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Inherited mutation in ELP1 predisposes children to medulloblastoma

Posted on by by Posted in Genetic Predisposition, New Research, Thasso Post, Theragenomic Medicine, Uncategorized No Comments ↓

April 03, 2020 – Medulloblastoma is the most common malignant pediatric brain tumor. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. 

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Three idiopathic pulmonary fibrosis (IPF)-associated genes newly identified

Posted on by by Posted in Gene Expression, Genetic Background, Genetic Susceptibility, New Research, Personalized Medicine, Thasso Post, Theragenomic Medicine No Comments ↓

March 05, 2020 – Idiopathic pulmonary fibrosis (IPF) is a type of chronic scarring lung disease characterized by a progressive and irreversible decline in lung function. Symptoms typically include gradual onset of shortness of breath and a dry cough.

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HSD3B1 Genotype Predicts Prostate Cancer Outcomes

Posted on by by Posted in Allelic Variant, Genetic Background, Genetic Predisposition, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

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

Posted on by by Posted in Allelic Variant, Genetic Background, Genetic Predisposition, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

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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How relates lifetime prevalence of skin cancer to sexual orientation

Posted on by by Posted in New Research, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓
February 16, 2020 – An often asked question is whether there is an association between sexual orientation and lifetime prevalence of skin cancer. According to a cross-sectional study of 845’ 264 adults in the US, just published in JAMA Dermatology as recent as February 12,

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

Posted on by by Posted in Allelic Variant, Genetic Background, New Research, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

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

Posted on by by Posted in Allelic Variant, Genetic Background, Genetic Predisposition, Genetic Susceptibility, In The Press, New Research, Thasso Post, Theragenomic Medicine No Comments ↓

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

Posted on by by Posted in Allelic Variant, Ethnicity, Genetic Background, Genetic Predisposition, Genetic Susceptibility, New Research, Thasso Post, Theragenomic Medicine, Theragenomics No Comments ↓

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

Posted on by by Posted in Allelic Variant, Ethnicity, Gene Expression, Genetic Susceptibility, New Research, Thasso Post, Theragenomic Medicine No Comments ↓
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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Is laziness a personal choice or a genetic trait?

Posted on by by Posted in Genetic Background, Genetic Predisposition, New Research, Thasso Post, Theragenomic Medicine 1 Comment ↓

November 02, 2019 – Is laziness a choice or genetic trait? At the age where genetics seems to explain everything, it is certainly interessant to learn that a seemingly personal choice such as laziness as such may loom somewhere in your genetic outfit. Perhaps, you can not escape your laziness behaviour,

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RSS random genetics

  • Study of rare genetic disorder that effects the eyes April 3, 2020
    Nagano prefecture is home to a group of people affected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies (FAP). This disease impacts the gene encoding protein transthyretin (TTR) which is produced in the liver and also eyes. Liver transplants are often a treatment for this disease, but severe eyesight problems such as cloudiness […]
  • Natural sunscreen gene influences how we make vitamin D April 2, 2020
    Genetic variations in the skin can create a natural sunscreen, according to University of Queensland researchers investigating the genes linked with vitamin D.
  • Single mutation leads to big effects in autism-related gene April 2, 2020
    A new study in Neuron offers clues to why autism spectrum disorder (ASD) is more common in boys than in girls. National Institutes of Health scientists found that a single amino acid change in the NLGN4 gene, which has been linked to autism symptoms, may drive this difference in some cases. The study was conducted […]
  • Lifestyle changes could delay memory problems in old age, depending on our genes April 2, 2020
    Researchers from King's College London have shown that how we respond to changes in nutrients at a molecular level plays an important role in the aging process, and this is directed by some key genetic mechanisms.
  • Geneticists are bringing personal medicine closer for multiracial individuals April 2, 2020
    A new study in Nature Communications proposes a method to extend polygenic scores, the estimate of genetic risk factors and a cornerstone of the personalized medicine revolution, to individuals with multiple ancestral origins. The study was led by Dr. Davide Marnetto from the Institute of Genomics of the University of Tartu, Estonia and coordinated by […]

RSS random science

  • Study of rare genetic disorder that effects the eyes April 3, 2020
    Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis.
  • Tissue dynamics provide clues to human disease April 3, 2020
    Scientists in EMBL Barcelona's Ebisuya group, with collaborators from RIKEN, Kyoto University, and Meijo Hospital in Nagoya, Japan, have studied oscillating patterns of gene expression, coordinated across time and space within a tissue grown in vitro, to explore the molecular causes of a rare human hereditary disease known as spondylocostal dysostosis. Their results are published […]
  • Coronavirus: Virological findings from patients treated in a Munich hospital April 3, 2020
    In early February, research teams from Charité - Universitätsmedizin Berlin, München Klinik Schwabing and the Bundeswehr Institute of Microbiology published initial findings describing the efficient transmission of SARS-CoV-2. The researchers' detailed report on the clinical course and treatment of Germany's first group of COVID-19 patients has now been published in Nature*. Criteria may now be […]
  • Case study: Treating COVID-19 in a patient with multiple myeloma April 3, 2020
    A case study of a patient in Wuhan, China, suggests that the immunosuppressant tocilizumab may be an effective COVID-19 treatment for very ill patients who also have multiple myeloma and other blood cancers. The report, published in Blood Advances, also suggests that blood cancer patients may have atypical COVID-19 symptoms.
  • Indigenous American ancestry may be associated with HER2-positive breast cancer April 3, 2020
    An increased proportion of Indigenous American (IA) ancestry was associated with a greater incidence of HER2-positive breast cancer, according to a study published in Cancer Research, a journal of the American Association for Cancer Research.
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