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For years scientists believed they knew where the causal gene for spinocerebellar ataxia (SCA4) could be found, but the identity...

Somatic testing of solid tumors has become the standard of care. Specific mutations in genes such as BRAF, EGFR, NTRK...

In its most basic form, ataxia is a neurological symptom. It’s defined specifically as a lack of muscle control or...

Fragile X syndrome (FXS) is one of the most common heritable forms of intellectual disability, occurring in approximately 1 in...

It’s well known that FXN variants cause Friedreich’s ataxia – a progressive form of ataxia that usually affects individuals before 25 years...

In short, yes! But let’s take a step back and start with what mitochondrial disease is. We have to start...

We’ve previously looked at examples of the spectrum of genetic seizure disorders: ranging from syndromes where seizures are the only symptoms...

March is National Kidney Month, and Thursday March 12, 2020 is World Kidney Day. Both strive to raise awareness about kidney...

A couple of months ago we received an email from Danny Miller, founder of the MEPAN Foundation. He wrote with what,...

We’ve taken the approach of combining whole genome sequencing (WGS) with in-silico panel analysis for three key reasons: First, PCR-free...