SAN DIEGO, Calif., October 26, 2017 -- Researchers here report that a single infusion of wildtype hematopoietic stem and progenitor cells (HSPCs) into a mouse model of Friedreich's ataxia
(FA) measurably halted cellular damage caused by the degenerative disease.
A case of Friedreich's ataxia
having no abnormal gene.
(FA) is a rare inherited disease that causes damage to the nervous system as well as diminished mobility.
One method of quantifying the progression of FA has been done in a clinical setting through the use of the Friedreich's Ataxia
Rating Scale (FARS), which has five separate subscales based on a clinical-examination.
may be a rare disorder, but it is an all too common feature of everyday life for patients and their families, said Amber Salzman, Ph.D., a co-founder and the Chief Executive Officer of AAVLife.
game will also raise awareness of an illness called Friedreich's Ataxia
(FA), a rare but debilitating nerve disease.
While the signs of cerebellar dysfunction had started acutely, their continuation for more than 2 weeks prompted further investigation for an inherited cause of progressive chronic ataxia (our differential diagnosis included ataxia telangiectasia (no telangiectasia were present clinically and the immunoglobulin levels were normal), abetalipoproteinaemia, Friedreich's ataxia
and spinocerebellar ataxia.
Barry Rice, 34, is living with Friedreich's Ataxia
, a progressive neuromuscular disorder that erodes muscle control and coordination.
present interesting data on a drug screen performed using two different models of Friedreich's ataxia
, yeast and Drosophila.
(FRDA), an inherited, progressive neurodegenerative disease, is caused by a reduced expression of the mitochondrial iron-binding protein, frataxin.
Differential diagnoses included Friedreich's ataxia
, multiple sclerosis and diabetic, alcoholic, autoimmune or toxic peripheral neuropathy.
Voyager's wholly-owned and partnered pipeline focuses on severe neurological diseases for which effective new therapies are needed, including Parkinson's disease, Huntington's disease, a monogenic form of ALS called SOD1, Friedreich's ataxia
, Alzheimer's disease, and other neurodegenerative diseases related to defective or excess aggregation of tau and alpha-synuclein proteins in the brain.