SCA6

Dr. Gomez is a clinical neurologist and researcher with a laboratory dedicated to SCA6 research. We feel encouraged by the amazing progress by the Gomez laboratory to understand the cause of SCA6 and to develop a therapy to stop the progression of symptoms. The immediate vision of the SCA6 Network is to provide help to translate his research into a clinical trial to stop the progression of SCA6 symptoms.

We are hopeful that an RNA-based strategy might provide hope for an effective clinical trial in the future to prevent progression of SCA6 symptoms.

The research strategy being pursued by Dr. Gomez's lab to inhibit formation of the a1ACT protein, the protein that causes SCA6, is described here: SCA6 Therapeutic Strategy. This was generously created by a member (PhD Molecular Scientist) of our SCA6 Network, along with a technical glossary.

• Study of α1ACT supports RNA therapy as good strategy against SCA6:
  α1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window

• RNA therapy decreases Huntingtin protein in patients with Huntington's Disease:
  Targeting Huntingtin Expression in Patients with Huntington’s Disease

• RNA therapy prevents SCA6 symptoms in mice:
  Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6.

• General discussion:
  New Research Gives Hope to Patients with Inherited Ataxias

• New England Journal of Medicine (limited access):
  Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

• This article is from a journal with restricted access:
  Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset

• Gomez SCA6 Research Lab
• About Dr. Gomez
• SCA6 Summary written by Dr. Gomez
• Ataxia Center at Univeristy of Chicago
• UChicago article on Gomez research

Links to Important Information