Week 7 Clinical Genetics Flashcards
(15 cards)
How many Mendelian diseases are estimated worldwide?
Around 7,500–8,000 single-gene disorders.
What is the OMIM database?
Online Mendelian Inheritance in Man – a comprehensive database of human genes and genetic disorders.
How is whole-exome sequencing used in diagnosis?
It’s used when the genetic basis of a suspected condition is unknown, covering all protein-coding genes.
What is pharmacogenomics?
The study of how genetic differences affect individual responses to drugs.
Why do people respond differently to the same drug?
Due to genetic variation in drug-metabolizing enzymes or drug target receptors.
What causes vision loss in glaucoma?
Degeneration of retinal ganglion cells.
Which genes are associated with glaucoma?
MYOC, OPTN, WDR36, CYP1B1, ASB10, TBK1 among others.
How much heritability of POAG is explained by known variants?
About 10%.
What is genomic medicine?
Using a person’s genomic information for diagnosis, treatment, or management of disease.
Why is genomic medicine becoming more common now?
Due to the availability of the human genome sequence and lower sequencing costs.
What is the 100,000 Genomes Project?
A UK initiative to sequence genomes from patients with rare diseases and cancer to advance genomic medicine.
What are the goals of the 100,000 Genomes Project?
Develop new treatments, improve NHS infrastructure, fuel research, and increase public understanding.
What were some results of the 100,000 Genomes Project?
Definitive mutations were found in 20-25% of rare disease cases, helping guide treatment or diagnosis.
What are the main concerns around routine genome sequencing?
Privacy, data access, and how the information might be used by insurers, employers, or law enforcement.
What are criticisms of genomic medicine?
Environmental factors often outweigh genetic ones; potential for false positives and overtreatment.
