New Advancements and Challenges in Clinical Metabolomics for Inborn Errors of Metabolism and Rare Diseases
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Endocrinology and Clinical Metabolic Research".
Deadline for manuscript submissions: 31 October 2024 | Viewed by 3574
Special Issue Editors
Interests: metabolomics; rare diseases; multiomics for rare genetic disorders; diagnostics; mechanisms of action for therapeutic interventions; biochemical diagnostics; validation of diagnostic assays; clinical studies for diagnostic assay validation and therapeutic interventions
Special Issue Information
Dear Colleagues,
Rare diseases and inborn errors of metabolism provide a significant medical challenge and often result in patients experiencing a long diagnostic odyssey prior to receiving a conclusive diagnosis. Many patients receive multiple incorrect diagnoses, and the development of new diagnostics and research tools are providing an avenue to identify biomarker signatures earlier and with significant accuracy. One of the major complications for diagnosing patients is that over 7,000 rare diseases are estimated to exist. However, many of these newer technologies can be leveraged together in order to provide conclusive diagnoses for patients, resulting in patients being treated earlier. Rare disease screening is becoming more popular throughout the world, and the screening of children and newborns will have an opportunity to add more diseases to these newborn screening panels as technologies increase the number of biomarkers that are identified, either through genomics, enzymatic assays, proteomic biomarkers, or metabolomics. Strong validation protocols, quality controls procedures, and rigorous biomarker identification are needed to identify the best tools to identify patients as soon as possible, and with the greatest sensitivity and specificity possible. By identifying these patients, clinicians can then begin therapeutic interventions, where these same above-mentioned technologies could play a significant role in helping monitor these therapeutic interventions (nutritional and medicinal) to determine if patients are responding to their treatment. By identifying more biomarkers and mechanisms of disease, clinical research will be able to develop more therapeutic interventions for the thousands of rare diseases that exist, of which only 5-10% have approved therapies to date. Identifying biomarkers of disease, delineating mechanisms of disease, developing new therapeutic interventions, and monitoring these therapies are all needed to treat patients that have a rare disease or inborn error of metabolism.
The Special Issue of Metabolites entitled “New Challenges in Clinical Metabolomics for Inborn Errors of Metabolism and Rare Diseases” will be dedicated to identifying and addressing the most current challenges in the field of diagnosing and treating rare diseases. In addition to clinical studies, basic research including animal models and cell culture studies will also be included to provide a robust picture of the latest results in the field. New bioinformatics approaches for data analysis and tools to analyze large data sets are of interest and will be considered for this Special Issue.
Dr. Adam D. Kennedy
Prof. Dr. Sarah H. Elsea
Guest Editors
Manuscript Submission Information
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Keywords
- metabolic diseases
- rare diseases
- clinical metabolomics
- genomics
- inborn errors of metabolism
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