Blog Archives

First therapy for children with debilitating NF-1 approved in the USA

April 12, 2020 – The human genetic disease neurofibromatosis type 1 (NF-1) is a complex multi-system disorder caused by the mutation of a gene  (NF1 gene) on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types.

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Covid-19: Be careful with chloroquine and hydroxychloroquine

March 25, 2020 – The Covid-19 pandemic keeps the word abreast. Drastic measures have been and are being taken worldwide by governments, hospitals, healthcare  care providers, and retiring homes in attempts to halt the spreading of Covid-19. Recently, there have been publications by Chinese clinical researchers in the Journal Cell Research and the International Journal of Antimicrob Agents indicating that both,

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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 first genetic test to aid in the diagnosis of Fragile X Syndrome

February 26, 2020 – Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability.The average IQ in males is under 55, while about two thirds of females are intellectually disabled. Physical features may include a long and narrow face,

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Onasemnogene abeparvovec-xioi (Zolgensma): Approval strategy with manipulated data?

August 13, 2019 – Onasemnogene abeparvovec-xioi (Zolgensma) is an adeno-associated virus vector-based gene therapy indicated for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene.

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The PI3K inhibitor Alpelisib (Piqray) for progressing breast cancer in women (and men)

May 30, 2019 – The American Food and Drug Administration (FDA) recently approved Alpelisib (Piqray) to be used in combination with the FDA-approved endocrine therapy fulvestrant, to treat postmenopausal women, and men, with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative,

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Gene therapy: Zolgensma to treat spinal muscular atrophy

May 29, 2019 – Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. The severity of symptoms and age of onset varies by the type. Some types are apparent at or before birth while others are not apparent until adulthood. 

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Lemtrada: Deleterious unwanted effects in some multiple sclerosis patients

19 April 2019 – Alemtuzumab (Lemtrada) is used in the treatment of multiple sclerosis (MS). Moreover, Alemtuzumab, under the Tradenames of Campt, MabCampath and Campt-1H is on the markets for the treatment of chronic lymphocytic leukemia (CLL), cutaneous T-cell lymphoma (CTCL),

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Genomics lab illegally markets genetic tests that claim to predict patient responses to drugs

April 07, 2019 – Consumers are increasingly embracing genetic testing to better understand their individual risk for developing diseases. With this rise in popularity and availability, we’re also seeing significant activity in the field of pharmacogenetics, which is the process of understanding what, if any, role genetics plays in a patient’s reaction to particular drugs,

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New treatments for multiple sclerosis and inflammatory arthritis approved

March 31, 2019 – The American Food and Drug Administration (FDA) has just approved  drugs for two rather problematic neurological conditions, namely multiple sclerosis (i.e., Cladribine (Mavenclad)) and non-radiographic axial spondyloarthritis (i.e., Certolizumab pegol (Cimzia)), offering patients with these conditions urgently need additional therapy options. FDA approves new oral treatment for multiple sclerosis

The FDA approved Cladribine (Mavenclad) tablets to treat relapsing forms of multiple sclerosis (MS ) in adults,

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  • 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 […]
  • How a mutation on the novel coronavirus has come to dominate the globe July 2, 2020
    Flashback to mid-March: the novel coronavirus had reached San Diego, California. Few people could get tested, and even less was known about how the virus mutated as it spread from person to person.
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