Blog Archives

Clinical evidence and implementation challenges for pharmacogenomic testing

September 18, 2019 – This post is an edited version of parts of a paper that appeared in the Journal of Personalised Medicine (JPM) a week ago und which addresses one of the important topics in connection with the themes of personalised medicine,

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Variables of prospective response rates of PD-1/PD-L1 based therapies across cancers

August 28, 2019 – Immune checkpoint inhibitor (ICI) therapy is a form of cancer immunotherapy. The therapy targets immune checkpoints, key regulators of the immune system that when stimulated can dampen the immune response to an immunologic stimulus.

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Onasemnogene abeparvovec-xioi (Zolgensma): Approval strategy with manipulated data?

August 13, 2019 – Onasemnogene abeparvovec-xioi (Zolgensma) is an adeno-associated virus vector-based gene therapy indicated for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene.

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Cystic fibrosis: CFTR-gene editing may cure this genetic disease

August 13, 2019 – A very significant research article by the title “Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing” has just appeared in the open access Journal Nature Communications. This work provide hope to patients with cystic fibrosis (CF) that in the nearer future CF may be curable,

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ZRANB3 in African Populations: New Type 2 Diabetes risk locus identified

August 03, 2019 – Africa is considered the original cradle of all humanity, to which all humans can trace their genetic origin. This may be very interesting in the context of diseases that are due to genetic predispositions both in todays African populations and in all the populations descendant of African origin worldwide.

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Risk loci for post-traumatic stress disorder (PTSD)

August 01, 2019 – Post-Traumatic Stress Disorder (PTSD) is a mental disorder that can develop after a person is exposed to a traumatic event, such as sexual assault, warfare, traffic collisions, or other threats on a person’s life. Symptoms may include disturbing thoughts,

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Genetic aspects of globesity: Glocalized or not?

June 25, 2019 – The global obesity epidemic is so far-reaching it now has an overarching name: globesity (obviously derived from global obesity).  Very interesting questions arise in this context such as are there glocalized (global and or local) factors involved in this epidemic.

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Status of genetics behind male infertility

In recent years,

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Where portrait photos meet genetics and AI

June 13, 2019 – This is simply fascinating stuff. Researchers are testing neural networks that automatically combine portrait photos with genetic and phenotypic patient data in order to obtain definitive diagnosis of hereditary rare diseases, all with the help of artificial intelligence (AI).  

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Calcium deficiency in cells due to ORAI1 gene mutation leads to damaged tooth enamel

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  • Development and analytical validation of a next-generation sequencing based microsatellite instabili October 18, 2019
    The referenced article describes an assay that has a clinically relevant five-day turnaround time and can be conducted on as little as 20 ng genomic DNA with a batch size of up to forty samples in a single run.
  • Lifestyle is a threat to gut bacteria: Ötzi proves it October 18, 2019
    The intestinal microbiome is a delicate ecosystem made up of billions and billions of microorganisms, bacteria in particular, that support our immune system, protect us from viruses and pathogens, and help us absorb nutrients and produce energy. The industrialization process in Western countries had a huge impact on its content. This was confirmed by a […]
  • Singapore completes whole genome sequencing analysis of multi-ethnic Asian populations October 18, 2019
    A new genetic databank has been established containing the completed whole-genome sequencing (WGS) data of close to 5,000 Singaporeans. Worldwide, WGS is increasingly used in research and healthcare to identify genetic variations using cutting-edge technologies that allow large numbers of individuals to be sequenced rapidly—This new study is the world's largest WGS analysis of Asian […]
  • Researchers quantify limitations of health reports from direct-to-consumer genetic tests October 17, 2019
    Health reports from direct-to-consumer (DTC) genetic tests that use a limited variant screening approach often yield clinical false-negative results, which pose the risk of informing health care decisions based on incomplete information, according to findings presented at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas.
  • Researchers develop mouse model of human gene involved in Alzheimer's disease October 17, 2019
    In research that helps scientists better understand and explore treatments for diseases like Alzheimer's, scientists have developed a line of mice in which the mouse version of the Alzheimer's-associated MAPT gene has been fully replaced by the human version of the gene. In this new animal model, known as a full gene-replacement model, the MAPT […]
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