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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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In Caribbeans cystic fibrosis (CF) is driven by very rare CFTR mutations

Posted on by by Posted in Allelic Variant, Ethnicity, Genetic Predisposition, Genetic Susceptibility, Personalized Medicine, Thasso Post, Theragenomic Medicine No Comments ↓

November 03, 2019 – Cystic fibrosis (CF) is a lethal, inherited genetic disease affecting more than 70,000 people worldwide. It is usually diagnosed in childhood and causes abnormal buildup of thick mucus in the lungs and digestive tract that leads to trouble breathing,

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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 No Comments ↓

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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After an over the counter genetic test: Would you make serious health decisions?

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

October 27, 2019 – Genetic tests sold online and in shops are en vogue. More and more patients strive for it, and they (the patients) are getting back results. Results, the normal patient has no chance to understand. Not even most of treating physicians are capable to interpret in favour of their patients.

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Hidden secrets in African genomes revealed by large scale sequencing

Posted on by by Posted in Ethnicity, Genetic Background, Genetic Predisposition, Genetic Susceptibility, Thasso Post, Theragenomic Medicine No Comments ↓

October 20, 2019 – Sequencing African genomes yields new data resource with broad applicability. By collaborating globally in a new, large-scale effort, researchers have made strong progress in sequencing genomes from regions and countries across Africa. These findings will enable more broadly representative and relevant studies ranging from basic through clinical genetics.

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Clinical evidence and implementation challenges for pharmacogenomic testing

Posted on by by Posted in Allelic Variant, Genetic Background, Genetic Predisposition, Genetic Susceptibility, Personalized Medicine, Personomics, Pharmacogenetics, Thasso Post, Theragenomic Medicine No Comments ↓

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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Staying wakeful for the day: A second short sleep gene identified

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

September 06, 2019 – Wakefulness varies largely among human individuals. Barring individuals suffering from diseases such as narcolepsy that may heavily dictate an individual’s daily sleep and wakefulness pattern, there are individuals in the general population who needs a lot of sleep and there are those who seemingly never sleep and still feel fit and good at performing their daily tasks.

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

Posted on by by Posted in Genetic Background, Genetic Predisposition, New Research, On The Horizon, Personalized Medicine, Thasso Post, Theragenomic Medicine No Comments ↓

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

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

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

Posted on by by Posted in Ethnicity, Genetic Background, Genetic Predisposition, Genetic Susceptibility, Personalized Medicine, Personomics, Thasso Post, Theragenomic Medicine No Comments ↓

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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RSS random genetics

  • 30-year study identifies need of disease-modifying therapies for maple syrup urine disease January 24, 2020
    A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited metabolic disorders. Researchers collected data on survival, hospitalization rates, metabolic crises, liver transplantation, and cognitive outcome. This represents the […]
  • TP53 gene variant in people of African descent linked to iron overload, may improve malaria response January 24, 2020
    In a study by The Wistar Institute and collaborators, a rare, African-specific variant of the TP53 gene called P47S causes iron accumulation in macrophages and other cell types and is associated with poorer response to bacterial infections, along with markers of iron overload in African Americans. Macrophage iron accumulation disrupts their function, resulting in more […]
  • Scientists highlight potential of exposome research January 23, 2020
    Over the last two decades, the health sciences have been transformed by genomics, which has provided insights into genetic risk factors for human disease. While powerful, the genomics revolution has also revealed the limits of genetic determinants, which account for only a fraction of total disease risk. A new article in the journal Science argues […]
  • Researchers uncover mechanism for how common gene therapy vectors enter cells January 23, 2020
    Researchers led by a team at Massachusetts Eye and Ear have identified a novel cellular entry factor for adeno-associated virus vector (AAV) types—the most commonly used viral vectors for in vivo gene therapy. AAVs are vectors—or vehicles—that are created from a virus that is made harmless by molecular engineering, and have shown promise transporting genetic […]
  • Largest-ever study ties over 100 genes to autism January 23, 2020
    More than 100 genes appear to be involved in autism spectrum disorders (ASD), according to the largest genetic study of the condition to date.

RSS random science

  • More than 40% of status epilepticus patients suffer adverse outcomes January 24, 2020
    A new study published in Seizure gives insight into the short-term outcome of patients treated for status epilepticus in Kuopio University Hospital in Finland. The researchers found a 9% risk of death and a 32% risk of functional loss at one month after status epilepticus. The patient's risk of death could be predicted relatively reliably […]
  • A new twist on quantum communication in fiber January 24, 2020
    New research done at the University of the Witwatersrand in Johannesburg, South Africa, and Huazhang University of Science and Technology in Wuhan, China, has exciting implications for secure data transfer across optical fiber networks.
  • The regulators active during iron deficiency January 24, 2020
    Iron deficiency is a critical situation for plants, which respond using specific genetic programmes. Biologists from Heinrich Heine University Düsseldorf (HHU) and Michigan State University (MSU) used artificial intelligence methods to examine how to predict regulatory genetic sequences. They have now published the findings from their joint research work in the journal Plant Physiology.
  • Brain-cell helpers powered by norepinephrine during fear-memory formation January 24, 2020
    A sustained state of vigilance will generate a different type of memory than a momentary startle, and these differences are linked to distinct signaling molecules in the brains of mice. Researchers at the RIKEN Center for Brain Science (CBS) have visualized these dynamics in the living mouse brain for the first time, observing two molecular […]
  • What goes up may actually be down January 24, 2020
    A new study in Frontiers in Neuroscience used virtual reality to determine how people plan their movements by 'seeing' gravity using visual cues in the landscape around them, rather than 'feeling it' through changes in weight and balance.
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