Bill Nye is back in his lab with NAF and Biogen—breaking down the science of Friedreich Ataxia in a new video series. WATCH NOW
BDNF stands for Brain-derived neurotrophic factor. BDNF is a protein found in the brain that belongs to the group of neurotrophic proteins. Neurotrophic means that these proteins promote the survival and growth of new neurons during brain development and the survival and function of existing neurons in the adult brain. Read More…
CACNA1A is a gene that contains the genetic information needed to make a transcription factor and a part of a calcium channel. The gene is mainly expressed in the brain and is pivotal to various neuronal functions such as muscle contractions, memory, learning, and gene expression. Mutations in CACNA1A has Read More…
Written by Alexandra Putka Edited by Dr. Pragya Goel Feeling tired? You’re not alone. Fatigue is a common symptom of Spinocerebellar ataxias and affects quality of life. Spinocerebellar ataxias (SCAs) are characterized by various symptoms, but fatigue is not often included on this list. Fatigue is clinically defined as difficulty Read More…
Written by Alexandra Putka Edited by Dr Hannah K Shorrock Scientists characterize SCA1, 2, 3, & 6 disease progression, finding that symptoms change most rapidly in the first 10 years of the disease. Designing clinical trials for rare diseases such as spinocerebellar ataxias (SCAs) requires us to know the timeline Read More…
Written by Tala Ortiz Edited by Dr. Larissa Nitschke Repeat-associated non-AUG (RAN) translation in CAG repeat expansion diseases is toxic to cells and causes them to die. The Jain group found that RAN proteins and expanded RNA can be found in the same location in cells and interfere with essential Read More…
Escrito por la Dra. Hannah Shorrock Editado por la Dra. Larissa Nitschke. Publicado inicialmente en el 7 de mayo de 2021. Traducción al español fueron hechas por FEDAES y Carlos Barba. Pastor y sus colegas identifican pequeñas moléculas aprobadas por la FDA que reducen selectivamente la proteína tóxica expandida con poliglutamina Read More…
Riluzole, often sold under the trade name Rilutek, is a medication used for the treatment of amyotrophic lateral sclerosis (ALS). ALS is a fatal neurodegenerative disease that mainly affects neurons controlling muscle movements. The drug was approved by the FDA (1995), Health Canada (1997), and the European Commission (1996). It Read More…
Location: University of Minnesota, MN, USA Year Research Group Founded: 2008 What disease areas do you research? Ataxia (SCA1, SCA2, SCA3, SCA6, Friedreich Ataxia) Multiple System Atrophy – Cerebellar Ataxia Huntington’s Disease Amyotrophic Lateral Sclerosis Multiple Sclerosis Alzheimer’s disease Parkinson’s disease Traumatic Brain Injury Diabetes What models and techniques do you Read More…
Principal Investigator: Dr. Sheng-Han Kuo Location: Columbia University, New York, NY, United States Year Founded: 2012 What disease areas do you research? SCA1 SCA2 SCA3 SCA6 Tremor Essential Tremor What models and techniques do you use? Mouse models Post-mortem patient tissue Optogenetics Human physiology EEG (electroencephalogram) Neuromodulation Research Focus What is your Read More…
Written by Dr Hannah Shorrock Edited by Dr. Larissa Nitschke Pastor and colleagues identify FDA-approved small molecules that selectively reduce the toxic polyglutamine-expanded protein in SCA6. Selectively targeting disease-causing genes without disrupting cellular functions is essential for successful therapy development. In spinocerebellar ataxia type 6 (SCA6), achieving this selectivity is Read More…
