NAF has launched a petition on Change.org calling on the FDA to prioritize treatment options for rare diseases with urgent unmet needs, including Spinocerebellar Ataxia (SCA).
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Escrito por el Dr. Ronald Buijsen Editado por la Dra. Larissa Nitschke. Publicado inicialmente en el 28 de Enero de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. O’Callaghan y sus colegas muestran que los enfoques terapéuticos novedosos para reducir la proteína que causa la enfermedad en Read More…
Written By Dr. David Bushart Edited by Celeste Suart The RISCA study will help researchers design smarter, more efficient clinical trials by teaching us about the very early stages of SCA Ataxia research has grown significantly in recent years. Although much work still remains, we are gaining a better understanding Read More…
Written by Dr. Ronald Buijsen Edited by Dr. Larissa Nitschke O’Callaghan and colleagues show that novel therapeutic approaches to reduce the disease-causing protein in SCA1 do not increase the risk of developing cancer or Alzheimer’s disease in SCA1 mice. People affected with Spinocerebellar Ataxia type 1 or SCA1 carry an Read More…
Written by Stephanie Coffin Edited by Dr. Brenda Toscano Ataxin-1 may not be the only protein important in driving neurodegeneration in SCA1 Why does a protein that cause disease only cause toxicity in specific regions of the brain, despite being in all cells of the body? This is the question Read More…
Written by Brenda Toscano Marquez Edited by Marija Cvetanovic Insoluble clumps of mutated ataxin-1 capture essential proteins and trigger the creation of toxic reactive oxygen species. All proteins produced by our cells consist of long chains of amino acids that are coiled and bent into a particular 3D structure. Changes Read More…
Principal Investigator: Dr. Willeke van Roon-Mom Location: Leiden University Medical Centre, Leiden, The Netherlands Year Founded: 1995 What disease areas do you research? SCA1 SCA3 Huntington’s Disease Dutch – Cerebral Amyloid Angiopathy Alzheimer Disease What models and techniques do you use? Mouse Models hiPSC-derived stem cells models Post-mortem patient tissue Read More…
Principal Investigator: Dr. Ray Truant Location: McMaster University, Hamilton, Ontario, Canada Year Founded: 1999 What disease areas do you research? SCA1 SCA7 Huntington’s Disease Parkinson’s Disease What models and techniques do you use? Human cell biology High content screening Biophotonics Microscopy Research Focus What is your research about? We are Read More…
Written by Dr. Amy Smith-Dijak Edited by Logan Morrison Basic biology helps identify a new treatment for ataxia Drug design doesn’t always have to start with a blank slate. Sometimes understanding how existing drugs work can help researchers to design new ones, or even to recombine old drugs in new Read More…
Written by Kim M. Gruver Edited by David Bushart What’s cognition got to do with ataxia? Could the cerebellum mediate both cognitive and motor symptoms in the same disease? And how can scientists use mice to find out? Spinocerebellar ataxia type 1, or SCA1, is a progressive neurodegenerative disease that Read More…
Ataxias can occur due to a multitude of reasons. One way a patient might acquire ataxia is from an accident or an injury – not as a result of genetics. On the other hand, a patient could also inherit a specific mutation (a genetic defect, in other words) from one Read More…
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