Publications by authors named "Matthew Gallen"
Article Synopsis
- A targeted genomic sequencing platform aims to reduce financial and ethical issues found in rapid whole-genomic sequencing for diseases in infants.
- The GEMINI study is looking into this through a prospective trial with 400 infants suspected of genetic disorders, and results from the first 113 patients enrolled are shared.
- The study found that 45% of patients had either diagnostic or uncertain genetic variants, with a 73% concordance in results between the two genomic platforms used.
Background: Frontotemporal lobar degeneration (FTLD) is a leading cause of dementia, and elucidating its genetic underpinnings is critical. FTLD research centers typically recruit patient cohorts that are limited by the center's specialty and the ways in which its geographic location affects the ethnic makeup of research participants. Novel sources of data are needed to get population estimates of the contribution of variants in known FTLD-associated genes.
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