Genetics now and into the future Flashcards
What is genetics?
Study of the genetic material inside an organism and how this material controls what the organism looks like and how it works
What are the important milestones in genetics?
1941 - genes encode proteins
1953 - DNA structure
1958 - DNA replication mechanism
1961-67 - cracking genetic code
1977 - DNA sequencing
1983 - PCR
1989 - CFTR protein was sequenced
1992 - eukaryotic genome sequenced
2003 - Human genome sequence published
2013 - first use of CRISPR-Cas9 to edit eukaryotic cells.
What type of variants are associated with larger health risks?
Very rare variants of genomes due to these having large effects on individuals which are not commonly known and therefore cannot be easily treated.
What is the POBI study?
People of the British isles
What did the POBI study measure?
Measured genetic information of individuals whose 4 grandparents all lived within a 50 mile radius.
These clustered individuals based on their genetics created more clusters of similar genetic make ups.
what is PGD?
Pre-implantation genetic diagnosis
What is PGD for?
Allows for the screening of embryos for known genetic variant and therefore only implanting embryos that do not have the condition.
What does CRIPSR-Cas9 do?
Is able to edit and manipulate genes.
What is a germline edit?
An edit into germline cells that will be heritable in future generations however we currently do not know the long term consequences.
What are MinIONs?
Small portable genomic sequencers.
What are some applications of MinIONs?
HLA typing in the field
genome skimming for biodiversity analysis
What are some applications of single cell sequencing?
identify patients at an early disease stage
monitor patients during treatment to identify rogue cells that may be resistant to therapy
