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Related Concept Videos

Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
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Therapeutic Drug Monitoring (TDM) is a clinical practice that measures specific drug levels in a patient's blood at designated intervals to ensure the drug concentration stays within a therapeutic range. This monitoring is crucial for optimizing individual dosage regimens, enhancing therapeutic efficacy, and minimizing drug-related toxicity. TDM is vital for drugs with narrow therapeutic windows, significant variability in pharmacokinetics, and a clear correlation between plasma levels and...
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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Building a Knowledge Base for Variant Annotation Using Therapy Recommendations in cBioPortal.

Dominik Boehm1,2, Niklas Reimer3,4, Jan Christoph5

  • 1Medical Center for Information and Communication Technology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Studies in Health Technology and Informatics
|May 17, 2025
PubMed
Summary

Molecular tumor boards face challenges with data collection, hindering personalized therapy discussions. A new digital tool integrated with MTB-cBioPortal streamlines access to historical therapy recommendations and outcomes, improving efficiency.

Keywords:
Genomic AlterationMolecular Tumor BoardOncologyPatient SimilarityPersonalized MedicineTherapy RecommendationcBioPortal

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Area of Science:

  • Oncology
  • Medical Informatics
  • Genomics

Background:

  • Molecular tumor boards (MTBs) require extensive data collection for case preparation, a time-consuming process.
  • This data bottleneck limits the number of cases discussed, potentially delaying personalized therapy for patients.
  • Digital support is crucial for efficiently managing patient genomic and clinical data.

Purpose of the Study:

  • To develop a digital solution to streamline case preparation for molecular tumor boards.
  • To improve the efficiency of accessing historical therapy recommendations and follow-up data for similar molecular profiles.
  • To lay the groundwork for multicentric data exchange of therapeutic strategies and outcomes.

Main Methods:

  • Developed an extension for the MTB-cBioPortal in collaboration with clinicians.
  • Integrated HL7 FHIR profiles and modules from the Medical Informatics Initiative (MII).
  • Displayed historical therapy recommendations and follow-up data as annotations within the MTB-cBioPortal patient view.

Main Results:

  • The developed extension provides efficient access to relevant historical patient data within the MTB-cBioPortal.
  • Users can now view previously documented therapy recommendations linked to molecularly similar tumors.
  • The tool facilitates improved case preparation efficiency for molecular tumor boards.

Conclusions:

  • The MTB-cBioPortal extension enhances the efficiency of case preparation for molecular tumor boards.
  • This digital support system aids in leveraging comprehensive patient data for personalized medicine.
  • The developed framework supports future multicentric collaboration and data sharing for oncology treatment strategies.