Video Experimental Relacionado
Updated: May 11, 2026
06:41
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
El perfil de los ómicos personales revela fenotipos moleculares y médicos dinámicos
Rui Chen1, George I Mias, Jennifer Li-Pook-Than
1Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Cell
|March 20, 2012
Resumen
Este estudio introduce un perfil omics personal integrador (iPOP), que combina varios tipos de datos a lo largo del tiempo. iPOP revela cambios moleculares dinámicos y riesgos médicos, conectando la genómica con los estados generales de salud.
Área de la Ciencia:
- Multi-omics es el nombre que se le da a los multi-omics.
- Biología de sistemas Biología de sistemas.
- La medicina personalizada es una medicina personalizada.
Sus antecedentes:
- La medicina personalizada integra los datos genómicos con el monitoreo fisiológico.
- Los métodos de alto rendimiento permiten un perfil molecular completo.
- El análisis longitudinal es crucial para comprender los cambios dinámicos en la salud.
Objetivo del estudio:
- Para presentar un perfil omics personal integrador (iPOP) para un solo individuo.
- Para analizar los datos multi-omics longitudinalmente durante 14 meses.
- Para conectar la información genómica con cambios dinámicos moleculares y fisiológicos.
Principales métodos:
- Recopilación de datos genómicos, transcriptómicos, proteómicos, metabólicos y de autoanticuerpos.
- Realizó un análisis integrador de diversos perfiles de omics.
- Analizó datos de un solo individuo durante un período de 14 meses.
Principales resultados:
- iPOP reveló riesgos médicos, incluida la diabetes tipo 2.
- Se observaron cambios extensivos, dinámicos moleculares y de vías en la salud y la enfermedad.
- La genómica de alta cobertura identificó cambios heteroalélicos y edición de ARN.
Conclusiones:
- El iPOP longitudinal proporciona una visión integral de la salud individual.
- iPOP conecta la información genómica estática con la actividad biológica dinámica.
- Este enfoque ayuda a interpretar los estados sanos y enfermos.
Más Videos Relacionados
Videos de Conceptos Relacionados
02:02Genomics
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
02:50Combination Therapies and Personalized Medicine
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.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
01:33Proteomics
A proteome is the entire set of proteins that a cell type produces. We can study proteomes using the knowledge of genomes because genes code for mRNAs, and the mRNAs encode proteins. Although mRNA analysis is a step in the right direction, not all mRNAs are translated into proteins.
Proteomics is the study of proteomes' function. It involves the large-scale systematic study of the proteome to denote the protein complement expressed by a genome. Scientist Mark Wilkins coined the term proteomics...
Proteomics is the study of proteomes' function. It involves the large-scale systematic study of the proteome to denote the protein complement expressed by a genome. Scientist Mark Wilkins coined the term proteomics...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:29Pharmacogenomics: Identification of New Drug Targets
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...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...