RESUMEN
Chronic kidney disease (CKD) affects more than 35 million people in the United States, many of whom are undiagnosed. Included in this number are individuals with many types of rare kidney diseases, affecting 20,000 to 200,000 individuals nationwide. There is a major need to educate these individuals on the disease and its progression, especially since many individuals are not aware they have the disease. Descriptive correlational research was conducted in a nationwide sample of adult individuals living with rare glomerular kidney disease. Patient activation and quality of life were the concepts studied across the five CKD stages. New findings included statistically significant differences between participants' self-reported mental health quality of life and CKD Stage 1, with CKD Stages 4 and 5 in the rare kidney disease population. Nurses are essential for educating and supporting patients with rare kidney disease to preserve kidney function and slow disease progression.
Asunto(s)
Calidad de Vida , Insuficiencia Renal Crónica , Adulto , Humanos , Estados Unidos , Progresión de la Enfermedad , Insuficiencia Renal Crónica/diagnóstico , Participación del Paciente , Riñón , Tasa de Filtración GlomerularRESUMEN
Population-scale genome modification can alter the composition or fate of wild populations. Synthetic gene drives provide one set of tools, but their use is complicated by scientific, regulatory, and social issues associated with transgene persistence and flow. Here we propose an alternative approach. An Allele Sail consists of a genome editor (the Wind) that introduces DNA sequence edits, and is inherited in a Mendelian fashion. Meanwhile, the edits (the Sail) experience an arithmetic, Super-Mendelian increase in frequency. We model this system and identify contexts in which a single, low frequency release of an editor brings edits to a very high frequency. We also identify conditions in which manipulation of sex determination can bring about population suppression. In regulatory frameworks that distinguish between transgenics (GMO) and their edited non-transgenic progeny (non-GMO) Allele Sails may prove useful since the spread and persistence of the GM component can be limited.
Asunto(s)
Alelos , Animales , ADN/genética , Modelos Genéticos , Secuencia de Bases , Genética de Población , Transgenes , Masculino , Femenino , Genes SintéticosRESUMEN
Gene drive elements promote the spread of linked traits and can be used to change the composition or fate of wild populations. Cleave and Rescue (ClvR) drive elements sit at a fixed chromosomal position and include a DNA sequence-modifying enzyme such as Cas9/gRNAs that disrupts endogenous versions of an essential gene and a recoded version of the essential gene resistant to cleavage. ClvR spreads by creating conditions in which those lacking ClvR die because they lack functional versions of the essential gene. Here we demonstrate the essential features of the ClvR gene drive in the plant Arabidopsis thaliana through killing of gametes that fail to inherit a ClvR that targets the essential gene YKT61. Resistant alleles, which can slow or prevent drive, were not observed. Modelling shows plant ClvRs are robust to certain failure modes and can be used to rapidly drive population modification or suppression. Possible applications are discussed.