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Related Concept Videos

Mismatch Repair01:36

Mismatch Repair

Overview
Mutations01:39

Mutations

Overview
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

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Assessing Somatic Hypermutation in Ramos B Cells after Overexpression or Knockdown of Specific Genes
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The 'serious' factor in germline modification.

Erika Kleiderman1, Vardit Ravitsky2, Bartha Maria Knoppers1

  • 1Centre of Genomics and Policy, McGill University, Montreal, Quebec, Canada.

Journal of Medical Ethics
|July 22, 2019
PubMed
Summary
This summary is machine-generated.

Defining

Keywords:
concept of healthethicsgene therapy/transfergenethicsgenetic engineering

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Area of Science:

  • Assisted reproductive technologies
  • Bioethics
  • Human genetics

Background:

  • Current assisted reproductive technologies aim to improve child health.
  • Human germline genome modification (HGGM) may correct genetic diseases.
  • The definition of 'serious' disease for HGGM is vague.

Purpose of the Study:

  • To analyze the concept of 'serious' disease in HGGM.
  • To explore objectivist and constructivist approaches to health and disease.
  • To propose a human rights framework for defining 'serious' diseases.

Main Methods:

  • Conceptual analysis of 'health' and 'disease' definitions.
  • Examination of objectivism and constructivism.
  • Application of a human rights framework (right to science, right to health).

Main Results:

  • The notion of 'serious' disease is subjective and hinders HGGM policy.
  • Objectivism and constructivism offer different perspectives on disease definition.
  • A human rights framework can integrate these perspectives for clearer guidelines.

Conclusions:

  • A human rights framework provides a universal basis for discussing HGGM ethics.
  • Integrating objectivism and constructivism within human rights can clarify 'serious' disease criteria.
  • This approach supports more consistent and ethical decision-making in reproductive technologies.