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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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  • Protein AKAP8 suppresses breast cancer metastasis January 27, 2020
    A protein naturally produced in the body has been found to suppress breast cancer metastasis in animal models of human tumors. Researchers led by Baylor College of Medicine also found that high levels of this protein, AKAP8, predicts a better survival for breast cancer patients.
  • The virome of HPV-positive tonsil squamous cell carcinoma and neck metastasis January 27, 2020
    The cover for issue 3 of Oncotarget features Figure 3, "Hierarchical clustering of tonsil squamous cell carcinoma cohorts based on viral signature detection pattern with associated pathological features (perineural invasion (PNI), lymphovascular invasion (LVI), and tumor stage (T stage))," by Carey, et al.
  • Asfotase alfa in hypophosphatasia in childhood/adolescence: Survival benefit for infants January 27, 2020
    Hypophosphatasia (HPP) is a rare congenital metabolic disorder. The frequency of severe courses of disease is estimated at 1:100 000: A deficiency of the enzyme phosphatase results in insufficient mineralization of the bones and thus in severe skeletal malformations. The course of disease varies greatly—the earlier the onset of the disease, the more severe are […]
  • Unrecognized genetic variation in research mouse models can affect immune cells January 27, 2020
    Congenic mouse strains—used for decades in immunology research and assumed to be genetically identical outside of a marker locus—have been found to contain previously unrecognized genetic variation, University of Alabama at Birmingham researchers reported in a study published in the journal Immunity.
  • Genomics experts dispute nine genes linked to congenital heart condition January 27, 2020
    Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource's (ClinGen) expert panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be […]
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