[44] Rare and Undiagnosed Diseases Flashcards
What are Rare Diseases?
Diseases affecting a small percentage of the population.
What are Undiagnosed Diseases?
Conditions that remain unidentified despite extensive clinical investigation.
How does Advanced Molecular Biology contribute to understanding Rare and Undiagnosed Diseases?
It uses advanced techniques to investigate the genetic and molecular basis of such diseases.
What is the role of Genomics in the study of Rare and Undiagnosed Diseases?
It helps identify the genetic mutations that cause these diseases.
Define the term ‘Genomics’
The study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment.
What is Whole-Exome Sequencing (WES)?
A genomic technique for sequencing all of the protein-coding genes in a genome.
Define the initials WES
Whole-Exome Sequencing
What role does Whole-Exome Sequencing (WES) play in studying Rare and Undiagnosed Diseases?
It can identify genetic mutations in protein-coding genes that may cause these diseases.
How does Advanced Molecular Biology help in the diagnosis of Undiagnosed Diseases?
By using techniques such as gene sequencing and genomic analysis to identify the genetic basis of disease.
What are some challenges in diagnosing Rare and Undiagnosed Diseases?
- Limited knowledge of disease
- Rarity of cases
- Genetic complexity
What is a Genetic Mutation?
A permanent alteration in the DNA sequence that makes up a gene.
What is the role of Bioinformatics in studying Rare and Undiagnosed Diseases?
It helps in analyzing and interpreting complex genetic data, aiding in disease diagnosis and understanding.
Define the term ‘Bioinformatics’
An interdisciplinary field that develops methods and software tools for understanding biological data, particularly when the data sets are large and complex.
What is Phenotypic Data in the context of Rare and Undiagnosed Diseases?
Information about the observable physical or biochemical characteristics of an individual as determined by both genetic makeup and environmental influences.
How is Phenotypic Data used in the diagnosis of Rare and Undiagnosed Diseases?
By comparing the patient’s phenotypic data with known disease phenotypes, doctors can often make a diagnosis.
