scholarly journals The Swedish Twin Registry: Establishment of a Biobank and Other Recent Developments

2012 ◽  
Vol 16 (1) ◽  
pp. 317-329 ◽  
Author(s):  
Patrik K. E. Magnusson ◽  
Catarina Almqvist ◽  
Iffat Rahman ◽  
Andrea Ganna ◽  
Alexander Viktorin ◽  
...  

The Swedish Twin Registry (STR) today contains more than 194,000 twins and more than 75,000 pairs have zygosity determined by an intra-pair similarity algorithm, DNA, or by being of opposite sex. Of these, approximately 20,000, 25,000, and 30,000 pairs are monozygotic, same-sex dizygotic, and opposite-sex dizygotic pairs, respectively. Since its establishment in the late 1950s, the STR has been an important epidemiological resource for the study of genetic and environmental influences on a multitude of traits, behaviors, and diseases. Following large investments in the collection of biological specimens in the past 10 years we have now established a Swedish twin biobank with DNA from 45,000 twins and blood serum from 15,000 twins, which effectively has also transformed the registry into a powerful resource for molecular studies. We here describe the main projects within which the new collections of both biological samples as well as phenotypic measures have been collected. Coverage by year of birth, zygosity determination, ethnic heterogeneity, and influences of in vitro fertilization are also described.

2017 ◽  
Vol 35 (05) ◽  
pp. 415-419 ◽  
Author(s):  
Chloe Getrajdman ◽  
Joseph Lee ◽  
Alan Copperman

AbstractThe utilization of assisted reproductive technology (ART), particularly by same-sex female couples (SSFCs), has increased over the past few decades. Alongside the increase in use by lesbian women, there has also been an increase in the number of available treatment options. The process by which SSFCs make the various decisions associated with conceiving and parenting, however, has been largely overlooked. This review provides an overview of the reproductive treatments available to lesbian women and specifically highlights the “biological” and “social” obstacles they must overcome on their journey to parenthood. This review also describes how a relatively novel treatment strategy, co-in vitro fertilization, can give couples greater flexibility and provide them with the unique opportunity of a shared biological motherhood.


2019 ◽  
Vol 22 (6) ◽  
pp. 672-680 ◽  
Author(s):  
Ulrika Zagai ◽  
Paul Lichtenstein ◽  
Nancy L. Pedersen ◽  
Patrik K. E. Magnusson

AbstractThe Swedish Twin Registry functions as research infrastructure containing information on 216,258 twins born between 1886 and 2015, of whom 86,199 pairs have zygosity determined by DNA, an intrapair similarity algorithm, or being of opposite sex. In essence, practically all twins alive and currently 9 years or older have been invited for participation and donation of DNA on which genomewide single nucleotide polymorphisms array genotyping has been performed. Content, management and alternatives for future improvements are discussed.


Author(s):  
Georgina L. Jones ◽  
Victoria Lang ◽  
Nicky Hudson

AbstractThe year 2018 marked 40 years since the birth of Louise Brown, the first baby born as a result of pioneering in vitro fertilization (IVF) treatment. Since then, advances have seen a wide range of reproductive technologies emerge into clinical practice, including adjuvant treatments often referred to as IVF “add-ons.” However, these “optional extras” have faced growing criticism, especially when they have often come at additional financial cost to the patient and have little evidence supporting their efficacy to improve pregnancy or birth rates. Despite this, according to the latest national patient survey by the Human Fertilisation and Embryology Authority, three quarters of patients who had fertility treatment in the United Kingdom in the past two years had at least one type of treatment add-on highlighting the growing demand for these interventions. This article uses a psychosocial perspective to consider the motivations behind patient and clinician behavior along with the wider societal and economic factors that may be impacting upon the increase in the use of adjuvant treatments in fertility clinics more widely. It suggests the reasons fertility patients use unproven “optional extras” are complex, with interpersonal, psychological, and social factors intertwining to generate an increase in the use of IVF add-ons.


2008 ◽  
Vol 114 (5) ◽  
pp. 347-360 ◽  
Author(s):  
E. Ann Misch ◽  
Thomas R. Hawn

Although several lines of evidence suggest that variation in human inflammation is genetically controlled, the genes which regulate these responses are largely unknown. TLRs (Toll-like receptors) mediate recognition of microbes, regulate activation of the innate immune response and influence the formation of adaptive immunity. Cellular and molecular studies over the past several years have identified a number of common TLR polymorphisms that modify the cellular immune response and production of cytokines in vitro. In addition, human genetic studies suggest that some of these polymorphisms are associated with susceptibility to a spectrum of diseases. In this review, we summarize studies of common TLR polymorphisms and how this work is beginning to illuminate the influence of human variation on inflammation and disease susceptibility.


2019 ◽  
Vol 2 (2) ◽  
pp. 39 ◽  
Author(s):  
Dohyun Jeong ◽  
Melissa Klocke ◽  
Siddharth Agarwal ◽  
Jeongwon Kim ◽  
Seungdo Choi ◽  
...  

Synthetic biology integrates diverse engineering disciplines to create novel biological systems for biomedical and technological applications. The substantial growth of the synthetic biology field in the past decade is poised to transform biotechnology and medicine. To streamline design processes and facilitate debugging of complex synthetic circuits, cell-free synthetic biology approaches has reached broad research communities both in academia and industry. By recapitulating gene expression systems in vitro, cell-free expression systems offer flexibility to explore beyond the confines of living cells and allow networking of synthetic and natural systems. Here, we review the capabilities of the current cell-free platforms, focusing on nucleic acid-based molecular programs and circuit construction. We survey the recent developments including cell-free transcription–translation platforms, DNA nanostructures and circuits, and novel classes of riboregulators. The links to mathematical models and the prospects of cell-free synthetic biology platforms will also be discussed.


