A multiomic approach gives us a more complete picture of the underlying biology, from gene to protein, causing the symptoms of any particular rare disease. It also enables us to diagnose rare diseases quickly and with the highest accuracy possible, saving time, resources, and sparing patients pivotal years during which a disease can rapidly progress. A quick definitive diagnosis can direct physicians to the treatments of today and the precision medicine of tomorrow.
Phenomics is a complete characterization of clinical symptoms, such as morphological differences, developmental patterns, and behavioral attributes, associated with a particular gene defect. By gaining a deeper understanding of the genotype-phenotype dynamics, we are able to deliver improved diagnostic rates, as well as advance research and precision medicine.
Genomics looks at the information that is encoded in the DNA. By observing how genes interact amongst each other, we can detect genetic variants related to the disease, provide patient prognosis, and evaluate response to treatment. Genomics is the most mature omics filed.
Transcriptomics focuses on the RNA, the genetic code that acts as a copy or transcript of the DNA. By analyzing the transcriptome, we are able to see the mirrored “instructions“ that have been encoded in the DNA, such as when and where a gene is functioning.
Proteomics investigates protein expression amounts, alterations, and interactions. By examining the protein content of a cell, we are able to identify proteins involved in pathological processes and to better understand how diseases can lead to altered protein expression.
Metabolomics examines thousands of small metabolites, which are chemical substances that the metabolism produces. Metabolites include fatty molecules, amino acids, carbohydrates, and other products of cellular metabolic functions. By analysis the metabolites, we can evaluate conditions which may not be assessed on genome, transcriptome, and proteome level. For example, the dynamic development of disease as well as different manifestations.
CentoMetabolic® – Accelerating the Path From Diagnosis to Treatment
Our integrated multiomic panel for IMDs is one of the world’s first multiomic analyses for metabolic diseases – testing for a range of genes via panel technology, followed by biochemical testing. This includes enzyme assays as well as a selection of proprietary biomarkers.
Our speakers, Maximilian Schmid M.D., Chief Commercial Officer – Diagnostics, and Prof. Peter Bauer M.D., Chief Genomic Officer, will highlight the power of multiomics in establishing a complete clinical picture and accelerating personalized treatment options.
Don’t miss out on seeing our integrated multiomic panel for inherited metabolic disorders (IMDs) in action via the latest case studies!
"Currently it takes an average of seven years to pinpoint a diagnosis for one of the over 7,000 different rare diseases. Together, we can help rewrite that story."