Blog Archives

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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Direct-to-Consumer Genetic Testing: Are Patients Ready?

March 31, 2018 – Are patients ready for direct-to-consumer genetic testing?  This was the very important and central question that came up in the article by Matt Smith on Medscape, published March 29, 2018.

Since thasso is all about theragenomic and personalized medicine  and individualized drug safety (i.e.

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Precision Medicine Initiative: draft guidances issued

July 9, 2016 – This is a huge step into the future of theragenomic and personalized medicine and individualized drug safety. In support of the President’s Precision Medicine Initiative (PMI), the American Food & Drug Administration (FDA) just issued two draft guidances that,

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Theragenomic Medicine: Palbociclib (Ibrance) approved for postmenopausal women with advanced (metastatic) breast cancer

February 8, 2015 – The American Food and Drug Administration (FDA) has granted accelerated approval to Palbociclib (Ibrance) to treat advanced (metastatic) breast cancer.  The FDA granted Ibrance breakthrough therapy designation because the sponsor demonstrated through preliminary clinical evidence that the drug may offer a substantial improvement over available therapies.

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India steps closer to Personalized Medicine

July 01, 2014 – As the knowledge of genetics and genomics rapidly expand, a personalized approach to health care is becoming increasingly important. India is fast becoming a promising contender in the global healthcare arena The majority of the global healthcare industry is ready to offer solutions for the masses.

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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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Apple plan to revolutionize mobile healthcare: Personalized medicine at the horizon on the iPhone and the likes

Apple has unveiled HealthKit, a platform to centralise data from different types of devices, like fitness trackers, heart rate and blood pressure monitors.

iphone healthLaunching iOS 8 for iPhones and iPads, which it describes as the biggest release since the launch of the App Store,

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FDA approves Siltuximab [Sylvant] for rare Castleman’s disease

April 23, 2014 – The U.S. Food and Drug Administration today approved Sylvant (siltuximab) to treat patients with multicentric Castleman’s disease (MCD), a rare disorder similar to lymphoma (cancer of the lymph nodes).

MCD causes an abnormal overgrowth of immune cells in lymph nodes and related tissues in the body.

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Can We Identify Risk for Drug Toxicity?

October 10, 2013 – Very recently, David Kerr, Professor of Cancer Medicine at University of Oxford, in the United Kingdom, and past President of the European Society for Medical Oncology, talked on Medscape (see the video here) about risk-benefit analyses for novel, inventive cancer treatments. See here in italics his statement:

 When we talk about precision medicine and personalized medicine,

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EMA: Public consultation open on concept paper on pharmacogenomics in evaluation of authorised medicines

January 26, 2012 – I am relaying the information below by the EMA to the readers of this blog. It might be interessting to dwell into this concept paper (as a scientist, a treating physician, or an informed patient) for informations only or even for commenting.

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 The European Medicines Agency (EMA) has released a concept paper on the development of a guideline on the evaluation of pharmacogenomic methodologies in the evaluation of authorised medicines for public consultation.

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  • Researchers develop new approach to study the genetics of human disease July 7, 2020
    Many heritable immune diseases such as rheumatoid arthritis and blood-cell related traits derive from critical proteins not being made or not functioning correctly. But exactly how a person's genes, the regulation of these genes and how the resulting proteins interact to cause disease is not widely understood.
  • Common inherited genetic variant identified as frequent cause of deafness in adults July 6, 2020
    A common inherited genetic variant is a frequent cause of deafness in adults, meaning that many thousands of people are potentially at risk, reveals research published online in the Journal of Medical Genetics.
  • Rsearchers create an analytic tool that opens a new frontier of cancer discovery July 6, 2020
    Gene coding regions constitute 2% of the human genome. St. Jude Children's Research Hospital scientists have developed a computational tool to identify alterations that drive tumor formation in the remaining 98% of the genome. The method will aid discovery of oncogenes and advances in precision medicine for children and adults with cancer.
  • Discovery of new disease-susceptibility gene for steroid-sensitive nephrotic syndrome July 3, 2020
    An international research collaboration, including Professor Iijima Kazumoto et al. (of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children. The NPHS1 gene encodes nephrin, a component protein for the renal glomerulus slit diaphragm, which prevents protein from being passed […]
  • How digital tools can advance quality and equity in genomic medicine July 3, 2020
    The pandemic has forced health care providers to find new ways to connect with patients through screens. For genetic specialists, who provide patients and families with genetic testing for conditions linked to DNA, connecting with patients is an important part of helping them make informed medical decisions.
  • Mental health benefits of parks dimmed by safety concerns July 7, 2020
    No matter how close parks are to home, perceptions of park-centered crime may keep New Yorkers from using them.
  • Measuring tape is a critical tool for following Zika virus-exposed children July 7, 2020
    A simple measuring tape could be the key to identifying which children could developneurological and developmental abnormalities from Zika virus exposure during gestation.This is according to an invited commentary published July 7 in JAMA Network Open andwritten by Sarah Mulkey, M.D., Ph.D., prenatal-neonatal neurologist in the Division ofPrenatal Pediatrics at Children's National Hospital.
  • Repurposing public health systems to decode COVID-19 July 7, 2020
    Research published in the journal Microbial Genomics describes how national surveillance systems can be linked with the UK Biobank. This pooled data could then be used to understand how genetics and other epidemiological factors impact risk of developing severe infection.
  • Microplastic pollution harms lobster larvae, study finds July 7, 2020
    Microplastic fiber pollution in the ocean impacts larval lobsters at each stage of their development, according to new research. A study published in the Marine Pollution Bulletin reports that the fibers affect the animals' feeding and respiration, and they could even prevent some larvae from reaching adulthood.
  • Why it's no last orders for the Tequila bat July 6, 2020
    Scientists studying the 'near threatened' tequila bat, best known for its role in pollinating the Blue Agave plant from which the drink of the same name is made from, have analysed its DNA to help inform conservationists on managing their populations. The findings are published in Global Ecology and Conservation.
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