A groundbreaking study in Germany has shown that advanced genetic testing can identify the causes of many rare diseases.
This research, published in Nature Genetics, involved analyzing genetic data from 1,577 patients, revealing that many of these diseases have a genetic origin.
The study used a technique called exome sequencing (ES), which examines parts of DNA that code for proteins. This approach helped diagnose 499 patients, including the discovery of 34 previously unknown genetic diseases.
The study was part of a three-year project called TRANSLATE NAMSE, aiming to improve the care of rare disease patients through modern diagnostics.
Researchers from 16 university hospitals participated, examining the ES data of patients, most of whom were children. They identified genetic causes in 499 patients and discovered changes in 370 different genes.
Dr. Theresa Brunet from the Technical University of Munich highlighted the importance of these discoveries, emphasizing how they enhance knowledge and patient care.
For cases where no diagnosis was found, further genetic testing, such as long-read sequencing, is planned. This method analyzes longer DNA fragments, potentially revealing genetic changes that were previously undetectable.
Dr. Tobias Haack from the University Hospital of Tübingen explained that this continued effort, known as the MVGenomSeq project, builds on the TRANSLATE NAMSE success. It aims to provide comprehensive genetic analysis across Germany, offering hope for patients with unsolved cases.
One of the study’s notable aspects was the use of artificial intelligence (AI) to aid in diagnosis. The “GestaltMatcher” AI system, developed in Bonn, can analyze facial features to identify genetic syndromes.
This tool was tested on a large scale and proved beneficial. By examining facial images of 224 participants, the AI helped match physical features with specific genetic diseases.
Prof. Peter Krawitz from the University Hospital Bonn highlighted the AI’s potential, describing it as an expert opinion available within seconds. This technology could be especially useful for pediatricians during early screenings, aiding in the early detection of rare diseases.
The TRANSLATE NAMSE project also established standardized procedures for genetic diagnostics at rare disease centers. These procedures involve interdisciplinary case conferences, ensuring comprehensive clinical evaluations.
Dr. Magdalena Danyel emphasized the importance of these conferences for understanding genetic data and discussing detected genetic variants.
In conclusion, this study marks a significant advancement in diagnosing rare diseases. By combining genetic testing with AI tools, researchers have opened new possibilities for early and accurate diagnoses.
These innovations not only enhance patient care but also pave the way for further research and better understanding of genetic diseases.
If you care about cancer, please read studies about vitamin D and bowel cancer, and a cautionary note about peanuts and cancer.
For more health information, please see recent studies about the link between ultra-processed foods and cancer, and everyday foods to ward off pancreatic cancer.
The research findings can be found in Nature Genetics.
Copyright © 2024 Knowridge Science Report. All rights reserved.
