the glocalized network in theragenomic and personalized medicine and the genetics of individual patients safety of drugs
05 December 2023 – PDD, meaning persistent depressive disorder (dysthymia) may be underlaying this indifferently lingering “Meh” feeling we all may have or are living through at times. “Meh” is a colloquial interjection used as an expression of indifference or boredom. It is …
PDD: Are we all suffering from it? In one way or the other? Read more »
November 27, 2022 – About 3.5–5.9% of the world population are affected by a rare diseases. For Africa alone, this winds up to around 50 million possibly affected people, representing a large community of individuals and families in need of diagnostics …
Including Africa in the research on rare genetic diseases: A must! Read more »
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 »
August 13, 2022 – Breast cancer: Is BIA-ALCL increasing in women in the US? Over the last couple of years, the recognition of an seemingly increased rate of incidence of Anaplastic Large-Cell Lymphoma (ALCL) in woman who received breast implants …
Breast cancer: Is BIA-ALCL increasing in women in the US? 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 »
April 12, 2020 – The human genetic disease neurofibromatosis type 1 (NF-1) is a complex multi-system disorder caused by the mutation of a gene (NF1 gene) on chromosome 17 that is responsible for production of a protein called neurofibromin which is …
First therapy for children with debilitating NF-1 approved in the USA Read more »
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 »
January 08, 2019 – The interpretation of genetic variants after genome-wide analysis is complex in a selection of heterogeneous disorders which are at the base of a condition termed intellectual disability (ID). Generally, the cause of intellectual disability (ID) is unknown …
You cannot hide it: Your face tells all about your ID Read more »