ataxia
Repeat Expansion Prevalence in Populations Higher Than Assumed, Study Finds
Researchers used genome sequence data for nearly 82,000 individuals to explore RED-related allele frequencies and features across populations.
Long-Read Sequencing Study Finds Genetic Culprit for Rare Neurological Condition
By analyzing members of a large extended family in Utah, researchers linked a ZFHX3 gene repeat expansion to a severe condition called spinocerebellar ataxia 4.
Genome Sequencing Study Reveals Targets for Splice-Switching Antisense Oligonucleotide Therapy
Researchers identified disease-causing variants in ataxia telangiectasia patients that could be targeted by splice-switching antisense oligonucleotide therapy.
Late-Onset Ataxia Linked to New Repeat Expansion in FGF14 Gene
The repeat expansion appears to coincide with late-onset cerebellar ataxia risk, particularly in patients from a French-Canadian population.
The firm reported selling more billable tests in Q1 than any previous quarter and said that it is starting to see momentum in new initiatives, such as carrier screening.