Summary: Exome sequencing has become a mainstay for gene discovery in Mendelian diseases and beyond. However, genetically highly heterogeneous phenotypes still present challenging targets. An example is Retinitis pigmentosa (RP), a degenerative eye disease where greater than 50 known genes explain only approximately half of the affected families. When a new gene is implicated in RP, it is usually a relatively rare cause of the disease. This situation typically requires additional studies including classic chromosomal mapping, large-scale sequencing of unrelated probands, in silico analysis of protein function and pathways, and also rapid in vivo modeling of candidate sequence variants. This webinar will draw upon our extensive experience in exome sequencing and will detail our recent identification of a novel Retinitis pigmentosa gene, DHDDS, in a single nuclear family.
