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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Written by Carrie A. Sheeler Edited by Dr. Ronald A.M. Buijsen RNAi reduces levels of disease-causing Ataxin-1 in SCA1 model mice, easing symptoms of disease when injected both before and after symptom onset. Lowering the amount of the disease-causing mutant Ataxin-1 protein in affected cells and tissues improves symptoms of Read More…
What is a recessive disorder? A recessive disorder is one that has a specific disease mechanism. For a recessive disorder to occur, both copies of the causative gene must be mutated for a patient to show symptoms. Ataxias that follow this disease mechanism are known as recessive ataxia. However, having Read More…
Written by Dr. Ambika Tewari Edited by Dr. Mónica Bañez-Coronel Mutations in the Huntingtin protein impair DNA repair causing significant DNA damage and altered gene expression Our genome houses the entirety of our genetic material which contains the instructions for making the proteins that are essential for all processes in Read More…
What is it? Magnetic resonance imaging (MRI) is a type of technology used to take detailed pictures of the body. It is commonly used to detect abnormalities in the body, diagnose diseases, and to regularly monitor patients who are undergoing treatments. It can generate three-dimensional images of non-bony tissues, such Read More…
Written by Dr. Judit M. Pérez Ortiz Edited by Dr. Brenda Toscano Márquez Scientists describe how SCA2 oxidative stress can affect mitochondrial function, and potentially how to fix it Mitochondrial Stress We all have experienced stress. When cramming for an exam last minute, or getting ready for a job interview, Read More…
RNA interference, or RNAi, is a natural biological process that inhibits the expression of a specific gene. In medicine, targeted RNAi therapies can be used to silence the expression of a disease-causing gene. To understand RNAi, you first have to understand RNA. An overview of RNA is the messager between Read More…
Written by Dr. Judit M. Perez Ortiz Edited by Dr. Sriram Jayabal In a new study, scientists have found that “zapping” the brain with an electromagnetic wand may someday help patients with spinocerebellar ataxia. In an era of ever-evolving technological advances used for personal entertainment and space travel, medical scientists Read More…
In many diseases caused by repeat expansion mutations in the DNA, harmful proteins containing repetitive stretches are found to build up in the brain. The repeat expansion mutation, when translated into a protein, results in an abnormally expanded repeat tract that can affect the function of the protein and have Read More…
Written by Jorge Diogo Da Silva Edited by Dr. David Bushart Normalizing neuronal dysfunction in SCA3/MJD by activating a receptor inside cells Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an inherited neurodegenerative disease that typically begins in mid-adulthood. This disease causes loss of coordination and Read More…
A common nuisance for bacteria is the bacteriophage: a virus that uses the internal machinery of a bacteria to replicate its own genetic material. Bacteriophages do this by latching onto bacteria and injecting their DNA into the cell. As the cell grows and divides, the bacteriophage’s hope is that their Read More…
