Friedreichs-Ataxia-Information-Page

Friedreich's Ataxia Information Page


What research is being done?

NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin. One project is using advanced stem cells (capable of becoming other cell types) to turn off, or silence, the defective FXN gene. Researchers are working to develop animal models of the disease that closely mimic the gene mutation seen in Friedreich's ataxia. Another project is seeking to develop a protein replacement therapy for the disorder that uses a new technology to deliver functional frataxin protein to mitochondria.

Information from the National Library of Medicine’s MedlinePlus
Friedrich's Ataxia

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What research is being done?

NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin. One project is using advanced stem cells (capable of becoming other cell types) to turn off, or silence, the defective FXN gene. Researchers are working to develop animal models of the disease that closely mimic the gene mutation seen in Friedreich's ataxia. Another project is seeking to develop a protein replacement therapy for the disorder that uses a new technology to deliver functional frataxin protein to mitochondria.

Information from the National Library of Medicine’s MedlinePlus
Friedrich's Ataxia

NINDS-funded researchers are studying the metabolic functions of mitochondria in individuals with Friedreich’s ataxia. Ongoing research is aimed at understanding the molecular basis for and mechanisms involved in the inactivation of the gene that provides instructions for frataxin. One project is using advanced stem cells (capable of becoming other cell types) to turn off, or silence, the defective FXN gene. Researchers are working to develop animal models of the disease that closely mimic the gene mutation seen in Friedreich's ataxia. Another project is seeking to develop a protein replacement therapy for the disorder that uses a new technology to deliver functional frataxin protein to mitochondria.

Information from the National Library of Medicine’s MedlinePlus
Friedrich's Ataxia


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