Human Gene Mutation Database (HGMD)

Definition

The Human Gene Mutation Database (HGMD) is a comprehensive resource that catalogs mutations in human genes that are associated with inherited diseases. This database is essential for understanding rare genetic disorders and facilitates variant interpretation by providing a centralized collection of mutation data, which helps researchers and clinicians assess the pathogenicity of specific genetic variants in the context of rare diseases.

5 Must Know Facts For Your Next Test

1. HGMD contains detailed information on over 200,000 mutation entries related to human inherited disorders, making it a critical resource for genetic research.
2. The database includes not only pathogenic mutations but also variants of uncertain significance, which aids in understanding the complexity of gene-disease relationships.
3. HGMD is regularly updated to include new findings from research and clinical studies, ensuring that it reflects the latest knowledge in human genetics.
4. Access to HGMD is essential for clinicians working in genetics, as it supports informed decision-making regarding patient diagnosis and treatment plans.
5. The database is widely used by researchers to identify potential genetic causes of rare diseases and contributes to the advancement of precision medicine.

Review Questions

• How does the Human Gene Mutation Database (HGMD) assist in variant interpretation for rare diseases?
  • HGMD provides a centralized collection of mutation data that includes information on known pathogenic mutations associated with inherited diseases. This enables researchers and clinicians to evaluate specific genetic variants in a context that is relevant to rare diseases. By offering insights into previously documented mutations, HGMD helps determine whether a newly identified variant is likely to be benign or harmful, ultimately guiding patient diagnosis and management.
• Discuss the implications of including variants of uncertain significance in the Human Gene Mutation Database (HGMD).
  • Including variants of uncertain significance in HGMD has significant implications for genetic research and clinical practice. It allows clinicians to consider these variants when making decisions about patient care, even when definitive evidence about their pathogenicity is lacking. This inclusion highlights the complexity of gene-disease relationships and encourages further investigation into these variants, potentially leading to new discoveries and a better understanding of genetic disorders over time.
• Evaluate how HGMD contributes to advancements in precision medicine through its role in understanding rare genetic disorders.
  • HGMD plays a pivotal role in advancing precision medicine by providing valuable data on the genetic underpinnings of rare disorders. By facilitating a comprehensive understanding of mutations linked to these conditions, HGMD supports the development of targeted therapies and personalized treatment strategies. As researchers access this wealth of information, they can identify potential therapeutic targets and better predict patient responses based on their unique genetic profiles, ultimately improving outcomes for individuals with rare diseases.

Related terms

Variant Interpretation: The process of evaluating genetic variants to determine their significance in terms of disease association, often categorizing them as benign, likely benign, uncertain significance, likely pathogenic, or pathogenic.

Genetic Epidemiology: A field that studies the role of genetic factors in determining health and disease in families and populations, helping to understand the distribution and determinants of genetic disorders.

Clinical Genomics: A branch of genomics that focuses on the application of genomic information in clinical settings, particularly in diagnosing and treating genetic disorders.