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The frequency of inherited disorders database: prevalence of Huntington disease

L N Al-Jader1, P S Harper, M Krawczak

  • 1Department of Epidemiology and Public Health, University of Wales College of Medicine, Cardiff, UK. Al-JaderLA@cardiff.ac.uk

Community Genetics
|February 13, 2004
PubMed

Insights

A new database, the Frequency of Inherited Disorders Database (FIDD), catalogs human inherited disorders, including Mendelian disorders, to aid clinical practice and research. It details prevalence, inheritance patterns, and population origins for 280 disorders.

Area of Science:

  • Genetics
  • Epidemiology
  • Medical Informatics

Background:

  • Human inherited disorders pose significant challenges in clinical practice, research, and public health planning.
  • Accurate and comprehensive data on the frequency of these disorders are crucial for effective genetic services and epidemiological studies.

Purpose of the Study:

  • To establish and describe the Frequency of Inherited Disorders Database (FIDD).
  • To provide a centralized resource for the frequency of human inherited disorders for clinical, research, and public health applications.
  • To illustrate the database's utility using Huntington disease as a case study.

Main Methods:

  • Compilation of a database including disease name, OMIM number, inheritance mode, population origin, prevalence/incidence rates, and literature references.
  • Systematic literature searches to expand the database's scope and scale.
  • Appraisal of 100 articles on Huntington disease prevalence and incidence.

Main Results:

  • The FIDD currently contains 1,580 entries for 280 Mendelian disorders.
  • Coverage of neurological and neuromuscular disorders is nearly complete.
  • Prevalence and incidence rates for Huntington disease varied significantly across different ethnic groups and countries.

Conclusions:

  • The FIDD is a valuable resource for understanding the epidemiology of inherited disorders.
  • The database will be prospectively maintained and expanded.
  • Variations in disease rates highlight the importance of population-specific data in genetic services and research.

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