Human Heredity Research Articles

Considerations of Autonomy in Guiding Decisions around the Feedback of Individual Genetic Research Results from Genomics Research: Expectations of and Preferences from Researchers in Botswana.

Background The Human Health and Heredity (H3Africa) Consortium continues to generate large amounts of genomic data leading to new insights into health and disease among African populations. This has however generated debate among stakeholders involved in developing, implementing, and applying ethical standards and policies for the return of individual genetic research results. The key questions are about when results must, should, may, or must not be returned and by whom. This study aimed to explore the views on the feedback of individual pertinent and incidental genetic research results of researchers, ethics committee members, and policymakers in Botswana. Methods In-depth interviews were conducted with 16 key stakeholders from academic, research institutions, and regulatory bodies in Botswana. An analysis of the coded data was done through an iterative process of analytic induction to document and interpret themes and patterns. Results Overall, the study indicated that researchers have at least a partial obligation to return individual genetic research results to research participants. Respondents placed emphasis on the ethical principle of autonomy. They felt that it was inappropriate for researchers to make decisions about the return of results on participants' behalf except in situations of avoiding participant self-harm or harm to society. Conclusion Findings helped to highlight the importance of considering participants' autonomy in the development of sustainable and credible guidelines for feedback of findings from genomics research in Botswana, which can be explained during community engagement and consent processes. Such guidelines would ultimately be used to develop policies, guide African genomics research, and promote participant autonomy, transparency, and possibly participant trust in research.

Photographic Enlargements and Ethical Looking: Fingerprints from Hooghly

Photographic Enlargements and Ethical Looking:Fingerprints from Hooghly Mira Rai Waits (bio) The "hooghly Fingerprint Copies" are photographic enlargements of the fingerprints of Indian subjects developed on bromide paper, a popular commercial photography paper invented in the 1880s.1 Made by Francis Galton (the so-called father of eugenics2) from fingerprint specimens sent to him by William Herschel (a British colonial administrator stationed in India), they are a noteworthy feature of the digital collections of University College London. In his anthropometric laboratory at the South Kensington Museum in London, Galton enlarged fingerprints of the same people, prints taken first in 1878 and then again in 1892. During development, he placed the two prints side by side to show how fingerprints did not change over time. To access digital copies of these prints today, one need only click on [End Page 36] the PDF icon on the UCL "Hooghly Fingerprint Copies" reference web page and a document with pages of black and white photographic enlargements is generated. While the sheer volume of prints in the PDF can be visually overwhelming, the digitization of these prints also masks the colonial history of the prints' production by transforming bodies into easily accessible files. These enlarged prints appear more beautiful to me the longer I stare at them. Galton also admired the beauty captured by bodily prints, although his reasons for admiration had little to do with their aesthetic value and more to do with what they could potentially prove about human heredity. In his 1888 lecture at the Royal Institution of Great Britain, he noted that "Perhaps the most beautiful and characteristic of all superficial marks are the small furrows with the intervening ridges and their pores that are disposed in a singularly complex yet even order on the under surfaces of the hands and the feet" ("Personal Identification" 187). Galton's interest in the "complex yet even order" of fingerprints was spurred by his hypothesis that there were observable hereditary commonalities within the human population. He took a special interest in research subjects that would enable him to prove the existence of criminal and racial "types," speculating that the discovery of commonalities would ultimately contribute to the human population's improvement. To facilitate the visualization of the "type," Galton experimented with a variety of mediums. Prior to fingerprinting, he developed composite photography, a practice wherein exposures of different people were combined on a single photographic plate. He also drew contour lines based on facial profiles and explored Bertillonage, a classification system developed by French police officer Alphonse Bertillon in 1882 (Gillham ch. 17).3 While Galton ultimately failed to put fingerprinting to use as a tool for "improving" the human population, he was able to demonstrate that fingerprints were unique markers of identity that did not substantially change over time. He also developed a classificatory system that continues to form the basis for biometric classification within criminal justice systems around the world (Cole 99–100). To develop his fingerprinting system, Galton returned to photography, praising the medium for its accuracy and the ease of enlarging prints, which he argued facilitated the deciphering of fingerprint patterns (Galton, Finger Prints 111). When I look at the prints, I too am moved to praise by the patterns one can observe in the abstract loops and whorls, which, through photographic enlargement, look less like parts of the human body and more like the aerial photographs of Robert Smithson's earthwork Spiral Jetty (1970). Such visual ambiguity is demonstrative of photography's power to distort the scale of its subjects, but it also underlies a disturbing feature of biometrics that has conditioned our engagement with its imagery since the science was first cultivated. In translating the body into an abstraction, the enlarged photograph prompts us to lose sight of the people whose bodily traces are recorded on the photograph's surface. [End Page 37] I have spent several years pondering if it is possible to acknowledge the people fingerprinted in India who were the subjects of Galton's research and whether we can adequately address the historical circumstances that engendered the fingerprints' making. The notes on the reverse side of Galton's photographic enlargements are...

