在儿科和新生儿重症监护病房的精准医学通过基因组学
Phan Q Duy1,2, Benjamin Dylik3, Engin Deniz3,4
1Department of Neuroscience.
Current opinion in pediatrics
|April 29, 2025
概括
基因组测序可以快速诊断重症监护中的儿科疾病,指导治疗并揭示疾病原因. 这项技术有望为儿童遗传疾病提供未来的基因疗法.
科学领域:
- 基因组学就是基因组学.
- 儿科医学 儿科医学
- 精准医学是一门精准的医学.
背景情况:
- 全基因组测序改变了对人类疾病的理解.
- 基因组技术对于推进儿科护理至关重要,特别是在重症监护机构.
研究的目的:
- 讨论基因组技术在改善儿科和新生儿重症监护病房儿童护理方面的实用性.
主要方法:
- 审查当前的基因组技术及其在儿科重症监护中的应用.
主要成果:
- 通过基因组医学进行快速分子诊断,提供可操作的发现,影响临床决策和干预措施.
- 遗传关联揭示了疾病生物学和传统诊断错过的异质性.
- 新兴的基因疗法有可能纠正儿童条件下的潜在遗传缺陷.
结论:
- 预计全基因组测序,结合其他OMIC技术,将成为诊断重症儿童的必要条件.
更多相关视频
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
11.7K
09:31Hemodynamic Precision in the Neonatal Intensive Care Unit using Targeted Neonatal Echocardiography
Published on: January 27, 2023
817
相关概念视频
Genomics
35.3K
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...
35.3K
Issues And Trends In Healthcare Delivery System
5.5K
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...
5.5K
Animal Mitochondrial Genetics
7.4K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.4K
Next-generation Sequencing
86.1K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
86.1K
Combination Therapies and Personalized Medicine
4.8K
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...
4.8K
