the glocalized network in theragenomic and personalized medicine and the genetics of individual patients safety of drugs
29. October 2022 – A first clinical guideline on Schaaf-Yang syndrome for professionals and families has been created. Improving knowledge of Schaaf-Yang syndrome (SYS), an ultra-rare disease caused by mutations in the MAGEL2 gene, is the aim of this first clinical …
The extremely rare Schaaf-Yang Syndrome and the MAGEL2 gene Read more »
September 16, 2022 – Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia …
Gene therapy: Hope for patients with beta-thalassemia? Read more »
29 July 2022 – This is a mind-boggling article out of the MedicalXpress news portal, which I present here almost original and unedided. So, all the credentials go to the authors at MedicalXpress. Here the article: The Rady Children’s Institute for …
Is there rapid management of 500 (rare) genetic diseases? Read more »
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 …
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), …
Caplacizumab-yhdp (Cablivi): the first therapy for the treatment of aTTP Read more »
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 …
Migalastat (Galafold): New treatment for Fabry disease Read more »
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; …
Is there breast implant-associated cancer (BIA-ALCL)? Read more »
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 …
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 …
First ever treatment for Lambert-Eaton myasthenic syndrome (LEMS) FDA approved Read more »
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 …
Epidiolex: Marijuana-derived drug to treat rare forms of epilepsy Read more »