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Huntington Disease l: Introduction

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Huntington's disease research roster data base support with MEGADATS-3M.

J M Gersting, P M Conneally, E A Yount

Journal of Medical Systems

|June 1, 1984

Summary

The MEGADATS-3M system facilitates the collection, storage, and visualization of human family pedigree data. This medical genetics database supports research, including the Huntington

Area of Science:

Medical Genetics
Bioinformatics
Data Management

Background:

Collecting and managing human family pedigree data is crucial for genetic research.
Existing systems may lack efficiency in data handling and visualization.
The need for a robust system to support large-scale genetic studies, such as those for Huntington's disease, is evident.

Purpose of the Study:

To describe the development and features of the MEGADATS (MEdical Genetics Acquisition and DAta Transfer System) database.
To highlight the capabilities of the latest version, MEGADATS-3M, including its microcomputer implementation.
To demonstrate the system's application in supporting critical research projects like the Huntington's disease research roster.

Main Methods:

Development of a comprehensive database system for medical genetics data.

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Implementation of data collection, storage, retrieval, and plotting functionalities.

Focus on the MEGADATS-3M microcomputer version and its specific applications.

Main Results:

Successful development of the MEGADATS-3M system for managing human family pedigrees.
Demonstration of data input and pedigree plotting capabilities.
Successful integration of MEGADATS-3M into the Huntington's disease research roster project.

Conclusions:

MEGADATS-3M provides an effective solution for collecting, storing, retrieving, and visualizing human family pedigree data.
The system's microcomputer version enhances accessibility and usability for genetic research.
MEGADATS-3M is a valuable tool for supporting genetic disease research initiatives.