“Novel therapeutic approaches for the neurological and neuromuscular diseases caused by the expansion of repetitive elements in the human genome are being tested on a daily basis in many research laboratories and this activity will not stop until effective therapies for these diseases are available,” Lukasz Sznajder said.
Lukasz Sznajder, a postdoctoral associate at the University of Florida College of Medicine in Gainesville, Fla., was awarded an MDA development grant totaling $180,000 over three years to apply next-generation sequencing and other technologies to develop novel and disease-specific blood biomarkers for “repeat expansion diseases” (diseases that are caused by the abnormal expansion of particular stretches of DNA); These include ALS (amyotrophic lateral sclerosis) and frontotemporal dementia (FTD) caused by a mutation in C9ORF72 and type 2 myotonic dystrophy (DM2).
With colleagues, Sznajder is working to study a potentially novel mechanism whereby the expanded DNA sequences in DM2 and C9ORF72 ALS could alter the processing of RNA (the chemical step between DNA and protein production). The team plans to test whether these abnormalities could be detected not only in affected tissues such as the brain or muscle, but also in the blood — and whether they could be used as useful biomarkers.
If successful, Sznajder’s work could help point to new biomarkers for ALS and DM2 and open a new area for therapeutic intervention.
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