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Could DNA testing help the most seriously affected Covid-19 patients?

April 28, 2020 – Coronavirus disease 2019 (Covid-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The disease was first identified in December 2019 in Wuhan, the capital of China’s Hubei province,

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First therapy for children with debilitating NF-1 approved in the USA

April 12, 2020 – The human genetic disease neurofibromatosis type 1 (NF-1) is a complex multi-system disorder caused by the mutation of a gene  (NF1 gene) on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types.

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HSD3B1 Genotype Predicts Prostate Cancer Outcomes

February 28, 2020 – A very recent report elucidates the possible prospective power of the knowledge about the genetic background of patients when concerned with certain clinical endpoints (disease states) and associated genes.

The researchers in the present study analyzed outcomes in white men enrolled in the E3805 CHAARTED clinical trial according to HSD3B1 genotype,

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Genetic variants of the NUDT15 gene drive toxicity in leukemia therapy

February 27, 2020 – Thiopurines are important antimetabolite drugs, which make up a critical part of curative treatment for ALL. Genetic variations can directly influence drug and effectiveness of thiopurines. Researchers at St. Jude and elsewhere previously identified NUDT15 variants as a major genetic cause of toxicity during thiopurine therapy,

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Brain, Body Incongruence in Transgenders: Gene Variants Provide Some Insights

February  06, 2020 – Some of the first biological evidence of the incongruence transgender individuals experience, because their brain indicates they are one sex and their body another, may have been found in estrogen receptor pathways in the brain of 30 transgender individuals.

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Soccer Headers Might Be More Risky for APOE4 Genotype Carriers

February 01, 2020 – Soccer headers might be more risky for APOE4 genotype carriers – this is the headline of a very recent Reuters Health article appearing in Medscape. Thus, soccer players with apolipoprotein E4 (APOE4) genotype may want to limit how many headers they do,

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The diversity of Asian genomes

January 26, 2020 – An effort to map thousends of genomes across Asia has certainly the potential to find novel gene variants affecting disease and responses to drugs, and to reveal the complex origins of Asian populations.

In a pilot study,

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Degree of African ancestry may influence gene expression levels

January 26, 2020 – Common belief holds that differences in genes (i.e., allelic variants) in combination with differing frequencies of such allelic variants in populations of different ethnic background may explain the differences in the frequency and/or severity of overt diseases in different ethnic groups and/or populations.

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Black people with natural blonde hair – Everything is possible in genetics

August 07, 2019 – Blonde hair is a rare human phenotype found almost exclusively in Europe and Oceania. Human pigmentation varies considerably within and among populations and is a function of both variation in exposure to ultraviolet radiation (UVR) and the type and quantity of melanin produced in melanocytes and keratinocytes.

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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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  • Researchers develop new approach to study the genetics of human disease July 7, 2020
    Many heritable immune diseases such as rheumatoid arthritis and blood-cell related traits derive from critical proteins not being made or not functioning correctly. But exactly how a person's genes, the regulation of these genes and how the resulting proteins interact to cause disease is not widely understood.
  • Common inherited genetic variant identified as frequent cause of deafness in adults July 6, 2020
    A common inherited genetic variant is a frequent cause of deafness in adults, meaning that many thousands of people are potentially at risk, reveals research published online in the Journal of Medical Genetics.
  • Rsearchers create an analytic tool that opens a new frontier of cancer discovery July 6, 2020
    Gene coding regions constitute 2% of the human genome. St. Jude Children's Research Hospital scientists have developed a computational tool to identify alterations that drive tumor formation in the remaining 98% of the genome. The method will aid discovery of oncogenes and advances in precision medicine for children and adults with cancer.
  • Discovery of new disease-susceptibility gene for steroid-sensitive nephrotic syndrome July 3, 2020
    An international research collaboration, including Professor Iijima Kazumoto et al. (of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children. The NPHS1 gene encodes nephrin, a component protein for the renal glomerulus slit diaphragm, which prevents protein from being passed […]
  • How digital tools can advance quality and equity in genomic medicine July 3, 2020
    The pandemic has forced health care providers to find new ways to connect with patients through screens. For genetic specialists, who provide patients and families with genetic testing for conditions linked to DNA, connecting with patients is an important part of helping them make informed medical decisions.
  • Mental health benefits of parks dimmed by safety concerns July 7, 2020
    No matter how close parks are to home, perceptions of park-centered crime may keep New Yorkers from using them.
  • Measuring tape is a critical tool for following Zika virus-exposed children July 7, 2020
    A simple measuring tape could be the key to identifying which children could developneurological and developmental abnormalities from Zika virus exposure during gestation.This is according to an invited commentary published July 7 in JAMA Network Open andwritten by Sarah Mulkey, M.D., Ph.D., prenatal-neonatal neurologist in the Division ofPrenatal Pediatrics at Children's National Hospital.
  • Repurposing public health systems to decode COVID-19 July 7, 2020
    Research published in the journal Microbial Genomics describes how national surveillance systems can be linked with the UK Biobank. This pooled data could then be used to understand how genetics and other epidemiological factors impact risk of developing severe infection.
  • Microplastic pollution harms lobster larvae, study finds July 7, 2020
    Microplastic fiber pollution in the ocean impacts larval lobsters at each stage of their development, according to new research. A study published in the Marine Pollution Bulletin reports that the fibers affect the animals' feeding and respiration, and they could even prevent some larvae from reaching adulthood.
  • Why it's no last orders for the Tequila bat July 6, 2020
    Scientists studying the 'near threatened' tequila bat, best known for its role in pollinating the Blue Agave plant from which the drink of the same name is made from, have analysed its DNA to help inform conservationists on managing their populations. The findings are published in Global Ecology and Conservation.
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