Guideline for feedback of individual genetic research findings for genomics research in Africa

As human genomics research in Africa continues to generate large amounts of data, ethical issues arise regarding how actionable genetic information is shared with research participants. The Human Heredity and Health in Africa Consortium (H3Africa) Ethics and Community Engagement Working group acknowledged the need for such guidance, identified key issues and principles relevant to genomics research in Africa and developed a practical guideline for consideration of feeding back individual genetic results of health importance in African research projects. This included a decision flowchart, providing a logical framework to assist in decision-making and planning for human genomics research projects. Although presented in the context of the H3Africa Consortium, we believe the principles described, and the decision flowchart presented here is applicable more broadly in African genomics research.

The Vienna Protocol

The "Vienna Protocol" was authored by Rabbi Joseph Polak, the Chief Justice of the Rabbinical Court of Massachusetts, with input from Prof. Michael Grodin of the Elie Wiesel Center for Jewish Studies at Boston University. The "Vienna Protocol" initially arose from a question posed by Prof. Susan Mackinnon of Washington University and her associate Andrew Yee with respect to the use of paintings from the Pernkopf Atlas of Human Anatomy, many of which are believed to be based on the dissection of victims of Nazi terror in Vienna. Questions about the use of these images and of how one deals, in Jewish tradition, with human remains of Nazi victims, have not been addressed. The "Vienna Protocol" is a unique and unprecedented religious and ethical analysis in the tradition of a Rabbinical "Responsum." While it was undertaken from a Jewish religious and ethical perspective, it is, in fact, a universal document that can be considered as a model for people of other faiths and beliefs. Image credit for the 1930s photo showing Nazi flags flying on the Kaiser Wilhelm Institute of Anthropology, Human Heredity and Eugenics: Archives of the Max Planck Society, Berlin. Used with permission.

Eyes of Africa: The Genetics of Blindness: Study Design and Methodology

Background This report describes the design and methodology of the “Eyes of Africa: The Genetics of Blindness,” a collaborative study funded through the Human Heredity and Health in Africa (H3Africa) program of the National Institute of Health. Methods This is a case control study that is collecting a large well phenotyped data set among glaucoma patients and controls for a genome wide association study. (GWAS). Multiplex families segregating Mendelian forms of early-onset glaucoma will also be collected for exome sequencing. Discussion A total of 4500 cases/controls have been recruited into the study at the end of the 3rd funded year of the study. All these participants have been appropriately phenotyped and blood samples have been received from these participants. Recent GWAS of POAG in African individuals demonstrated genome-wide significant association with the APBB2 locus which is an association that is unique to individuals of African ancestry. This study will add to the existing knowledge and understanding of POAG in the African population.

Overview of The Human Heredity and Health in Africa Kidney Disease Research Network (H3A-KDRN)

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Madness in Numbers

In Genetics in the Madhouse, Theodore Porter retraces the study of human heredity to its origins in the lunatic asylums of the 18th and 19th centuries. Preceding the discovery of DNA by more than a century, the field emerged far from the laboratory, “amid the moans, stench, and unruly despair of mostly hidden places, where data were recorded, combined, and grouped into tables and graphs.”

