Dr. Ralph Garber, Canada, President of IASSW 1988 - 1996

A fully revealing portrait of Ralph Garber would require a latter-day Boswell. As ordained, however, an attempt must be made to create a recognizable word picture. And it must give initial attention to the range of influences and factors in Ralph Garber's inheritance and environment that, throughout his life, he experienced, absorbed and utilized in his remarkably creative career.

Dr. Ralph Garber (Canada), President 1988 - 1996

A fully revealing portrait of Ralph Garber would require a latter-day Boswell. As ordained, however, an attempt must be made to create a recognizable word picture. And it must give initial attention to the range of influences and factors in Ralph Garber's inheritance and environment that, throughout his life, he experienced, absorbed and utilized in his remarkably creative career.

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease

Congenital pseudomyotonia in Chianina cattle is a muscle function disorder very similar to that of Brody disease in humans. Mutations in the human ATP2A1 gene, encoding SERCA1, cause Brody myopathy. The analysis of the collected Chianina pedigree data suggested monogenic autosomal recessive inheritance and revealed that all 17 affected individuals traced back to a single founder. A deficiency of SERCA1 function in skeletal muscle of pseudomyotonia affected Chianina cattle was observed as SERCA1 activity in affected animals was decreased by about 70%. Linkage analysis showed that the mutation was located in the ATP2A1 gene region on BTA25 and subsequent mutation analysis of the ATP2A1 exons revealed a perfectly associated missense mutation in exon 6 (c.491G>A) leading to a p.Arg164His substitution. Arg164 represents a functionally important and strongly conserved residue of SERCA1. This study provides a suitable large animal model for human Brody disease.

From gene to protein: Investigating the disease etiology of retinitis pigmentosa

Retinitis pigmentosa (RP) is a name given to a group of inherited retinal dystrophies that lead to progressive photoreceptor degeneration, and thus, visual impairment. It is evident at both the clinical and the molecular level that these are heterogeneous disorders, with wide variation in severity, mode of inheritance, and phenotype. The genetics of RP are not simple; the disease can be inherited in dominant, recessive, X-linked, and digenic modes. Autosomal dominant RP (adRP) results from mutations in at least ten mapped loci, but there may be dozens of genetic loci where mutations can cause RP. To date, there are over a hundred genes known to cause retinal degenerative diseases, and less than half of these have been cloned (RetNet). Among the dozens of retinitis pigmentosa loci known to exist, only a few have been identified and the remainders are inferred from linkage studies. Today, the genes for seven of the twelve-adRP loci have been identified, and these are rhodopsin, peripherin/RDS, NRL, ROM1, CRX, RP13 and RP1. My research projects involved a combination of the continued search for genes involved in retinal dystrophies, as well the investigation into the role of peripherin/RDS and RP1 in the disease etiology of autosomal dominant RP. ^ Most of the mutations leading to inherited retinal disorders have been identified in predominately retina expressed genes like rhodopsin, peripherin/RDS, and RP1. Expressed sequence tags (ESTs) that were retina-specific were culled from sequence databases and, together with laboratory analysis, were analyzed as potential candidate genes for retinal dystrophies. Thirteen of the fifty-five identified retina-specific ESTs mapped to within candidate regions for inherited retinopathies. One of these is RP1L1, a homologue of RP1 and a potential cause of adRP. ^ Once a disease-associated gene has been identified, elucidating the role of that gene in the visual process is essential for understanding what happens when the process is defective as it is in adRP. My next projects involved investigating the role of a novel 5′ donor +3 splice site mutation on the mRNA of peripherin/RDS in adRP affected individuals, and comparative sequencing in RP1 to define conserved regions of the protein. Comparative sequencing is a powerful way to delineate critical regions of a sequence because different regions of a gene have different functions, and each region is subject to different levels of functional or structural constraints. Establishing a framework of conserved domains is beneficial not only for structural or functional studies, but can also aid in determining the potential effects of mutations. With the completion of sequencing of human genome, and other organisms such as Saccharomyces cerevisiae, Caenorhabditis elegans , and Drosophila, the facility of comparative sequencing will only increase in the future. Comparative sequencing has already become an established procedure for pinpointing conserved regions of a protein, and is an efficient way to target regions of a protein for experimental and/or evolutionary analysis. ^

La agriculturización en el contexto de una nueva ruralidad : Nuevos actores pluriactivos en el departamento Río Primero de la provincia de Córdoba

Desde las últimas décadas, Argentina ha evidenciado un fuerte proceso de agriculturización. El departamento Río Primero, de la provincia de Córdoba, participa de la dinámica visible en gran parte de la región pampeana, y el área de estudio presenta profundas transformaciones productivas, económicas y sociales. En este contexto, los más vulnerables del entramado quedan fuera del sistema productivo. Sin embargo, recientemente, y en forma aparentemente contradictoria, aparecen en escena pequeños productores de origen urbano que comienzan a completar sus ingresos urbanos con los provenientes de actividades agrarias.Abordamos en este trabajo el ingreso a la actividad agraria de nuevos actores pluriactivos de origen urbano, los motivos del mismo, sus modalida desde producción y estrategias de adaptación, sus trayectorias de vida y la conexión con lo rural en sus historias familiares, ponderando de qué manera incide la herencia y/o cesión de tierras en dicho ingreso.

La agriculturización en el contexto de una nueva ruralidad : Nuevos actores pluriactivos en el departamento Río Primero de la provincia de Córdoba

Desde las últimas décadas, Argentina ha evidenciado un fuerte proceso de agriculturización. El departamento Río Primero, de la provincia de Córdoba, participa de la dinámica visible en gran parte de la región pampeana, y el área de estudio presenta profundas transformaciones productivas, económicas y sociales. En este contexto, los más vulnerables del entramado quedan fuera del sistema productivo. Sin embargo, recientemente, y en forma aparentemente contradictoria, aparecen en escena pequeños productores de origen urbano que comienzan a completar sus ingresos urbanos con los provenientes de actividades agrarias.Abordamos en este trabajo el ingreso a la actividad agraria de nuevos actores pluriactivos de origen urbano, los motivos del mismo, sus modalida desde producción y estrategias de adaptación, sus trayectorias de vida y la conexión con lo rural en sus historias familiares, ponderando de qué manera incide la herencia y/o cesión de tierras en dicho ingreso.

La agriculturización en el contexto de una nueva ruralidad : Nuevos actores pluriactivos en el departamento Río Primero de la provincia de Córdoba

Desde las últimas décadas, Argentina ha evidenciado un fuerte proceso de agriculturización. El departamento Río Primero, de la provincia de Córdoba, participa de la dinámica visible en gran parte de la región pampeana, y el área de estudio presenta profundas transformaciones productivas, económicas y sociales. En este contexto, los más vulnerables del entramado quedan fuera del sistema productivo. Sin embargo, recientemente, y en forma aparentemente contradictoria, aparecen en escena pequeños productores de origen urbano que comienzan a completar sus ingresos urbanos con los provenientes de actividades agrarias.Abordamos en este trabajo el ingreso a la actividad agraria de nuevos actores pluriactivos de origen urbano, los motivos del mismo, sus modalida desde producción y estrategias de adaptación, sus trayectorias de vida y la conexión con lo rural en sus historias familiares, ponderando de qué manera incide la herencia y/o cesión de tierras en dicho ingreso.