People in Motion: Introduction to Transnational Movements and Transwar Connections in the Anthropological and Genetic Study of Human Populations

People in Motion: Introduction to Transnational Movements and Transwar Connections in the Anthropological and Genetic Study of Human Populations

Commentary: Nationalism and Transnationalism in Anthropological Research

Commentary: Nationalism and Transnationalism in Anthropological Research

Comparative globalizations: building and dismantling genetic laboratories in Lebanon.

This paper examines two moments in the globalization of human genetics, focusing on the American University of Beirut as a site of interaction between American, European and Middle Eastern scientific actors and research subjects. In the interwar period, the establishment of clinical laboratories at AUB's medical school enabled the development of an informal large-scale programme to study human heredity through anthropometry and sero-anthropology. AUB's Middle Eastern students were trained in these techniques, and research results were disseminated locally in Arabic as well as in international scientific journals. In the post-war period, new technologies transformed human genetics into an internationally coordinated science with specialized laboratories. However, an attempt to establish such a lab at AUB during the 1960s ended in failure: the Anthropological Blood Grouping Laboratory functioned for only four years before closing. The American and British personalities who promoted the ABGL in Lebanon aimed to collect blood samples from across the region without committing to long-term relationships with local scientists and research subjects. As an 'outpost' for Western scientists, the ABGL embodied the neo-colonial structure of post-war human population genetics, both in its unfulfilled aspirations to serve metropolitan research agendas and in its marginalization of Middle Eastern scientists.

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...

Four Tier Diagnostic Tes Instrument To Identify Misconceptions For Grade Ix Junior High School Students In Jember Regency

Misconception is an event where there is a fallacy of the concept received by students after following a learning process, this accepted concept is not in accordance with existing scientific studies. One of the most common materials is material related to human heredity material class IX junior high school. The development of a Four-Tier Diagnostic Test instrument is one of the efforts in identifying the misconception of the material. This study aims to find out the validity level of the Four-Tier Diagnostic Test instrument as a good measuring tool in identifying the misconception of class IX junior high school human heredity material located in Jember Regency. This study involved 29 learners from Muhammadiyah Junior High School 4 Tanggul for instrument validity test. This type of research is descriptively quantitative using purposive sampling methods. Based on the analysis of expert validity tests obtained validity rate of 84.16% (very valid), instrument validity test value of 92.30% valid questions and 7.69% of invalid questions, reliability test value obtained 12 questions have reliability value of 0.785, difficulty tests obtained results of 75% of moderate problems, 8.30% of easy problems, and 16.60% of difficult problems, and different power tests obtained results of 33.33% of sufficient questions, 41.66% about good, 16.66% about good, and 8.33% bad.

