Blog Archives

X-linked Hypophosphatemia: Burosumab (Crysvita) to the rescue

 December 16, 2017 – As recent as of December 14, 2017, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) has adopted a positive opinion, recommending the granting of a conditional marketing authorisation for the medicinal product Burosumab (Crysvita),

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Granpidam: A generic to Sildenafil (Revatio)

September 22, 2016 – The pharmacologically active compound known as sildenafil is largely used to treat erectile dysfunction (on the market for this indication under the trade name Viagra) and pulmonary arterial hypertension (on the market for this indication under the trade name Revatio) in the United

States (US),

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Palbociclib (Ibrance): New treatment for advanced or metastatic breast cancer in the EU

 September 17, 2016 – Breast cancer is the most common cancer in women worldwide, with nearly 1.7 million new cases diagnosed in 2012. In Europe, there were an estimated 464,000 new cases of breast cancer in 2012 and an estimated 131,000 deaths from the disease. Hormone receptor positive breast cancer accounts for 65% of tumours in women aged 35 to 65 years and 82% of tumours in women older than 65 years.

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New hope for children with the ultra-rare immune disorder ADA-SCID: Gene therapy Strimvelis recommended for approval by EMA’s CHMP

April 02, 2016 – The European Medicines Agency (EMA) has recommended granting a marketing authorisation in the European Union (EU) for a new gene therapy for the treatment of patients with adenosine-deaminase-deficient severe combined immunodeficiency (ADA-SCID), who have no matching donor for a stem cell transplant.

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Ixekizumab (Taltz) for plaque psoriasis: Positive opinion by the European CHMP

March 04, 2016 –  On February 25, 2016, the Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion, recommending the granting of a marketing authorisation for the medicinal product Ixekizumab (Taltz),

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Parkinsons Disease: Positive opinion by the CHMP issued recommending the granting of a marketing authorisation for Safinamide (Xadago)

On 18 December 2014, the Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion, recommending the granting of a marketing authorisation for the medicinal product Xadago, 50 mg and 100 mg, film-coated tablet intended for the treatment of Parkinson’s disease. 

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World Tuberculosis Day: Three new medicines recommended by EMA in last six months for patients with multidrug-resistant tuberculosis

April 09, 2104 – Usually, we talk and present here issues on health and disease, therapies notwithstanding which are based on the genetic background (i.e. predisposition) of the individual.  Another aspect of predisposition for dieseas is of course the situation where the genetics of a disease causing agent is at fault.

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  • Distinct social profile and high ASD risk, 3q29 deletion survey finds July 19, 2019
    A survey of 93 people with 3q29 deletion syndrome reveals a distinct pattern of social disability and anxiety, even without a diagnosis of autism spectrum disorder. The results were published online in Molecular Autism on July 16.
  • Study sheds light on the darker parts of our genetic heritage July 19, 2019
    More than half of our genome consists of transposons,DNA sequences that are reminiscent of ancient, extinct viruses.Transposons are normally silenced by a process known as DNA methylation, but their activation can lead to serious diseases. Very little is known about transposons but researchers in an international collaboration project have now succeeded for the first time […]
  • Molecular cause for severe multi-organ syndrome July 19, 2019
    Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare multi-organ condition that causes early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.
  • Researchers determine epigenetic origin of docetaxel-resistant breast cancer July 19, 2019
    Researchers at the Bellvitge Biomedical Research Institute (IDIBELL) have published a study in Molecular Cancer Research in which they identify methylation patterns associated with different subtypes of breast cancer, and a subclassification of the group of "triple negatives," a breast cancer type typically associated with poor prognosis. In addition, they identified changes in DNA methylation […]
  • Researchers report the function of reverse-twisting DNA July 19, 2019
    Normally, the two strands of the DNA double helix wind around each other in a right-handed spiral. However, there is another conformation called Z-DNA in which the strands twist to the left. The function of Z-DNA has remained a mystery since its discovery. A newly published paper unambiguously establishes that the Z-conformation is key to […]
  • Study sheds light on the darker parts of our genetic heritage July 19, 2019
    More than half of our genome consists of transposons, DNA sequences that are reminiscent of ancient, extinct viruses. Transposons are normally silenced by a process known as DNA methylation, but their activation can lead to serious diseases. Very little is known about transposons but researchers in an international collaboration project have now succeeded for the first time […]
  • Flexible user interface distribution for ubiquitous multi-device interaction July 19, 2019
    KAIST researchers have developed mobile software platform technology that allows a mobile application (app) to be executed simultaneously and more dynamically on multiple smart devices. Its high flexibility and broad applicability can help accelerate a shift from the current single-device paradigm to a multiple one, which enables users to utilize mobile apps in ways previously […]
  • Atomically precise models improve understanding of fuel cells July 19, 2019
    Simulations from researchers in Japan provide new insights into the reactions occurring in solid-oxide fuel cells by using realistic atomic-scale models of the electrode active site based on microscope observations instead of the simplified and idealized atomic structures employed in previous studies. This better understanding of how the structures in the cells affect the reactions […]
  • Predicting long-term risk of death from chest X-rays July 19, 2019
    Researchers in this study looked at whether a computing system that analyzed data from thousands of chest X-rays of smokers and nonsmokers and developed a risk score could predict long-term risk of death.
  • Ivacaftor may reduce common infections in patients with CF July 19, 2019
    Patients with cystic fibrosis who take ivacaftor appear to have fewer respiratory infections over time than those not taking the drug, according to new research published online in the Annals of the American Thoracic Society.
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