Video Experimental Relacionado
Updated: May 28, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
La genómica llega a la clínica: desde descubrimientos básicos hasta el impacto clínico
1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Cell
|October 4, 2011
Resumen
La investigación científica básica es clave para comprender la base genética de las enfermedades humanas. La colaboración entre expertos de laboratorio, computacionales y clínicos es vital para traducir los descubrimientos genómicos en una mejor salud humana.
Área de la Ciencia:
- La genómica y la investigación de enfermedades humanas.
Sus antecedentes:
- La investigación científica básica ofrece oportunidades significativas para comprender los fundamentos genéticos de las enfermedades humanas.
- Los avances en genómica son críticos para el progreso médico.
Objetivo del estudio:
- Para resaltar la importancia de la colaboración interdisciplinaria en la traducción de los descubrimientos genómicos en la mejora de la salud humana.
- Para enfatizar el papel de la ciencia básica en el avance de la comprensión médica.
Principales métodos:
- Este estudio hace hincapié en la necesidad de la integración de los enfoques de investigación de laboratorio, computacional y clínica.
Principales resultados:
- Los descubrimientos genómicos tienen un inmenso potencial para el avance de la ciencia médica.
- Las interacciones entre las diversas comunidades de investigación son esenciales para realizar este potencial.
Conclusiones:
- La estrecha colaboración entre los investigadores de laboratorio, computacionales y clínicos es crucial.
- La traducción efectiva de los descubrimientos genómicos en última instancia mejorará la salud humana.
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...
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...
01:29Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
01:29Issues And Trends In Healthcare Delivery System
The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
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...
01:11Clinical Trials: Overview
Clinical development focuses on how the drug will interact with the human body and encompasses four key phases of clinical trials, each serving a specific purpose in assessing the safety and effectiveness of new drugs. These phases overlap and build upon one another. Phase I involves a small group of healthy volunteers (typically 20-80 individuals) or, in cases where significant toxicity is expected, patients with the targeted disease, such as cancer or AIDS. The volunteers are tested for...