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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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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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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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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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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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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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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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  • Genomic adaptations to a rice-based diet mitigate the risk of obesity and diabetes September 21, 2020
    The traditional rice-based diet of some east-Asian population has brought a number of genomic adaptations that may contribute to mitigating the spread of diabetes and obesity. An international study led by the University of Bologna and published in the journal Evolutionary Applications has recently suggested this interesting hypothesis. Researchers analyzed and compared the genomes of […]
  • Researchers identify genetic factors associated with hand-foot syndrome in chemotherapy with capecitabine September 21, 2020
    Capecitabine is a chemotherapy drug used for breast and colorectal cancer. It can extend survival rate by nearly 10%. However, recent studies revealed that almost 50% of patients develop palmar-plantar erythrodysesthesia, a skin reaction also called hand-foot syndrome with mild to serious symptoms. Up to 17% of these patients can have a burning pain in […]
  • Gene therapy corrects the cardiac effects of Friedreich's ataxia September 18, 2020
    Gene therapy was successfully used to overcome the cardiac effects of Freidreich's ataxia (FA) in a mouse model of the disease, as reported in the peer-reviewed journal Human Gene Therapy.
  • Algorithms uncover cancers' hidden genetic losses and gains September 17, 2020
    Understanding the specific mutations that contribute to different forms of cancer is critical to improving diagnosis and treatment. But limitations in DNA sequencing technology make it difficult to detect some major mutations often linked to cancer, such as the loss or duplication of parts of chromosomes.
  • Researcher finds keys to control the 'driver of cancer's aggressiveness' September 17, 2020
    'Do not erase.' 'Recycle me.' 'Free to a good home.' Humans post these signs to indicate whether something has value or not, whether it should be disposed of or not. Inside our cells, a sophisticated recycling system uses its own enzymatic signs to flag certain cells for destruction—and a different set of enzymes can remove […]
  • Awareness of COVID-19 in severe dementia patients September 21, 2020
    Tokyo, September 21, 2020- The ongoing coronavirus disease 2019 (COVID-19) pandemic has substantially affected patients with dementia and their caregivers.
  • Cleveland Clinic study finds no link between influenza vaccine and COVID-19 risk September 21, 2020
    Using patient data from Cleveland Clinic's COVID-19 registry, Dr. Joe Zein found that receiving the flu vaccine does not increase risk for COVID-19 or worsen associated disease outcomes, suggesting it is safe and advisable to receive the influenza vaccine this flu season.
  • Bio-based inhibition of gas hydrate formation September 21, 2020
    Copper stearate was used as the basis for this catalyst test and showed efficiency for in-situ oil combustion.
  • Biodiversity hypothesis called into question September 21, 2020
    How can we explain the fact that no single species predominates? A generally accepted hypothesis is that a trade-off exists between organisms able to acquire and consume more food than other when resources are scarce, and organisms which rapidly consume large quantities of food when they are in abundance. However, when scientists from the University […]
  • A faster and more reliable method to categorize olive oil is validated September 21, 2020
    Classifying olive oils into the categories of extra virgin (EVOO), virgin (VOO) and lampante (LOO) is still quite a challenge to deal with since the official method includes physical-chemical and sensory analyses by means of a panel of tasters. These tasters need to be specialized, and on many occasions are not available, in addition to […]
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