the glocalized network in theragenomic and personalized medicine and the genetics of individual patients safety of drugs
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 »
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 …