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Tay-Sachs Disease Research Project

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Paula Nguyen

on 8 March 2013

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Transcript of Tay-Sachs Disease Research Project

Paula Nhan
Rianne Velasco
Brian Navarro
Pd 6 Tay- Sachs Disease Tay-Sachs Disease is a rare inheritance disease where the nerve cells on the brain and on the spinal cord are destroyed.
The disease has three different forms: -Infantile -Juvenile -Chronic or adult
The infant is born normal but the disease starts to take over as the infant is 3-6 months old.
By the time the infant reaches 4-5 years old, the child dies. Overview Causes Ashkenazi Jewish descent: - About 1 out of 30 people in their is a carrier of the disease.
French-Canadian descent from the East Saint Lawrence River Valley of Quebec & Cajun descent in Louisiana -Another candidate to carry the disease more than others Demographics seizures
less eye contact
not alert or playful
loss of vision
hearing loss
intellectual disability
exaggerated startle reaction to loud noises
death Symptoms Enzyme Activity Test- test that a person can take to check how well their HEXA enzyme is working.

Normal- not a carrier
Abnormal- your a carrier Diagnosis Treatment / References Tay-Sachs Disease. In A.D.A.M Medical Encyclopedia. Retreived from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/
Children Health. In WebMD Medical Reference from Healthwise. Retrieved from http://children.webmd.com/tc/tay-sachs-disease-topic-overview
Mayo Clinic Doctors, Tay-Sachs Disease. In Mayo Foundation. Retrieved from http://www.mayoclinic.org/tay-sachs-disease/
Tay-Sachs Disease. In Genetics Home Reference. Retrieved from http://ghr.nlm.nih.gov/condition/tay-sachs-disease
Jeff Rauschert, Parents Cope with teens with Tay-Sachs Disease. In Flint Journal. Retrieved from http://www.mlive.com/living/flint/index.ssf/2008/04/parents_cope_with_teens_who_ha.html Children whose parents have this disease also have a 25% chance of contracting it as well *Child affected by disease Unfortunately, there is no treatment for this disease. Gene therapy can possibly help find a treatment or it can even slow down the progress of the disease. *Brain scan (MRI) Embryo: Cherry red spot means it's affected The illness is caused by: -lack of hexosaminidase A (protein that breaks down chemicals in the nerve tissue) -the inheritance of a damaged gene on chromosome 15
A fatty substance adds up and affects the child's nerve cells in the brain
This condition is inherited in an autosomal recessive pattern Punnett Square R= Unaffected
r= affected R r R r (Rr are both mom & dad) RR Rr Rr rr -25% of the offspring will be affected by the disease.
-50% won't be affected but will be carriers
-25% won't be affected at all Prognosis Abnormal means both person must take the DNA Test. The DNA test shows how severe the effect of the symptoms to their child. Parents who has children with inflation (which is another form of Tay- Sachs disease) usually dies at the age of 4 or 5.

Juvenile death (another form of the disease) usually occurs when the child is at his/her early adulthood.
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