Blog Archives

Risk loci for post-traumatic stress disorder (PTSD)

August 01, 2019 – Post-Traumatic Stress Disorder (PTSD) is a mental disorder that can develop after a person is exposed to a traumatic event, such as sexual assault, warfare, traffic collisions, or other threats on a person’s life. Symptoms may include disturbing thoughts,

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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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Creative dancing and the genetic predisposition of it

May 06, 2019 – Dancing, integrally related to music, likely has its origins close to the birth of Homo sapiens. Some researchers for a long time have hypothesized that there are differences in aptitude, propensity, and need for dancing that may be based on differences in common genetic polymorphisms.

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Actionable pharmacogenetic markers for prediction and prognosis in breast cancer

Sacco K, Grech G

EPMA J 2015;6(1):15

PMID: 26203310

Abstract

Breast cancer is a heterogeneous disease that necessitates proper patient classification to direct surgery, pharmacotherapy, and radiotherapy. Despite patients within the same subgroup receiving similar pharmacotherapy, substantial variation in clinical outcomes is observed.

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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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  • Sickle cell anemia is an inherited form of anemia February 28, 2020
    It's important to know the the symptoms, causes, and treatment of sickle cell anemia, an inherited blood disorder that, in the United States, is more common among African Americans.
  • Scientists discover three genes associated with fatal lung disease February 28, 2020
    Researchers at the Universities of Leicester and Nottingham have discovered parts of the DNA that put some people at higher risk of an incurable lung disease called idiopathic pulmonary fibrosis (IPF). The findings are published in the American Journal of Respiratory and Critical Care Medicine today, after an earlier version was posted online in November […]
  • An understudied cause of cancer: Mutations in regulators of cell signaling February 28, 2020
    Mutations in a vital class of regulatory molecules are an underappreciated cause of cancer because they impair the function of "G" proteins, a versatile and vast family of signaling switches that underlie innumerable biological facets of life itself.
  • Could new discovery play a role in diagnosing Alzheimer's earlier? February 27, 2020
    Scientists have detected that a previously overlooked gene behavior could potentially lead to a new way to diagnose Alzheimer's earlier.
  • Huntington's disease-causing DNA repeat mutations reversed in the lab February 27, 2020
    Neurodegenerative diseases, like Huntington's disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length in the affected tissues contribute to earlier age of disease onset and worsen the progression and severity of the disease over time.
  • Researchers announce progress in developing an accurate, noninvasive urine test for prostate cancer February 28, 2020
    Researchers at the Johns Hopkins Kimmel Cancer Center have made significant progress toward development of a simple, noninvasive liquid biopsy test that detects prostate cancer from RNA and other specific metabolic chemicals in the urine.
  • Anomalies in structure of polyvalent metal melts explained February 28, 2020
    Metals and their alloys are the main structural materials of modern civilization. The properties of metal melts are well studied. However, according to Anatoly Mokshin, one of the co-authors of the publication, Chair of the Department of Computational Physics at Kazan Federal University, for more than 25 years, scientists from all over the world have […]
  • New platform for engineering ribosomes to 'cook new cuisines' February 28, 2020
    Researchers have created a method for cell-free synthesis and evolution of new ribosomes that can specialize in the synthesis of functional materials and therapeutics.
  • Cartilage cells, chromosomes and DNA preserved in 75-million-year-old baby duck-billed dinosaur February 28, 2020
    In a paper published online in National Science Review, an international team of scientists present evidence of fossilized cell nuclei and chromosomes within preserved cartilage in a baby duck-billed dinosaur. This dinosaur belongs to Hypacrosaurus and comes from a nesting ground discovered in 1988 by paleontologist Jack Horner in Late Cretaceous sediments of Northwest Montana.
  • Gene therapy generates new neurons to treat Huntington's disease February 28, 2020
    Huntington's disease (HD) is a rare disease with chorea movement and caused by Huntingtin (Htt) gene mutation and neurodegeneration. A research group led by Dr. Gong Chen has developed a novel gene therapy to regenerate functional new neurons in mouse models of HD. The work has been published in Nature Communications on February 27, 2020.
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