scholarly journals More than sample providers: how genetic researchers in Pakistan mobilized a prenatal diagnostic service for thalassemia

BioSocieties ◽  
2021 ◽  
Author(s):  
Zainab Afshan Sheikh ◽  
Ayo Wahlberg

AbstractWhile unequally resourced partners from the so-called global South are often considered ‘mere sample providers’ in larger international genomics collaborations, in this paper, we show how they strategically work to mobilize their role in a global system of tissue exchange to deliver services for local communities. We unpack how a prenatal diagnostic service for thalassemia in Pakistan emerged out of the maneuvering efforts of internationally connected Pakistani researchers. By tracing the distributed capacities that emerged and circulated as they set about improving medical genetics in Pakistan, we outline some key conditions that led to the establishment of the service: first, the scale of unmet needs that geneticists faced when collecting data as part of their research that made medical genomics a relevant field; secondly, joint efforts between researchers and physicians that were engaged with the challenge of decreasing disease prevalence through diagnostics and abortion; and finally, the ways in which international research collaborations helped generate resources to improve medical genetics in Pakistan. To understand how genetic research and medicine is currently being developed in Pakistan, we need to ethnographically re-center our analyses in ways that allow us to identify the resourceful ways in which researchers maneuvre to secure locally relevant outcomes.

2003 ◽  
Vol 78 (7) ◽  
pp. 846-857 ◽  
Author(s):  
Regina E. Ensenauer ◽  
Shanda S. Reinke ◽  
Michael J. Ackerman ◽  
David J. Tester ◽  
David A.H. Whiteman ◽  
...  

Genome ◽  
1989 ◽  
Vol 31 (2) ◽  
pp. 879-884 ◽  
Author(s):  
Mark B. Adams

After the Bolshevik revolution of 1917, Iurii Filipchenko (in Petrograd) and Nikolai Koltsov (in Moscow) created centers of genetic research where eugenics prospered as a socially relevant part of the new "experimental" biology. The Russian Eugenics Society, established in 1920, was dominated by research-oriented professionals. However, Bolshevik activists in the movement tried to translate eugenics into social policies (among them, sterilization) and in 1929, Marxist geneticist Alexander Serebrovsky was stimulated by the forthcoming Five-Year Plan to urge a massive eugenic program of human artificial insemination. With the advent of Stalinism, such attempts to "biologize" social phenomena became ideologically untenable and the society was abolished in 1930. Three years later, however, a number of eugenicists reassembled in the world's first institute of medical genetics, created by Bolshevik physician Solomon Levit after his return from a postdoctoral year in Texas with H. J. Muller. Muller himself moved to the Soviet Union in 1933, where he agitated for eugenics and wrote Stalin in 1936 to urge an artificial insemination program. Shortly thereafter, Muller left Russia, several of his colleagues were shot, and the Institute of Medical Genetics was disbanded. During the next three decades, Lysenkoists regularly invoked the Soviet eugenic legacy to claim that genetics itself was fascist.Key words: Russia, eugenics, human genetics, medical genetics, Lysenkoism, history, politics.


Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2239
Author(s):  
Giulia Sabbatinelli ◽  
Donatella Fantasia ◽  
Chiara Palka ◽  
Elisena Morizio ◽  
Melissa Alfonsi ◽  
...  

Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy.


2020 ◽  
Vol 21 (17) ◽  
pp. 6224
Author(s):  
Yuriy L. Orlov ◽  
Ancha V. Baranova ◽  
Tatiana V. Tatarinova

Medical genomics relies on next-gen sequencing methods to decipher underlying molecular mechanisms of gene expression. This special issue collects materials originally presented at the “Centenary of Human Population Genetics” Conference-2019, in Moscow. Here we present some recent developments in computational methods tested on actual medical genetics problems dissected through genomics, transcriptomics and proteomics data analysis, gene networks, protein–protein interactions and biomedical literature mining. We have selected materials based on systems biology approaches, database mining. These methods and algorithms were discussed at the Digital Medical Forum-2019, organized by I.M. Sechenov First Moscow State Medical University presenting bioinformatics approaches for the drug targets discovery in cancer, its computational support, and digitalization of medical research, as well as at “Systems Biology and Bioinformatics”-2019 (SBB-2019) Young Scientists School in Novosibirsk, Russia. Selected recent advancements discussed at these events in the medical genomics and genetics areas are based on novel bioinformatics tools.


1995 ◽  
Vol 38 (5) ◽  
pp. 1126-1142 ◽  
Author(s):  
Jeffrey W. Gilger

This paper is an introduction to behavioral genetics for researchers and practioners in language development and disorders. The specific aims are to illustrate some essential concepts and to show how behavioral genetic research can be applied to the language sciences. Past genetic research on language-related traits has tended to focus on simple etiology (i.e., the heritability or familiality of language skills). The current state of the art, however, suggests that great promise lies in addressing more complex questions through behavioral genetic paradigms. In terms of future goals it is suggested that: (a) more behavioral genetic work of all types should be done—including replications and expansions of preliminary studies already in print; (b) work should focus on fine-grained, theory-based phenotypes with research designs that can address complex questions in language development; and (c) work in this area should utilize a variety of samples and methods (e.g., twin and family samples, heritability and segregation analyses, linkage and association tests, etc.).


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