Re-Envisioning the History of Cellular and Molecular Biology

Re-Envisioning the History of Cellular and Molecular Biology

Symbolic legislation and the regulation of stroke biobanking and genomics research in Sub-Saharan Africa

ABSTRACT Stroke is a major cause of death in Sub-Saharan Africa (SSA) and genetic factors appear to play a part. This led to the development of stroke bio-banking and genomics research in SSA. Existing stroke studies have focused on causes, incidence rates, fatalities and effects. However, scant attention has been paid to the legal issues about stroke bio-banking and genomics research in the sub-region. Therefore, this article examines how genomics research and stroke bio-banking in SSA can be regulated through legislation. The article reports that there are germane issues to be addressed such as appropriate consent model, commercial use of biological samples, ownership right in biological samples and return of research results but that the position of the law on these issues is not satisfactory because there is no statute directly regulating them while existing regulations in these countries are either absent, outdated, conservative or difficult to navigate. The article, therefore, applies the theory of symbolic legislation and argues for legislative intervention through a positive symbolic approach. It recommends that the statute to be enacted should only address policy issues by way of legal rules without being detailed while the understanding of the rules should be fostered in explanatory notes. The explanatory notes should contain examples borne of decided cases, cases settled out of court and the ethical guidelines prepared by Human Heredity and Health in Africa (H3 Africa). Where they are inadequate, recourse may be had to other ethical guidelines subject to the demands of local circumstances.

HIV Viremia Is Associated With APOL1 Variants and Reduced JC-Viruria.

Variants in the Apolipoprotein L1 (APOL1) gene (G1-rs60910145, rs73885319, G2-rs71785313) are common in Africans and in individuals of recent African ancestry and are associated with an increased risk of non-diabetic chronic kidney disease (CKD) and in particular of HIV associated nephropathy (HIVAN). In light of the significantly increased risk of HIVAN in carriers of two APOL1 risk alleles, a role in HIV infectivity has been postulated in the mechanism of APOL1 associated kidney disease. Herein, we aim to explore the association between HIV viremia and APOL1 genotype. In addition, we investigated interaction between BK and JC viruria, CKD and HIV viremia. A total of 199 persons living with HIV/AIDS (comprising 82 CKD cases and 117 controls) from among the participants in the ongoing Human Heredity and Health in Africa (H3Africa) Kidney Disease Research Network case control study have been recruited. The two APOL1 renal risk alleles (RRA) genotypes were associated with a higher risk of CKD (OR 12.6, 95% CI 3.89–40.8, p < 0.0001). Even a single APOL1 RRA was associated with CKD risk (OR 4.42, 95% CI 1.49–13.15, p = 0.007). The 2 APOL1 RRA genotypes were associated with an increased probability of having HIV viremia (OR 2.37 95% CI 1.0–5.63, p = 0.05). HIV viremia was associated with increased CKD risk (OR 7.45, 95% CI 1.66–33.35, P = 0.009) and with a significant reduction of JC virus urine shedding (OR 0.35, 95% CI 0.12–0.98, p = 0.046). In contrast to prior studies, JC viruria was not associated with CKD but was restricted in patients with HIV viremia, regardless of CKD status. These findings suggest a role of APOL1 variants in HIV infectivity and emphasize that JC viruria can serve as biomarker for innate immune system activation.

The Vienna Protocol: Recommendations/Guidelines for the Handling of Future Discoveries of Remains of Human Victims of Nazi Terror "Vienna Protocol" for when Jewish or Possibly-Jewish Human Remains are Discovered.

(Reprinted with permission from Special Symposium Hosted by Yad Vashem: May 14, 2017).

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

BackgroundThis 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.

Complex species and strain ecology of the vaginal microbiome from pregnancy to postpartum and association with preterm birth

Lactobacillus was described as a keystone bacterial taxon in the human vagina over 100 years ago. Using metagenomics, we and others have characterized lactobacilli and other vaginal taxa across health and disease states, including pregnancy. While shifts in community membership have been resolved at the genus/species level, strain dynamics remain poorly characterized. We performed a metagenomic analysis of the complex ecology of the vaginal econiche during and after pregnancy in a large U.S. based longitudinal cohort of women who were initially sampled in the third trimester of pregnancy, then validated key findings in a second cohort of women initially sampled in the second trimester of pregnancy. First, we resolved microbial species and strains, interrogated their co-occurrence patterns, and probed the relationship between keystone species and preterm birth outcomes. Second, to determine the role of human heredity in shaping vaginal microbial ecology in relation to preterm birth, we performed a mtDNA-bacterial species association analysis. Finally, we explored the clinical utility of metagenomics in detection and co-occurrence patterns for the pathobiont Group B Streptococcus (causative bacterium of invasive neonatal sepsis). Our highly refined resolutions of the vaginal ecology during and post-pregnancy provide insights into not only structural and functional community dynamics, but highlight the capacity of metagenomics to reveal finer aspects of the vaginal microbial ecologic framework. NIH-NINR R01NR014792, NIH-NICHD R01HD091731, NIH National Children's Study Formative Research, Burroughs Wellcome Fund Preterm Birth Initiative, March of Dimes Preterm Birth Research Initiative, NIH-NIGMS (K12GM084897, T32GM007330, T32GM088129).

