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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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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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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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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FDA approves Apremilast [Otezla] to treat psoriatic arthritis (PsA)

March 21, 2014 – (This post relayed from the FDA Press Release site. No editing; if any, copyrights remain with FDA or its respective holder(s)).

The U.S. Food and Drug Administration today approved Otezla (apremilast) to treat adults with active psoriatic arthritis (PsA).

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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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Unlucky women with BIA-ALCL: An update

February 17, 2019 – The unfortunate recognition of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL), a very rare form of a T-cell lymphoma, gains more momentum by the day. This is actually very positive a development, because it helps women who are getting breast implants for whatever reasons to better known associated health risks,

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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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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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Febuxostat (Uloric) and its problem with cardiovascular mortality

January 16, 2109 – Despite drug safety problems of cardiovascular mortality with Febuxostat (Uloric), the benefits might still be seen to outweigh risks for selected gout patients. This notion may become more and disputed over time, however, for obvious reasons.

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  • Gene that protects against osteoarthritis identified December 2, 2020
    Osteoarthritis is one of the most common problems associated with aging, and although there are therapies to treat the pain that results from the breakdown of the cartilage that cushions joints, there are no available therapies to modify the course of the disease.
  • Treating brain diseases now possible December 1, 2020
    Neurological diseases of the brain such as dementia, autism and schizophrenia are now a growing social problem. Nevertheless, studies on their definitive cause are still insufficient. Recently, a POSTECH research team has identified the mechanism in which such neurological diseases occur, thus solving the enigma to treating them.
  • Scientists identify new genetic MND risk factor in junk DNA December 1, 2020
    A new genetic risk factor for Motor Neurone Disease (MND), which if treated could halt or prevent the degenerative condition, has been identified in so-called 'junk DNA' by scientists at the University of Sheffield. The newly discovered genetic changes are present in up to one percent of MND patients.
  • Genomic analysis of mako shark reveals genes relating to tumor suppression in humans December 1, 2020
    Anecdotal reports claim that the incidence of cancer in sharks is very low, but there is not enough data to confirm this estimate categorically. A study published in the journal Genomics, however, presents strong evidence of anti-tumor activity in the genome of the Shortfin mako shark, Isurus oxyrinchus.
  • A large-scale tool to investigate the function of autism spectrum disorder genes November 30, 2020
    Scientists at Harvard University, the Broad Institute of MIT and Harvard, and MIT have developed a technology to investigate the function of many different genes in many different cell types at once, in a living organism. They applied the large-scale method to study dozens of genes that are associated with autism spectrum disorder, identifying how […]
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