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Where portrait photos meet genetics and AI

June 13, 2019 – This is simply fascinating stuff. Researchers are testing neural networks that automatically combine portrait photos with genetic and phenotypic patient data in order to obtain definitive diagnosis of hereditary rare diseases, all with the help of artificial intelligence (AI).  

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Caplacizumab-yhdp (Cablivi): the first therapy for the treatment of aTTP

February 07, 2019 – The American Food and Drug Administration (FDA) just approved Caplacizumab-yhdp (Cablivi), the first therapy specifically indicated, in combination with plasma exchange and immunosuppressive therapy, for the treatment of adult patients with acquired thrombotic thrombocytopenic purpura (aTTP),

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Migalastat (Galafold): New treatment for Fabry disease

January 12, 2018 – Fabry disease is an inherited disorder caused by mutations (alterations) in the alpha-galactosidase A (GLA) gene located on the X-chromosome. Fabry disease is rare and affects both males and females. It is estimated that classic Fabry disease (the most severe type) affects approximately one in 40,000 males.

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Is there breast implant-associated cancer (BIA-ALCL)?

January 09, 2019 – Women should be alerted: Is there a thing like breast implant associated cancer (BIA-ALCL)? Yes, there is. Not every woman with a breast implant will get it, however. In fact, BIA-ALCL seems to be a rather rare condition; unfortunately,

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Blastic plasmacytoid dendritic cell neoplasm (BPDCN): Tagraxofusp-erzs (Elzonris) FDA approved

December 30, 2018 – Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive and rare disease of the bone marrow and blood that can affect multiple organs, including the lymph nodes and the skin and often presents as or evolves into acute leukemia. The disease is more common in men than women and in patients 60 years and older.

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First ever treatment for Lambert-Eaton myasthenic syndrome (LEMS) FDA approved

December 04, 2018 –  The American Food and Drug Administration (FDA) has just approved its first ever treatment, Amifampridine (Firdapse), for Lambert-Eaton myasthenic syndrome (LEMS), a rare autoimmune disorder for adult patients. LEMS affects the connection between nerves and muscles and causes weakness and other symptoms in affected patients. 

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Epidiolex: Marijuana-derived drug to treat rare forms of epilepsy

June 26, 2018 – The American Food and Drug Administration (FDA) just approved Cannabidiol (Epidiolex), for the treatment of seizures associated with Lennox-Gastaut syndrome and Dravet syndrome, two rare and severe forms of epilepsy, in patients two years of age and older. 

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Vemurafenib (Zelboraf) for BRAF V600E positive Erdheim-Chester Disease (ECD)

Dezember 21, 2017 – Erdheim–Chester disease ((ECD), also known as Erdheim–Chester syndrome or polyostotic sclerosing histiocytosis) is a form of a bone marrow borne blood cancer. It is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes,

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Voretigene Neparvovec-Rzyl (Luxturna): Gene therapy to treat inherited vision loss

December 20, 2017 –  The American Food & Drug Administration (FDA) has just approved  a novel gene therapy to treat patients with a rare form of inherited vision loss. Voretigene Neparvovec-Rzyl (Luxturna) is the first directly administered gene therapy approved to target a disease caused by mutations in a specific human gene (i.e.,

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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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  • Researchers identify new gene mutation in familial thyroid cancers November 20, 2019
    Researchers from Penn State College of Medicine identified a new gene mutation that may cause a type of familial thyroid cancer. Dr. Darrin Bann, an otolaryngology resident at the College of Medicine and lead author of the study, said that this mutation is the first and only mutation associated with familial thyroid cancer to be […]
  • Researchers develop new database of druggable fusion targets November 20, 2019
    When sections from two separate genes merge due to various factors, such as translocation or splicing, the hybrid that is formed is called a gene fusion. In recent years, it has been discovered that these fusion events play a vital role in the development of cancers and other complex diseases. However, there are very few […]
  • Early results of CRISPR gene-editing treatment shows promise in first human trials November 20, 2019
    Officials from Vertex Pharmaceuticals and CRISPR Therapeutics have announced that preliminary results from testing CRISPR gene-editing treatment in human patients with blood disorders show promise thus far. The joint project between the two firms is taking place at one location in Europe and another in the United States. The results have been posted on the […]
  • Whole-genome sequencing analysis to find more exact biomarkers November 20, 2019
    A new study from Uppsala University shows that whole-genome sequencing increases the precision of genetic studies, which in turn can improve our understanding of how to use biomarkers to discover disease. The results are published in the scientific journal Scientific Reports.
  • Complex organ models grown in the lab November 19, 2019
    Scientists at the University of Würzburg have successfully produced human tissues from stem cells. They have a complexity similar to that of normal tissue and are far superior to previous structures.
  • New study confirms American children and teens are consuming significantly less sugary drinks November 21, 2019
    According to a new study in the American Journal of Preventive Medicine, published by Elsevier, the share of children and adolescents consuming sugar-sweetened beverages (SSBs) and the calories they consume from SSBs declined significantly between 2003 and 2014.
  • New Alzheimer risk gene discovered November 21, 2019
    A new paper in the Journal of Neuropathology & Experimental Neurology finds a gene that may help explain a large part of the genetic risk for developing Alzheimer disease.
  • New type of e-cigarette vaping injury described in CMAJ November 21, 2019
    A research case report describing lung injury related to e-cigarette use in a 17-year-old Canadian may be the first documented case of a new form of damage from vaping products. The article, published in CMAJ (Canadian Medical Association Journal) provides new evidence on forms of lung injury that can result from vaping.
  • CUHK Faculty of Engineering develops novel imaging approach November 21, 2019
    By combining a compressive sensing algorithm with a digital holographic microscope, Prof. Shih-Chi CHEN of the Department of Mechanical and Automation Engineering, Faculty of Engineering, The Chinese University of Hong Kong (CUHK) and his research team have developed a high-speed imaging method. The new approach is able to produce two-photon microscopy images of a 3D […]
  • Cybershoppers make better buying decisions on PCs than phones -- Ben-Gurion U. researchers November 21, 2019
    This is the first study that differentiates between screen size and information reduction, which are often mixed up. The findings will be presented next month at the International Conference on Information Systems, the top academic conference in the field.
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