Blog Archives

Abdominal aortic aneurysm: Genetic scoring can identify more men at risk

May 07, 2020 – Abdominal aortic aneurysm (AAA) is a localized enlargement of the abdominal aorta such that the diameter is greater than 3 cm or more than 50% larger than normal. AAAs usually cause no symptoms, except during rupture. 

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Are Asians at higher genetic risk of serious adverse events to common medications?

March 10, 2020 – A widespread assumption is, the people of Asian descent are more prone to serious, sometimes deadly adverse drug reactions, even when taking rather common medications prescribed for gout through to depression. In the ages of genetics and precision medicine, the question then comes up if Asian people could be at such heightened risk because of underlying particular genetic factors.

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The phenotype broker: Blockchain and patient phenotype

July 26, 2019 – “Blockchains for secure digitized medicine”. This is the title of a very interesting and important article in the Journal of Personalised Medine (JPM) as of May 28, 2019.

Blockchain as an emerging technology (particularly around the hype on Bitcoins) has been gaining in popularity,

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

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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Heart disease prediction by traditional risk factors as good as with an exhaustive genetic test

February 20, 2020 – Traditional cardiovascular risk factors often assessed in an annual physical, such as blood pressure, cholesterol levels, diabetes, and smoking status, may at least be as valuable in predicting who will develop coronary heart disease (CHD) as a sophisticated genetic test that surveys millions of different points in DNA,

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The Apomediary [Patient Expert] and Personalized Medicine: A Commentary

June 22, 2014 – The individuum (i.e., patient) is the phenotype expert on her/his individualized form of proper disease she/he is suffering from. It is not her/his treating physician, it is not a regulatory person concerned with the safety and efficacy of the medication geared towards treating her/his condition,

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

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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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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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  • Single-cell RNA sequencing reveals details about individual cells in pancreatic tumors September 30, 2020
    Led by the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, and by HonorHealth Research and Innovation Institute, an international team of researchers have described in detail the individual cells that comprise the pancreatic cancer microenvironment, a critical step in devising new treatment options for patients with this aggressive and difficult-to-treat disease.
  • Study: Neanderthal genes are a liability for COVID patients September 30, 2020
    Scientists say genes that some people have inherited from their Neanderthal ancestors may increase their likelihood of suffering severe forms of COVID-19.
  • Concealed cardiomyopathies revealed in cardiac arrest survivors September 30, 2020
    Centenary Institute researchers have discovered that genetic testing can identify "concealed cardiomyopathies" in nearly a quarter of sudden cardiac arrest (SCA) survivors who seem to have a normal heart.
  • Genetic risk of developing obesity is driven by variants that affect the brain September 29, 2020
    Some people are at higher risk of developing obesity because they possess genetic variants that affect how the brain processes sensory information and regulates feeding and behavior. The findings from scientists at the University of Copenhagen support a growing body of evidence that obesity is a disease whose roots are in the brain.
  • Inflammatory gene provides clue to obesity risk September 29, 2020
    A gene that helps to control inflammation increases the risk of obesity and could be turned off in mice to stop weight gain, a study from The University of Queensland has found.
  • Single-cell RNA sequencing reveals details about individual cells in pancreatic tumors September 30, 2020
    Led by the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, and by HonorHealth Research and Innovation Institute, an international team of researchers have described in detail the individual cells that comprise the pancreatic cancer microenvironment, a critical step in devising new treatment options for patients with this aggressive and difficult-to-treat disease. […]
  • Ocean warming and acidification effects on calcareous phytoplankton communities September 30, 2020
    A new study led by researchers from the Institute of Environmental Science and Technology of the Universitat Autònoma de Barcelona (ICTA-UAB) warns that the negative effects of rapid ocean warming on planktonic communities will be exacerbated by ocean acidification.
  • Videos most effective in communicating with parents about secondhand smoke risks September 30, 2020
    The best way to communicate with parent smokers about the risks of secondhand smoke to their children is to use videos depicting the risks, as well as solutions to reduce those risks.
  • Antipsychotics for treating adult depression linked with higher mortality September 30, 2020
    Rutgers researchers, together with colleagues at Columbia University, have reported an increased mortality risk in adults with depression who initiated augmentation with newer antipsychotic medications compared to a control group that initiated augmentation with a second antidepressant.
  • Is it time to reframe the assisted dying debate? September 30, 2020
    Several articles published by The BMJ today explore the debate around assisted dying, in which, subject to safeguards, terminally ill people who are near to death, suffering, and of sound mind, could ask for drugs that they would take to end their lives.
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