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Related Concept Videos

Case Studies01:22

Case Studies

There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.
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Mouse Models of Cancer Study

Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
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Related Experiment Video

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

[Using rare disease as a research model].

Matthijs J V Scheltema1, Maarten R Soeters, Gabor E Linthorst

  • 1Academisch Medisch Centrum, afd. Endocrinologie en metabolisme, Amsterdam, the Netherlands.

Nederlands Tijdschrift Voor Geneeskunde
|April 26, 2012
PubMed
Summary
This summary is machine-generated.

Rare diseases, affecting 1 in 20 people, offer valuable insights into human physiology and pathophysiology. Studying them can unlock treatments for common diseases, necessitating greater collaboration among researchers and patient groups.

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Area of Science:

  • Medical Research
  • Genetics
  • Pathophysiology

Context:

  • Rare diseases defined as <5:10,000 prevalence in Europe, with 6000-7000 known conditions.
  • Significant portion of the population affected (1 in 20 individuals).
  • Limited research interest due to small patient populations and perceived lower financial returns.

Purpose:

  • Advocate for a paradigm shift in rare disease research.
  • Propose utilizing rare diseases as models for human physiology and pathophysiology.
  • Highlight the potential application of rare disease research findings to common diseases.

Summary:

  • Research into rare diseases can illuminate fundamental pathophysiologic processes.
  • Insights gained can be extrapolated to understand and treat more prevalent conditions.
  • Emphasizes the translational potential of rare disease studies.

Impact:

  • Enhance understanding of human physiology and disease mechanisms.
  • Facilitate the development of novel therapeutic strategies for both rare and common diseases.
  • Calls for improved collaboration between patients, academic institutions, and the pharmaceutical industry to accelerate research.