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Related Concept Videos

Genomics02:02

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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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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.
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Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Related Experiment Video

Updated: Nov 22, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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The case for open science: rare diseases.

Yaffa R Rubinstein1, Peter N Robinson2, William A Gahl3

  • 1Special Volunteer in the Office of Strategic Initiatives, National Library of Medicine, Bethesda, Maryland, USA.

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|January 11, 2021
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Summary
This summary is machine-generated.

Open Science accelerates research and medical progress by openly sharing data and knowledge. This approach is crucial for the rare disease (RD) community, improving diagnosis and treatment by overcoming data limitations.

Keywords:
FAIR datacommon data elementsdata standardsontologyopen sciencerare disease patients

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Area of Science:

  • Medical research
  • Open Science principles
  • Rare disease (RD) community

Background:

  • Rare disease research faces challenges including limited patient data, scarce resources, and few experts.
  • These limitations cause significant delays in diagnosis and treatment for rare disease patients.
  • Open Science offers a framework to address these challenges through data and knowledge sharing.

Purpose of the Study:

  • To describe how the rare disease community has embraced Open Science.
  • To highlight new initiatives promoting rare disease research and care.
  • To provide recommendations for advancing Open Science globally.

Main Methods:

  • Review of Open Science adoption within the rare disease community.
  • Identification of specific initiatives and practices implemented.
  • Analysis of the impact on rare disease research and patient care.

Main Results:

  • The rare disease community actively applies Open Science principles.
  • New initiatives have been developed to enhance research and patient care.
  • Open Science adoption has the potential to accelerate medical progress beyond rare diseases.

Conclusions:

  • Open Science is vital for advancing rare disease research and improving patient outcomes.
  • The rare disease community's experience offers a model for broader Open Science implementation.
  • Continued global advancement of Open Science is recommended for the benefit of all medicine.