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Related Concept Videos

Genomics02:02

Genomics

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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...
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Tumor Progression02:07

Tumor Progression

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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Microorganisms in Medicine and Therapeutics01:29

Microorganisms in Medicine and Therapeutics

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Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
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Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes02:16

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Genomic Medicine-Progress, Pitfalls, and Promise.

Jay Shendure1, Gregory M Findlay2, Matthew W Snyder2

  • 1Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.

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Summary

Genomic medicine holds promise for transforming healthcare, but its impact is unfolding differently and on a longer timescale than initially expected. A deeper understanding of genotype-to-phenotype relationships is crucial for realizing its full potential.

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Area of Science:

  • Genomic Medicine
  • Human Genetics
  • Medical Research

Background:

  • The Human Genome Project (HGP) spurred high expectations for genomics revolutionizing disease diagnosis, treatment, and prevention.
  • Genomic medicine, a nascent field, is evaluated for its progress and challenges in meeting these expectations.

Purpose of the Study:

  • To assess the current impact and future trajectory of genomic medicine.
  • To identify areas where genomics is succeeding and where it is falling short.
  • To explore unanticipated developments in the field.

Main Methods:

  • This perspective synthesizes current understanding and expert opinion on the progress of genomic medicine.
  • It involves a critical evaluation of the successes, limitations, and future directions of applying genomic insights to clinical practice.

Main Results:

  • Genomics is delivering on its promise in specific areas, but the transformation of medicine is more complex and lengthy than originally projected.
  • Unanticipated developments have emerged, necessitating a re-evaluation of the path forward.
  • The field faces challenges in fully translating genomic data into actionable clinical insights.

Conclusions:

  • The initial optimism for genomic medicine's transformative potential is still warranted, though the timeline and form of its impact are evolving.
  • A foundational understanding of the complete genotype-to-phenotype relationship is essential for unlocking the full benefits of human genomics.
  • A "back to basics" approach focusing on fundamental biological understanding is recommended for advancing genomic medicine.