Genomics and bioinformatics capacity in Africa: no continent is left behind.

Despite the poor genomics research capacity in Africa, efforts have been made to empower African scientists to get involved in genomics research, particularly that involving African populations. As part of the Human Heredity and Health in Africa (H3Africa) Consortium, an initiative was set to make genomics research in Africa an African endeavor and was developed through funding from the United States' National Institutes of Health Common Fund and the Wellcome Trust. H3Africa is intended to encourage a contemporary research approach by African investigators and to stimulate the study of genomic and environmental determinants of common diseases. The goal of these endeavors is to improve the health of African populations. To build capacity for bioinformatics and genomics research, organizations such as the African Society for Bioinformatics and Computational Biology have been established. In this article, we discuss the current status of the bioinformatics infrastructure in Africa as well as the training challenges and opportunities.

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

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RADIATION DOSE RATE MEASUREMENT FOR PROTECTION PROGRAMS IN THE WORK ENVIRONMENT FOR THE HEALTH WORKERS: AN EXPERIMENTAL STUDY

Radiation is the energy emitted from electrons in particles or photons (waves) and is classified into nonionized and ionized. Ionizing radiation demonstrates the ability to disintegrate matter along its path and has proven beneficial in medicine. Exposure to this energy tends to instigate adverse effects on human health and heredity (genetics). However, the radiation is not directly measured but requires a nuclear detector to serve as a monitoring device. Radiation workers’ awareness of ionizing radiation levels in the work environment is one of the most important factors in preventing the negative effects of radioactivity. This is possibly identified using various types of detectors. This experiment aimed to provide an overview of radiation dose rate measurement under two conditions. First is the event of contamination in the work environment. The second involves using a detector to solely determine the dose rate from a single source, e.g., gamma radiation. Therefore, the radiation dose rate was evaluated by maximizing the use of detectors with a GUI as a survey meter for contamination. The highest rate (261.42 μSv / h) was observed at a distance of 5 mm, while the least (69.21 μSv / h) was recorded at 50 mm. Also, a dose rate of 5.4 μSv / h and 1.32 μSv / h was obtained at a 5 mm and 50 mm distance from the radiation source, respectively, following the operation as a gamma survey meter. This result shows strong linearity between both measurements and is estimated to accurately determine the contamination level of radioactive elements, alongside the doses rate of the gamma radiation emitting elements.

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.”

Early-life respiratory syncytial virus lower respiratory tract infection in a South African birth cohort: epidemiology and effect on lung health

