates, R., Fernandez, L., et al. (2021). Variable clinical severity in TANGO2 deficiency: Case series and literature review. American Journal of Medical Genetics Part A, 188A(2), 473–487.
2020
- It takes two to TANGO2. (2020, December 4). Journal of Inherited Metabolic Disease.
- Bérat, C., Montealegre, S., Wiedemann, A., Nuzum, M. L. C., Blondel, A., et al. (2020). Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Journal of Inherited Metabolic Disease, 44(2), 415–425.
- Milev, M. P., Saint-Dic, D., Zardoui, K., Klopstock, T., Law, C., et al. (2020). The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. Journal of Inherited Metabolic Disease, 44(2), 426–437.
- Mingirulli, N., Pyle, A., Hathazi, D., Alston, C. L., Kohlschmidt, N., et al. (2020). Clinical presentation and proteomic signature of patients with TANGO2 mutations. Journal of Inherited Metabolic Disease, 43(2), 297–308.
2019
- Jennions, E., Hedberg-Oldfors, C., Berglund, A., Kollberg, G., Törnhage, C., et al. (2019). TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. Journal of Inherited Metabolic Disease, 42(5), 898–908.
- Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., et al. (2019). TANGO2: Expanding the clinical phenotype and spectrum of pathogenic variants. Genetics in Medicine, 21(3), 601–607.
2018
- Lalani, S. R., Graham, B., Burrage, L., Lai, Y., Scaglia, F., et al. (2018, December 20). TANGO2-related metabolic encephalopathy and arrhythmias. GeneReviews® [Internet].
2016
- Lalani, S., Liu, P., Rosenfeld, J., Watkin, L., Chiang, T., et al. (2016). Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations. The American Journal of Human Genetics, 98(2), 347–357.
- Kremer, L., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., et al. (2016). Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. The American Journal of Human Genetics, 98(2), 358–362.
2008
- Maynard, T. M., D. W. Meechan, M. L. Dudevoir, et al. 2008. “Mitochondrial Localization and Function of a Subset of 22q11 Deletion Syndrome Candidate Genes.” Molecular and Cellular Neurosciences 39:439–451.