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Open Access

ISSN 2577-5790

© 2021 by the authors; CC BY 4.0 licence

OBM Genetics , Volume 5 , Issue 4 (2021)

Pages: 49

Published: March 2022

(This book is a printed edition that was published in OBM Genetics)

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Cover Story:If you had a pregnancy with a genetic disorder would you want to know? We asked women with children who were born with a de novo genetic disorder about their views on the use of predictive genetic technology during pregnancy.View this paper.

Volume 5,Issue 4

Open Access Perspective

Understanding the Regulation of Transcription in Mental Illness

Received: 17 June 2021;  Published: 17 November 2021;  doi: 10.21926/obm.genet.2104143

Abstract

Advances in clinical psychiatry have been less than hoped for relative to the achievements in neuroscience. However, developments in neuromodulation and psychedelic therapy are promising. The efficacy of such treatments and canonical pharmacotherapies benefit from genetics and personalized medicine. Moreover, recent studies on the perturbation of transcription, including chromatin remodeling, in mental illness emphasized the importance of single-cell qPCR as an investigatory method that bolster [...]

Open Access Original Research

Would I have Wanted to Know? A Qualitative Exploration of Women’s Attitudes, Beliefs and Concerns about Non-Invasive Prenatal Testing for de novo Genetic Conditions after having a Child with a de novo Genetic Disorder

Received: 07 September 2021;  Published: 03 November 2021;  doi: 10.21926/obm.genet.2104142

Abstract

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted [...]

Open Access Original Research

Unexpected Associations between the Number of FRAXE Repeats in Boys and Evidence of Diabetes in Their Mothers and Maternal Grandmothers

Received: 17 May 2021;  Published: 29 October 2021;  doi: 10.21926/obm.genet.2104141

Abstract

The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether the health of ancestors of boys from whom the relevant X chromosome was inherited differed in any way according to the number of FRA [...]

Open Access Opinion

Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

Received: 15 July 2021;  Published: 09 October 2021;  doi: 10.21926/obm.genet.2104140

Abstract

In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objectio [...]
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