Research published in GenomeMedicine reports that mifepristone, a drug that modifies the effect of the hormone progesterone, could reduce the risk of aggressive breast cancer in women.
). This study conformed to the principles of the Helsinki Declaration. The trial was prospectively registered, and the date of first patient enrolment was 24 November 2009; the last subject was screened in November 2013 and the last study contact was in January 2015. Data were collected at the Karolinska University Hospital, Stockholm, Sweden. Mifepristone was obtained from Exelgyn, Paris, France, and visually indistinguishable vitamin B from Recip, Stockholm, Sweden.
From Clinical Trial 1, 12 women from each of the vitamin and mifepristone groups were included in this study; of these, 11 and 9 women, respectively, had provided sufficient DNA from the pre- and post-treatment biopsies for subsequent processing and analysis. In addition, 15 women from the mifepristone group were also used to extract RNA and subsequent downstream processing and analysis were performed to check RANKL expression and cell type proportion analysis.
” . This study conformed to the principles of the Helsinki Declaration. This trial was prospectively registered, the first patient was consented in March 2016 and the last in March 2019. The main data collection took place at Manchester University NHS Foundation Trust, Manchester, U.K. Commercially available ulipristal acetate 5 mg tablets were administered.
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Addressing the routine failure to clinically identify monogenic cases of common disease - Genome MedicineChanges in medical practice are needed to improve the diagnosis of monogenic forms of selected common diseases. This article seeks to focus attention on the need for universal genetic testing in common diseases for which the recommended clinical management of patients with specific monogenic forms of disease diverges from standard management and has evidence for improved outcomes.We review evidence from genomic screening of large patient cohorts, which has confirmed that important monogenic case identification failures are commonplace in routine clinical care. These case identification failures constitute diagnostic misattributions, where the care of individuals with monogenic disease defaults to the treatment plan offered to those with polygenic or non-genetic forms of the disease.The number of identifiable and actionable monogenic forms of common diseases is increasing with time. Here, we provide six examples of common diseases for which universal genetic test implementation would drive improved care. We examine the evidence to support genetic testing for common diseases, and discuss barriers to widespread implementation. Finally, we propose recommendations for changes to genetic testing and care delivery aimed at reducing diagnostic misattributions, to serve as a starting point for further evaluation and development of evidence-based guidelines for implementation.
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Storing and analyzing a genome on a blockchain - Genome BiologyThere are major efforts underway to make genome sequencing a routine part of clinical practice. A critical barrier to these is achieving practical solutions for data ownership and integrity. Blockchain provides solutions to these challenges in other realms, such as finance. However, its use in genomics is stymied due to the difficulty in storing large-scale data on-chain, slow transaction speeds, and limitations on querying. To overcome these roadblocks, we developed a private blockchain network to store genomic variants and reference-aligned reads on-chain. It uses nested database indexing with an accompanying tool suite to rapidly access and analyze the data.
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R Kelly Sentenced To 30 Years In Prison In Racketeering And Sex Trafficking CaseR&B singer R Kelly has been sentenced to 30 years in prison by a US federal court in New York for masterminding an elaborate scheme to entice and sexually exploit young aspiring singers and underage children.
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Breast cancer: 'I knew my body wasn't right''I should have been scanned from the start' - a terminally ill woman faced a 13 month wait to learn she had breast cancer
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