| Abstrakt: |
New research from Hannover Medical School in Germany discusses the advancements in genetic diagnostics for rare diseases, specifically inborn errors of immunity (IEI). The review highlights the use of various diagnostic approaches, such as gene sequencing and proteomics, in identifying causative genetic variants. These technologies have not only improved accurate diagnosis but also provided insights into the underlying molecular mechanisms. The integration of genetic diagnostics into clinical practice has significant impacts on patient care, enabling early diagnosis, personalized treatment strategies, and the development of targeted therapies. However, challenges remain in interpreting genetic variants and establishing comprehensive guidelines. Further research, data integration, and collaboration between experts are necessary to maximize the potential of genetic diagnostics in rare diseases. [Extracted from the article] |
