Year 10 Human Biology: Genetic Disorders

Key Terms

Tay-Sachs Disease: a rare and usually fatal genetic disorder caused by a mutation in the HEXA gene that causes progressive damage to the nervous system. Most children with the condition die before they're four years old.

Source: NHS Choices

Resources

HEXA Gene

HEXA Gene on Chromosome 21

Source: Genetics Home Reference
https://ghr.nlm.nih.gov/gene/HEXA

ABC 10 News

Local family battles Tay-Sachs disease, fights to save son's life - ABC 10 News

https://www.youtube.com/watch?v=Wkj67d5V3hU
Broadcast 4 April 2013
Retrieved 8 Feb 2017

Nathan's Story - EinsteinHealth

Nathan's Story; Tay-Sachs Disease in the Irish Population | EinsteinHealth
Retrieved 8 Feb 2017
https://www.youtube.com/watch?v=RzEpkBU-ITA

Cherry-red spot

Cherry-red spot: a finding in the macula of the eye and symptom of Tay-Sachs disease. Image source: http://maculaspecialists.com.au/case/july-2014/
Retrieved on 8 Feb 2017