Bill Nye the Science Guy is speaking at the 2024 Annual Ataxia Conference! Register now. LEARN MORE!
Written by Alexandra Putka Edited by Dr. Larissa Nitschke Profound gene changes in non-neuronal cells are revealed by a recent study in SCA1. The two major cell types of the brain are neurons and glia, yet you have probably heard little about glia, which outnumber neurons. The word glia comes Read More…
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disease first described in 2001 that is caused by a mutation or change to a gene on the X chromosome. The X chromosome is the section of DNA that determines biological sex. Biological females typically have two X chromosomes (one from their Read More…
Drosophila melanogaster is the scientific name of the common fruit fly. Yes, the ones flying around your green bin on a hot summer day. You may be surprised to learn that it is a commonly used model organism in biomedical research and has made significant contributions to many fields of Read More…
Picture of the Lim lab taken in May 2022. Left to right: Chris Lee, Benjamin Sanders, Kimberly Luttik, Dr. Janghoo Lim, Dr. Neha Gogia, Luhan Ni, Ashley Owens, Victor Olmos Principal Investigator: Janghoo Lim, PhD Location: Yale University, New Haven, CT, USA Year Founded: 2010 What disease areas do you Read More…
Written by Alexandra Putka Edited by Dr. Hannah K Shorrock Improving neuron firing regularity rescued incoordination but not muscle weakness in a SCA1 mouse model. Spinocerebellar ataxias are characterized by problems within the cerebellum, the part of your brain responsible for balance, coordination, and walking. A central question within preclinical Read More…
Induced pluripotent stem cells or iPSCs are adult stem cells that can be transformed into different types of tissues or organs. This research can be used to study different disease mechanisms. Many multicellular organisms like us come from a fertilized egg cell, the zygote, which divides into more and more Read More…
The nervous system is made up of two main components: the central nervous system, which consists of the brain and the spinal cord, and the peripheral nervous system, which consists of nerve cells that branch off the spinal cord and connect the central nervous system to the rest of the Read More…
Written by Dr. Hayley McLoughlin and Dr. Sharan Srinivasan Edited by Dr. Celeste Suart A novel genetic sequencing technology uncovered numerous familial ataxia cases linked to a unique mutation in an old genetic ataxia culprit. Despite improved access to genetic testing, the ability to diagnose hereditary ataxias remains quite difficult. Read More…
In a nutshell: somatic expansions are expansions of repeat DNA sequences that accumulate in cells over an individual’s lifetime. A special kind of mutation: repeat expansion mutations Some genes naturally contain repeat sequences in the DNA. For the most part, these DNA repeats are relatively short and do not cause Read More…
Written by Dr. Ambika Tewari Edited by Dr. Larissa Nitschke The abnormal activity of cells in the deep cerebellar nuclei and Purkinje cells correlate with the early onset of motor symptoms in a mouse model of SCA3 The cerebellum has an established role in maintaining balance and posture and coordinating Read More…
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