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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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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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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...
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Next-generation Sequencing03:00

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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....
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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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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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Related Experiment Video

Updated: Feb 24, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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[Rare diseases in post-genomic era.]

Simonetta Pulciani1, Andrea Vittozzi1, Stefano Diemoz1

  • 1Centro Nazionale Malattie Rare.

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|August 29, 2017
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Summary

Personalized medicine, or 4P medicine, uses genetic insights for tailored treatments. Active patient participation is crucial for developing personalized health strategies, especially in rare diseases.

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Area of Science:

  • Genomics and Bioinformatics
  • Personalized Medicine
  • Rare Disease Management

Background:

  • The Human Genome Project and -omics technologies enable personalized medical interventions.
  • 4P medicine (predictive, preventive, personalized, participatory) aims to improve wellbeing.
  • Cystic fibrosis management with Kalydeco demonstrates success in rare diseases.

Purpose of the Study:

  • To highlight the importance of patient participation in achieving 4P medicine goals.
  • To emphasize the role of molecular profiling in personalized healthcare.
  • To underscore the need for considering psychological factors in rare disease treatment.

Main Methods:

  • Leveraging genetic maps and biosynthetic pathways for targeted therapies.
  • Utilizing patient involvement to gather essential health status data.
  • Analyzing psychological experiences and characteristics of patients and families.

Main Results:

  • Kalydeco's success in cystic fibrosis exemplifies the efficacy of personalized strategies.
  • Active patient participation is indispensable for defining patient-specific molecular profiles.
  • Molecular profiles facilitate the planning of preventive and therapeutic interventions.

Conclusions:

  • Patient involvement is fundamental for the successful implementation of 4P medicine.
  • Integrating psychological aspects, vulnerability, and resilience is critical for rare disease care.
  • A collaborative approach involving patients, families, researchers, and healthcare professionals is essential for effective therapeutic planning.