A5051215826- Cancer Genomics and Diagnostics
- Gene expression and cancer classification
- Genomics and Rare Diseases
- Statistical Methods in Clinical Trials
- Advanced Proteomics Techniques and Applications
- Molecular Biology Techniques and Applications
- Genomics and Phylogenetic Studies
- Advanced Biosensing Techniques and Applications
- Pharmacogenetics and Drug Metabolism
- Advanced biosensing and bioanalysis techniques
- Metabolomics and Mass Spectrometry Studies
- Genomic variations and chromosomal abnormalities
- Muscle Physiology and Disorders
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- Genetics, Bioinformatics, and Biomedical Research
- Viral Infections and Immunology Research
- Biotechnology and Related Fields
- Biomedical Text Mining and Ontologies
- Cell Adhesion Molecules Research
- Single-cell and spatial transcriptomics
- Adipose Tissue and Metabolism
- AI in cancer detection
- Telomeres, Telomerase, and Senescence
- Biomedical Ethics and Regulation
Center for Devices and Radiological Health
2011-2024
United States Food and Drug Administration
2006-2024
Food and Drug Administration
2009
TiGenix (Spain)
2006
Children's National
2000-2002
National Institute of Arthritis and Musculoskeletal and Skin Diseases
2000
Abstract Juvenile dermatomyositis (JDM), the most common pediatric inflammatory myopathy, is a systemic vasculopathy affecting young children. Epidemiology studies documenting an antecedent illness in 3 mo before first definite symptom (rash and/or weakness) of JDM are supported by immunologic data that suggest disease pathophysiology Ag driven. The purpose this study was to compare gene expression profiles muscle biopsies four untreated DQA1*0501+ children with from known necrotizing...
Protein biomarkers are needed to deepen our understanding of cancer biology and improve ability diagnose, monitor, treat cancers. Important analytical clinical hurdles must be overcome allow the most promising protein biomarker candidates advance into validation studies. Although contemporary proteomics technologies support measurement large numbers proteins in individual specimens, sample throughput remains comparatively low. This problem is amplified typical research studies, which...
On September 21, 2022, the U.S. Food and Drug Administration (FDA) granted accelerated approval to selpercatinib (Retevmo®, Eli Lilly Company) for treatment of adult patients with locally advanced or metastatic solid tumors a rearranged during transfection (RET) gene fusion that have progressed on following prior systemic who no satisfactory alternative options. The was based data from Study LOXO-RET-17001 (LIBRETTO-001; NCT03157128), an international, non-randomized, multi-cohort clinical...
As a part of ongoing efforts the NCI-FDA Interagency Oncology Task Force subcommittee on molecular diagnostics, members Clinical Proteomic Technology Assessment for Cancer program National Institute have submitted 2 protein-based multiplex assay descriptions to Office In Vitro Diagnostic Device Evaluation and Safety, US Food Drug Administration. The objective was evaluate analytical measurement criteria studies needed validate assays. Each submission described different platform:...
Personalized medicine has captured the attention of public, including patients, healthcare providers, scientists, medical product manufacturers and many others. The US FDA will evaluate products that allow personalized to be successfully implemented in USA. This article addresses FDA's approach regulation one component medicine, vitro diagnostic devices. It also describes efforts integrate various regulatory authorities provided by Congress Federal Food, Drug Cosmetic Act develop effective...
Genotyping assays often require substantial amounts of DNA. To overcome the problem limiting available DNA, Whole Genome Amplification (WGA) methods have been developed. The multiple displacement amplification (MDA) method using Φ29 polymerase has become preferred choice due to its high processivity and low error rate. However, uniformity fidelity process across genome not extensively characterized.To assess uniformity, we used array-based comparative genomic hybridization (aCGH) evaluate...
Clinical proteomics presents great promise in biology and medicine because of its potential for improving our understanding diseases at the molecular level detecting disease-related biomarkers diagnosis, prognosis, prediction therapeutic responses. To realize full to improve clinical outcome patients, proteomic studies have be well designed, from biosample cohorts data statistical analyses. One key component biomarker development pipeline is regulatory science that evaluates diagnostic assay...
Abstract Assessing accuracy of NGS variant calling is immensely facilitated by a robust benchmarking strategy and tools to carry it out in standard way. Benchmarking calls requires careful attention definitions performance metrics, sophisticated comparison approaches, stratification type genome context. The Global Alliance for Genomics Health (GA4GH) Team has developed standardized metrics germline small calls. This team includes representatives from sequencing technology developers,...
Complete laminin α2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been reported in these severe, neonatal-onset patients, but only single missense found milder CMD with partial deficiency. Here, we studied nine patients diagnosed who showed abnormal white-matter signal at brain MRI and on immunofluorescence muscle biopsy. We screened the entire 9.5 kb mRNA from patient biopsy by direct capillary automated...
In recent years there has been a dramatic increase in the discovery of information related to genetic risk disease, as well technical ability accurately measure an individual's genotype. These advances underlie promise personalized medicine, which patient's genotype informs medical care they receive. Private companies are attempting capitalize on these by providing direct-to-consumer (DTC)6 testing that estimates disease for customer, given their Because tests make claims about conditions,...
The rapid emergence and clinical translation of novel high-throughput sequencing technologies created a need to clarify the regulatory pathway for evaluation authorization these unique technologies. Recently, US FDA authorized marketing four next generation (NGS)-based diagnostic devices which consisted two heritable disease-specific assays, library preparation reagents NGS platform that are intended human germline targeted from whole blood. These first authorizations can serve as case study...
The US Food and Drug Administration (FDA) encourages the development of new technologies such as microarrays which may improve streamline assessments safety effectiveness medical products for benefit public health. FDA anticipates that these offer potential more effective approaches to treatment disease prevention management. This paper discusses issues associated with translation nucleic acid microarray-based devices from basic research target discovery in vitro clinical diagnostic use,...
This article highlights a current US FDA perspective concerning the use of biomarker-based diagnostics for personalized medicine. Specifically, biomarkers that have application improving benefit/risk profile already approved drugs are discussed. The success in medicine depends on many factors, including proper evaluation usefulness biomarker assessing event interest, and safety effectiveness diagnostic device used to measure biomarker, which includes appropriate analytical clinical...