Blog Archives

Theragenomic medicine: Accurate treatment response prediction in depressed patients

November 05, 2017 – For some patients knowingly or not knowingly suffering from depression, the upcoming period of the year (i.e., the winter season in the Northern Hemisphere) with grey days and over-porportionally long nights, might be a difficult one. Should such patients enter a antidepressant treatment,

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Biomarker-guided Larotrectinib for all cancer types?

June 09, 2017 –  It’s only a couple of days that the American Food & Drug Administration (FDA) approved for the first time a cancer treatment for any solid tumor, irrespective of the tumor’s original location, as long as the targeted tumor is carrying a specific genetic feature (i.e.,

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First cancer treatment for any solid tumor with MSI-H or dMMR approved

May 24, 2917 – The American Food & Drug Administration (FDA) just approved a major extension of the clinical indications for Pembrolizumab (Keytruda). For the first time,  a cancer treatment has been approved for any solid tumor, irrespective of the tumor’s original location, as long as the targeted tumor is carrying a specific genetic feature (i.e.,

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Just Wait A Little Longer: Suicide Biomarkers Getting Closer to the Clinic

May 01, 2014 – This is a fantastic article on a very difficult to understand topic, with often very sad outcomes.  The source of the article is Medscape and it reveals how combined efforts from different scientific appoaches may lead to molecular understanding of suicidal behavior,

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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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  • 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.
  • Scientists develop method to reveal the cell types most affected by genetic variation July 3, 2020
    Scientists at Johns Hopkins Medicine have found types of cells in the brain that are most susceptible to inherited genetic variants linked to schizophrenia. As a result, their work reveals a shortlist of the variants that most likely impact disease risk.
  • The protein that stands between us and autoimmunity July 2, 2020
    The immune system is supposed to protect from external microbial invaders, but sometimes it turns its efforts inward, potentially resulting in autoimmune diseases. In a new study, researchers from Osaka University have discovered how reversible modifications to DNA by certain proteins protect from autoimmune diseases, and conversely, how the absence of these proteins paves the […]
  • Concern following gene therapy adverse events July 2, 2020
    The Editor-in-Chief of Human Gene Therapy, the first journal devoted to the field of gene therapy, and one of the world's leading experts on gene therapy have co-authored a new editorial, Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy, in response to the news of two deaths in a now-halted […]
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