Blog Archives

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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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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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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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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  • Genetic discovery could lead to better prediction of suicide risk within families November 26, 2020
    Every 11 minutes, an American dies by suicide. That's 132 people a day or more than 48,000 annually. For those left behind, the haunting question is why.
  • The genetics of side-effects November 25, 2020
    Henk-Jan Guchelaar knows all too well the serious problems that the side-effects of medication can cause. As a professor of clinical pharmacy at the University of Leiden in the Netherlands, he has spent the last two decades trying to get the link between medicine and our genes recognised more widely.
  • Gene donors at high risk for cancer received feedback November 25, 2020
    Researchers at the Estonian Genome Center at the University of Tartu studied how people at high risk for breast, ovarian or prostate cancer responded to the feedback of genetic findings. Gene donors who chose to receive results appreciated being contacted and considered the information provided to be valuable. Authors find that knowing more about people's […]
  • Researchers reveal how genetic variations are linked to COVID-19 disease severity November 25, 2020
    Even as tens of thousands of Americans test positive for COVID-19 each day, physicians still aren't sure why some people experience mild to no symptoms while others become critically ill. New research led by Robert E. Gerszten, MD, Chief of the Division of Cardiovascular Medicine at Beth Israel Deaconess Medical Center (BIDMC) sheds new light […]
  • Study identifies new functions in the gene that causes Machado-Joseph disease November 25, 2020
    Ataxia is a minority disease with genetic origins, known for its neuromuscular alterations due to the selective loss of neurons in the cerebellum, the organ of our nervous systems which controls movement and balance. UB researchers have identified new functions in the ataxin 3 gene (ATXN3)–which causes Machado-Joseph disease, the most common type of ataxia– […]
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