Everywoman\u27s Guide as an Organizing Tool on the Bowling Green Campus

I returned Bowling Green State University\u27s completed questionnaire for the Everywoman\u27s Guide to Colleges and Universities with a note of thanks to Florence Howe, The Feminist Press, and the Fund for the Improvement of Post-Secondary Education (FIPSE). I hope that the Guide will have a wide distribution and that it will help women students better to evaluate and select colleges. While the publication of this guidebook may have been the main goal of the project\u27s originators, I think the questionnaire itself has the potential of having an even greater direct impact on individual campuses. On my campus in Ohio, the project is providing an opportunity for us to focus attention university-wide on the status of women. For several years, groups of faculty, administrators, and staff have tried repeatedly to initiate an effective long-range project to improve the general educational climate for women on our campus; the Everywoman questionnaire may have provided the initiative for us to become effective change agents

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Linkage testing using Affymetrix 6.0 SNP Arrays mapped the disease locus in TCD-G, an Irish family with autosomal dominant retinitis pigmentosa (adRP), to an 8.8 Mb region on 1p31. Of 50 known genes in the region, 11 candidates, including RPE65 and PDE4B, were sequenced using di-deoxy capillary electrophoresis. Simultaneously, a subset of family members was analyzed using Agilent SureSelect All Exome capture, followed by sequencing on an Illumina GAIIx platform. Candidate gene and exome sequencing resulted in the identification of an Asp477Gly mutation in exon 13 of the RPE65 gene tracking with the disease in TCD-G. All coding exons of genes not sequenced to sufficient depth by next generation sequencing were sequenced by di-deoxy sequencing. No other potential disease-causing variants were found to segregate with disease in TCD-G. The Asp477Gly mutation was not present in Irish controls, but was found in a second Irish family provisionally diagnosed with choroideremia, bringing the combined maximum two-point LOD score to 5.3. Mutations in RPE65 are a known cause of recessive Leber congenital amaurosis (LCA) and recessive RP, but no dominant mutations have been reported. Protein modeling suggests that the Asp477Gly mutation may destabilize protein folding, and mutant RPE65 protein migrates marginally faster on SDS-PAGE, compared with wild type. Gene therapy for LCA patients with RPE65 mutations has shown great promise, raising the possibility of related therapies for dominant-acting mutations in this gene