the glocalized network in theragenomic and personalized medicine and the genetics of individual patients safety of drugs
March 10, 2025 – Does a gene variant shield against the COPA syndrome, a devastating inherited disease? The COPA syndrome is a recently described autosomal dominant inborn error of immunity characterized by high titer autoantibodies and interstitial lung disease, with many …
Does the gene variant HAQ-STING shield against the COPA syndrome? Read more »
April 14, 2024 – There have recently been several media publications along the lines like “Mom with ‘one-of-a-kind’ disease that causes tumors to grow over whole body terrified of dying alone” referring to a female patients out from the Jamaicas suffering …
Neurofibromatosis (NF-1): Terrifying tumour growth over the whole body Read more »
February 10, 2024 – Noma is a disease that many people prefer to ignore. The sight of the affected small children is unbearable. There are open wounds on the face. Entire cheek areas appear as if eaten away. Children who …
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 »