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

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Published on: August 20, 2019

Rare Genetic Diseases: Nature's Experiments on Human Development.

Chelsea E Lee¹, Kaela S Singleton¹, Melissa Wallin¹

¹Department of Cell Biology, Emory University, Atlanta, GA 30322, USA.

|May 19, 2020

Summary

Studying rare genetic diseases offers insights into fundamental human development and common illnesses. Their disproportionate effect on the nervous system in children is linked to complex protein networks.

Keywords:

Clinical Genetics Human Genetics

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Area of Science:

Genetics
Systems Biology
Developmental Biology

Background:

Rare genetic diseases represent a natural forward genetic screen in humans.
An expanding catalog of ~4,000 genes causes ~6,500 rare diseases with annotated phenotypes.
These diseases provide a landscape for discovering fundamental biological mechanisms.

Purpose of the Study:

To highlight the importance of studying rare genetic diseases using epistemological and systems biology arguments.
To propose a hypothesis for the biased prevalence of nervous system rare diseases in children.
To illustrate the discovery potential of rare diseases with a specific example.

Main Methods:

Review and synthesis of existing knowledge on rare genetic diseases.
Application of systems biology principles to understand disease gene networks.
Case study analysis using Menkes disease.

Main Results:

Rare genetic diseases offer a rich resource for understanding human development and common diseases.
Despite ubiquitous expression, genes causing rare childhood diseases disproportionately affect the nervous system.
The topological complexity of protein interaction networks is proposed as the cause of this bias.

Conclusions:

Studying rare genetic diseases is crucial for uncovering fundamental biological mechanisms.
The complexity of protein interaction networks in ubiquitous, ancient genes may explain nervous system vulnerability in childhood rare diseases.
Rare diseases, exemplified by Menkes disease, are powerful models for scientific discovery.