RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...
Researchers at Baylor College of Medicine have tested the feasibility of using human cell transdifferentiation with RNA sequencing to facilitate diagnoses of Mendelian disorders. The approach ...
News-Medical.Net on MSN
Non-coding RNA mutations unveiled as new cause of retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with ...
Study focused on ‘Goldilocks Gene’ CHD2 that causes autism and epilepsy Deletion of long non-coding RNA CHASERR produces too much CHD2 protein in the cell, leaving patients wheelchair-bound, nonverbal ...
News-Medical.Net on MSN
RNA gene mutations identified as cause of inherited blindness
Researchers from Radboud university medical center and University of Basel have discovered new genetic causes of inherited ...
The inactivation or deletion of the gene CHD2 and its product is associated with pediatric neurodevelopment disorders and pediatric epilepsy. But too much CHD2 can also cause problems—and the balance ...
Researchers identify a shared RNA-protein interaction that could lead to broad-spectrum antiviral treatments for ...
La Jolla Labs was founded to make modern RNA biology and advanced computational techniques directly useful to patients whose ...
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