Publications by authors named "Przemyslaw Panek"
[Genetic and molecular backgrounds of the development of glioblastoma].
Postepy Biochem
January 2024
Article Synopsis
- Stage IV glioblastoma is the most common and aggressive brain tumor, leading to a poor prognosis with typical survival of only a few months despite treatments like surgery, radiation, and chemotherapy.
- The development of this tumor is linked to various genetic mutations, including those in key protein genes and loss of heterozygosity on certain chromosomes, though some mutations can enhance patient survival.
- Current treatment strategies include alternating electric field therapy and new immunotherapy options, as glioblastoma cells often resist traditional anticancer drugs.
Article Synopsis
- Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
- To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
- The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
Article Synopsis
- The significant phenotypic variability of human faces complicates the work of dysmorphologists by challenging Next-Generation Phenotyping (NGP) tools, especially when analyzing patients from diverse genetic backgrounds.
- The research established the GestaltMatcher Database (GMDB), which includes over 10,000 facial images from patients with rare genetic disorders worldwide, striving to improve representation of underrepresented populations, particularly Asian and African patients.
- The analysis showed that incorporating data from non-European patients enhanced the accuracy of NGP in diagnosing facial disorders without negatively affecting performance on European patients, emphasizing the need for more diverse datasets in medical genetics.