Publications by authors named "D M Krotoski"
Article Synopsis
- Primary mitochondrial diseases (PMDs), particularly Leigh syndrome spectrum (LSS), present diagnostic challenges due to their complex genetic origins involving over 100 potential monogenic causes.
- A team of 40 international experts standardized gene curation for LSS over four years, refining definitions and developing a scoring system to assess gene-disease relationships.
- The final analysis classified 31 of 114 gene-disease relationships as definitive, thus aiding in accurate diagnoses, precision medicine, and various clinical applications for patients with LSS.
Article Synopsis
- The North American Mitochondrial Disease Consortium (NAMDC) is a network of 17 clinical centers focused on advancing research and treatment for mitochondrial diseases, supported by the National Institutes of Health through the Rare Disease Clinical Research Network.
- NAMDC operates a Clinical Registry and a biorepository that gathers essential clinical data, biosamples, and natural history information about mitochondrial diseases while ensuring data security and compliance with regulations.
- To promote research and development in mitochondrial medicine, NAMDC offers pilot grants for innovative projects and has a Fellowship Program to train aspiring researchers in the field.
Objective: To describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mitochondrial Disease Consortium (NAMDC) Registry.
Methods: This cross-sectional, multicenter, retrospective database analysis evaluates the phenotypic and molecular characteristics of participants enrolled in the NAMDC Registry from September 2011 to December 2018. The NAMDC is a network of 17 centers with expertise in MtDs and includes both adult and pediatric specialists.
In December 2014, a workshop entitled "Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base" was convened at the NIH with the goals of exploring the use of nutritional interventions in primary mitochondrial disorders (PMD) and identifying knowledge gaps regarding their safety and efficacy; identifying research opportunities; and forging collaborations among researchers, clinicians, patient advocacy groups, and federal partners. Sponsors included the NIH, the Wellcome Trust, and the United Mitochondrial Diseases Foundation. Dietary supplements have historically been used in the management of PMD due to their potential benefits and perceived low risk, even though little evidence exists regarding their effectiveness.
View Article and Find Full Text PDFThe beneficial effects of physical activity (PA) are well documented, yet the mechanisms by which PA prevents disease and improves health outcomes are poorly understood. To identify major gaps in knowledge and potential strategies for catalyzing progress in the field, the NIH convened a workshop in late October 2014 entitled "Understanding the Cellular and Molecular Mechanisms of Physical Activity-Induced Health Benefits." Presentations and discussions emphasized the challenges imposed by the integrative and intermittent nature of PA, the tremendous discovery potential of applying "-omics" technologies to understand interorgan crosstalk and biological networking systems during PA, and the need to establish an infrastructure of clinical trial sites with sufficient expertise to incorporate mechanistic outcome measures into adequately sized human PA trials.
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