2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
M.I. Ramos-Fuentes ◽  
M.J. Cardoso-Moreno ◽  
F.J. Vaz-Leal ◽  
N. Fernandez-Sanchez ◽  
L. Rodriguez-Santos ◽  
...  

Objective:In the past few decades, new and more efficient techniques to help solve fertility problems have become widely available throughout the developed world. The aim of this study was to determine whether there were differences on psychopathology factors between women who had conceived after in vitro fertilization (IVF) and women who had conceived naturally.Methods:The sample was composed of 41 pregnant women of whom 28 women had conceived through assisted reproductive technology (IVF) and 13 had conceived naturally. Women were evaluated by week 20 of pregnancy at the Infanta Cristina University Hospital Obstetrics and Gynecology Service, in Badajoz. Women consented to complete the Symptom Checklist-90-Revised (SCL-90-R).Results:IVF women were characterized by higher scores on Anxiety Scale (t = 3.90; p = 0.045) and lower scores on Hostility Scale (t = 4.35; p = 0.041) than women who had conceived naturally. There were no differences in the others scales.Conclusions:IVF women appear to present a temperamental profile characterized by a tendency to anxiety. Further research is needed to firstly, confirm these preliminary findings, and secondly, to longitudinally explore its impact on pregnancy outcome and mother-infant attachment.


Healthcare ◽  
2021 ◽  
Vol 9 (12) ◽  
pp. 1657
Author(s):  
Catherine Meads ◽  
Laura-Rose Thorogood ◽  
Katy Lindemann ◽  
Susan Bewley

Same-sex female couples who wish to become pregnant can choose donor insemination or in-vitro fertilization (IVF)—a technique intended for infertile women. In general, women in same-sex female partnerships are no more likely to be infertile than those in opposite sex partnerships. This article investigates data available from the Government Regulator of UK fertility clinics—the Human Fertilization and Embryology Authority, which is the only data available worldwide on same-sex female couples and their fertility choices. IVF is increasing both in absolute numbers and relative proportions year on year in the UK, compared to licensed donor insemination for same-sex female couples. As IVF has greater human and financial costs than donor insemination, policies should not encourage it as the first choice for fertile women requiring sperm. Commercial transactions are taking place where fertile lesbians receive cut price, and arguably unnecessary, IVF intervention in exchange for selling their eggs to be used for other infertile customers. If women are not told about the efficacy of fresh vs. frozen semen, and the risks of egg ‘sharing’ or intra-couple donation, exploitation becomes possible.


Author(s):  
George E. Seidel

Procedures to maintain viability of mammalian gametes and embryos in vitro, including cryopreservation, have been exceedingly valuable for my research over the past 55 years. Keeping sperm viable in vitro enables artificial insemination, which, when combined with selective breeding, often is the most effective approach to making rapid genetic change in a population. Superovulation and embryo transfer constitute a parallel approach for amplifying reproduction of female mammals. More recent developments include sexing of semen, in vitro fertilization, cloning by nuclear transfer, and genetic modification of germline cells, tools that are enabled by artificial insemination and/or embryo transfer for implementation. I have been fortunate in being able to contribute to the development of many of the above techniques, and to use them for research and applications for improving animal agriculture. Others have built on this work to circumvent human infertility, assist reproduction of companion animals, and rescue endangered species. It also has been a privilege to teach, mentor, and be mentored in this area. Resulting worldwide friendships have enriched me personally and professionally. Expected final online publication date for the Annual Review of Animal Biosciences, Volume 10 is February 2022. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.


2021 ◽  
pp. 17-26
Author(s):  
G.Zh. Anartaeva ◽  
A.M. Kurmanova ◽  
N.M. Mamedalieva ◽  
S.B. Baikoshkarova

Relevance: To date, the success of in vitro fertilization (IVF) programs in Kazakhstan is 38%. The purpose of the study was to evaluate the mechanisms of influence of various risk factors on endometrial receptivity in women in IVF programs. Materials and Methods: This review was based on a search conducted for domestic and foreign publications available in Russian and international search systems (PubMed, eLibrary) for the past 25 years. Results: Chronic endometritis is a verified cause of impaired receptivity. Many studies have proven the beneficial effect of complex empirical treatment using antibacterial, anti-inflammatory, hormonal therapy with transdermal forms of estrogens and vitamin therapy on the outcome of IVF. Conclusion: The problem of recurrent implantation disorders in IVF programs is multifactorial. Women with unrealized reproductive function require rehabilitation after an unsuccessful fertilization attempt to prevent disorders of homeostasis and ensure adequate pain relief during transvaginal puncture of ovarian follicles. In addition to hormone therapy with transdermal forms of estradiol, complex rehabilitation measures shall include immunomodulatory therapy, psychotherapy, and vitamin therapy.


Author(s):  
Aisha Elaimi

The field of medical genetics has seen significant and incredible advances in technology for the past several decades. Genetic technologies, particularly in the reproductive medicine discipline, represent a fresh era in medicine that may develop significantly in the coming years. The purpose of Preimplantation Genetic Testing (PGT) in the situation of assisted reproductive technology (ART) treatments with IVF (in vitro fertilization) or ICSI (intracytoplasmic sperm injection) is particularly controversial as it is done before implantation [1]. However, despite the successful application of PGT in the field of IVF in overcoming infertility and genetic defects, the techniques pose various limitations, and concerns that need to be addressed to enhance their success rate [2]. This review will introduce PGT and summarize the molecular techniques used in its application as well as highlight the future advances in the field.


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