SummaryBackgroundRespiratory syncytial virus (RSV) is a major cause of lower respiratory tract infection (LRTI) in children. Early-life RSV LRTI might affect long-term health but there are few data from low-income and middle-income countries. We investigated the epidemiology and effect of early-life RSV LRTI on lung health in a South African birth cohort.MethodsWe conducted the Drakenstein Child Health Study (DCHS), an ongoing birth cohort longitudinal study in the Western Cape province, South Africa. We enrolled pregnant women aged 18 years or older during their second trimester of pregnancy at two public health clinics. We followed up study children from birth to 2 years. The primary outcome of the study was LRTI and RSV LRTI. LRTI and wheezing episodes were identified through active surveillance; respiratory samples were tested for RSV and other pathogens. Wheezing was longitudinally identified by caregiver report and ascertainment at health facilities. Lung function was measured from 6 weeks to 2 years. We analysed the associations between RSV LRTI and subsequent LRTI, wheezing, and lung function using generalised estimating equations and mixed-effects linear regression.FindingsWe enrolled 1137 mothers between March 5, 2012, and March 31, 2015. Among their 1143 infants, accruing 2093 child-years of follow-up, there were 851 cases of LRTI (incidence 0·41 episodes per child-year, 95% CI 0·38–0·43). Admission to hospital owing to LRTI occurred in 169 (20%) cases (incidence 0·08 episodes per child-year, 0·07–0·09), with a case-fatality ratio of 0·5%. RSV was detected in 164 (21%) of 785 LRTI events with a specimen available for qPCR, an incidence of 0·08 episodes per child-year (0·07–0·09); highest at age 0–6 months (0·15 episodes per child-year, 0·12–0·19). Children with a first RSV LRTI were three times as likely to develop recurrent LRTI compared with those with non-RSV LRTI (0·32 [0·22–0·48] vs 0·10 [0·07– 0·16] episodes per child-year; p<0·0001), particularly following hospitalised RSV LRTI. RSV LRTI and hospitalisation for all-cause LRTI were independently associated with recurrent wheezing (adjusted incident rate ratio 1·41, 95% CI 1·25–1·59, for RSV LRTI and 1·48, 1·30–1·68, for hospitalisation). LRTI or recurrent LRTI was associated with impaired lung function, but a similar outcome was observed following RSV LRTI or non-RSV LRTI. All-cause LRTI was associated with an average 3% higher respiratory rate (95% CI 0·01–0·06; p=0·013) and lower compliance (–0·1, −0·18 to 0·02) at 2 years compared with no LRTI. Recurrent LRTI was associated with further increased respiratory rate (0·01, 0·001–0·02), resistance (0·77 hPa s L−1, 0·07–1·47), and lower compliance (–0·6 mL hPa−1, −0·09 to −0·02) with each additional event.InterpretationRSV LRTI was common in young infants and associated with recurrent LRTI, particularly after hospitalised RSV. Hospitalisation for all-cause LRTI, especially for RSV-LRTI, was associated with recurrent wheezing. Impairments in lung function followed LRTI or recurrent episodes, but were not specific to RSV. New preventive strategies for RSV might have an effect on long-term lung health.FundingBill & Melinda Gates Foundation; South African Medical Research Council; National Research Foundation South Africa; National Institutes of Health, Human Heredity and Health in Africa; Wellcome Trust.

The SickleGenAfrica Network

In 2012, the US National Institutes of Health and the UK-based Wellcome Trust funded a US$76 million initiative called Human Heredity and Health in Africa (H3Africa), in partnership with the African Society of Human Genetics. Grants were awarded directly to African institutions to support their faculties in directing their own research, fostering collaborations, and building infrastructure in bioinformatics and genomics.1 H3Africa was founded on the belief that researchers and research participants in Africa are best positioned to work together to study diseases that exact a heavy burden on the continent.

Josef Mengele's research program on noma in Auschwitz

Noma research protocol was conducted in the Auschwitz Birkernau camp by the infamous (Schutzstaffel) SS doctor Josef Mengele who was known as “the Angel of Death” in close collaboration with researchers at the Kaiser-Wilhelm Institute in Berlin Crimes. Mengele who held the post of camp doctor in the “Gypsy camp” saw an opportunity to set up a research program on gypsy children called “Nomaprojekt”. The purpose of this program was to study the causes of noma and to find treatment methods. The experimental treatment protocol consisted of administering a combination of sulfanilamido-ethyl thiodiazole and nicotinic acid. Heads and selected body parts of children suffering from noma were prepared in formaldehyde jars and sent to researchers at the prestigious Kaiser-Wilhelm Institute for Anthropology, Human Heredity and Eugenics in Berlin-Dahlem, but also to the SS Medical Academy in Graz to carry out further examinations. The experimental protocol for the treatment of noma among Gypsy children is one of the most horrific crimes that Dr. Josef Mengele committed in the Auschwitz camp.