Russian women at the beginning of human genetics

This paper reviews the studies on human genetics, carried out by Russian women in the 1920s and 1930s. Its main objective is to determine the contribution of women scientists to the development of different fields of human genetics. Particular attention is given to reconstructing women geneticists’ research work, reviewing the content of their publications, and analysing the theoretical and methodological approaches they employed to tackle different scientific problems. The biographies of the pioneers in Russian “anthropogenetics” (knowledge of human heredity), R. I. Serebrovskaya, G. V. Soboleva, and N. N. Malkova, were restored on the basis of archival sources. The first women geneticists received their higher education at the Higher Women’s Courses, as, in the Russian Empire, it was prohibited for women to study at the universities. These women came into genetics from traditional biological sciences or medicine at the time when human genetics as a discipline began to emerge in Russia in the 1920s. The first works in the field of anthropogenetics, conducted by these women on their own, began to appear in 1923. By the mid ‒ 1920s, women geneticists began to use genealogical and twin methods for studying human heredity extensively. The number of women’s publications peaked in the late 1920s. Studies in the field of population genetics and medical genetics gained popularity and new biochemical and cytological methods of analysis were added to the repertoire of analytical techniques. In the 1930s, with the beginning of attacks on eugenics, studies in human genetics were rapidly wound down to be completely arrested by the 1940s. The results of the studies carried out by the Russian women anthropogeneticists in the 1920s ‒ 1930s included demonstrating hereditary nature of premature graying (R. I. Serebrovskaya), hemorrhagic diathesis and inguinal hernia (N. N. Malkova), deaf-mutism and stutter (G. V. Soboleva); determining the incidence of different genes in the populations; organizing large-scale twin studies to elucidate the role of heredity and environment in the manifestation of psychological traits; and introducing new methods for hereditary disease diagnostics and the effective practices for teaching preschool and school age children.

Sociological Analysis of the Resources of the Post-Penitentiary System in Russia and the Effectiveness of Resocialization of Persons Released from Places of Imprisonment

People released from prison are a specific social group that is declassified and interned in social relations in conditions of freedom with a certain set of personal qualities and properties acquired in a correctional institution, with a lot of problems (housing, material, psychological, social, family, etc.), and besides that being in the position of a "status-role moratorium". Article updates and analyses the resources of resocialization of convicted in Russia released from places of imprisonment, as the factors that determine the degree of efficiency of the process of adaptation of this category of citizens in freedom. The author believes that a comprehensive approach to the problem of resocialization of persons released from places of imprisonment, which would take into account the fact that criminal behavior is determined by a raw of factors, derived from qualities of determination by three sources: natural (human heredity, genotype), social (economic, cultural, political and other human condition) and personal (the free will of man, his own system of meanings, values and life coordinates). The analysis of the latter showed that ignoring the socio-psychological resources of society in the aggregate of the significance of the psychological characteristics of a person released from prison, and its microsocium as a medium of communication and adaptation becomes a factor in the reproduction of recidivism in Russia.

MENINGKATKAN MOTIVASI SISWA KELAS XII IPA 1 SMA NEGERI 1 SAKTI KABUPATEN PIDIE DALAM PELAJARAN BIOLOGI MENGGUNAKAN MODEL KOOPERATIF LEARNING DENGAN TEKNIK BERNYANYI

Research entitled "Improving Student Motivation of Class XII Science 1 of SMA Negeri 1 Sakti in Pidie Regency in Biology Lessons Using Cooperative Learning Models with Singing Techniques" The problem formulation is (1) How do students' motivation in using cooperative learning models with singing techniques on principles material human heredity in class XII of SMA Negeri 1 Sakti, (2) How are the activities of students and teachers in using cooperative learning models with singing techniques on the principles of human heredity in class XII of SMA Negeri 1 Sakti, (3) How do students respond to the use of cooperative learning models with singing techniques on the material principles of human heredity in class XII of SMA Negeri 1 Sakti. This research is a classroom action research (CAR), with the subject of the research being students of class XII, collecting data using tests and observation sheets. Data were analyzed using percentage descriptive statistics. The results of data analysis can be concluded that: (1) There was an increase in the learning outcomes of class XII students of SMA Negeri 1 Sakti on the material principles of heredity by using cooperative learning models with singing techniques. This can be seen from the individual completeness of 66 percent in the first cycle to 83 percent in the second cycle. Classical completeness also increased from the first cycle by 50 percent, to 70 percent in the second cycle, (2) Teacher and student activities between the first cycle to the second cycle increased based on the time spent in the second cycle closer to the ideal time than in the first cycle , (3) There is an increase in student motivation on the material principles of human heredity through the use of cooperative learning models with singing techniques. This is seen from the response of students who say that there are benefits gained in learning through the use of cooperative learning models with singing techniques to the material that has been learned.