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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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  • Descendants of early Europeans and Africans in US carry Native American genetic legacy September 19, 2019
    Many people in the U.S. do not belong to Native American communities but still carry bits of Native American DNA, inherited from European and African ancestors who had children with indigenous individuals during colonization and settlement. In a new study published 19th September in PLOS Genetics, Andrew Conley of the Georgia Institute of Technology and […]
  • IGF1 gene is essential to adult tendon growth, animal study shows September 19, 2019
    Tendon injuries are among the most common injuries seen in athletes at all levels, from weekend warriors to professional basketball players. For those who rupture their tendons, returning to the same level of physical activity they enjoyed before the injury is rare.
  • Researchers create new protocol to improve gene therapy tool production September 19, 2019
    A method to create a faster and lower cost alternative for a gene therapy tool has been developed by Boston University School of Medicine (BUSM) researchers.
  • Genetic variants with possible positive implications for lifestyle September 19, 2019
    A German and British research team lead by Technical University of Munich (TUM) has examined the interplay between genetics, cardiovascular disease and educational attainment in a major population study. Genetic variants which had been linked to educational attainment in other studies were observed in the subjects. The researchers found that these variants also had implications […]
  • Scientists develop new methodology to genetically modify lab mice and human cells September 19, 2019
    A team led by Cedars-Sinai has designed a rapid method to genetically alter laboratory mice and then used this method to produce personalized animal models of pediatric glioma, an aggressive type of malignant brain cancer in children.
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