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Tay Sachs

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Ryan Haes

on 27 September 2012

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Transcript of Tay Sachs

TAY SACHS pATHOLOGY Disease of the Lysosome Cause by a defective gene in the 15th chromosome Can't Make the Hexosaminidase A Enzyme Causes a build up of gangliosides in BRAIN CELLS Symptoms INFANTILE JUVENILE ADULT/ CHRONIC Break down at less than 15% Slowest mental deterioration Lipid found on the membranes of nerve cells
Function in communication and cell recognition Cherry Spot in the eye A.14 months B.15 months C.After introduction of glycerol
and dexamethasone into the right side of the brain. Swelling and high signal intensity improved. D.Seizure relapse E.19 months F.35 months White is swelling and high signal intensity bACKGROUND 1882 Bernard Sachs discovered cherry spot in retina of eye 1969 Dr. Shintaro Okada and Dr. John S. O’Brien published discovery of Hexosaminidase A deficiency in Tay Sachs. 1881 Warren Tay reports first case
in a Jewish family 1899 Mendel's research of inheritance explains
how Tay Sachs appears in people 1970's Early Protocols to test newborns and carriers
Protocols for pre-natal detection. 1979 3 variants of Tay Sachs found Ashkenazi Jewish 1:27 French Canadian 1:250 General Population Normal at birth Symptoms start between 3 and 6 months old Muscle weakness and twitching Increased startle reaction Coordination problems Seizures and vision loss by the end of their first year Deafness, inability to swallow,
and weakened muscles Paralysis Death
before 4-5 years Break down 0-5% efficiency Starts between ages 2 and 10 Develop normally through toddler years Difficulty with coordination and
speech Seizures develop Blindness Survive into teen years Death
in late teens Starts after teenage years, but varies depending on processing rate of gangliosides Neurological problems
Poor coordination
Movement disorders
Speech problems
Mental illness Brain's ability to function is preserved for many years rESEARCH Cure For Tay Sachs
? Zavesca Substrate inhibition slows the disease progression
Clinical trial not successful enough for production
Those who tested it reported reduced symptoms
Decreases amount of waste build-up in lysosome Pyrimethamine (PYR) molecular chaperone for Late Onset and Juvenile Tay Sachs
Increase amount of active Hex A enzymes with right dosage
Decrease with wrong dosage
Changes the enzyme's shape
Currently in clinical trial with hundreds of people. Experimentation with
Stem cells
Bone Marrow transplant cITATIONS http://www.ncbi.nlm.nih.gov/books/NBK1218/ http://www.jewishfederations.org/page.aspx?id=30796 http://www.ntsad.org/index.php/tay-sachs/history http://www.sciencedirect.com/science/article/pii/S0387760409000552 http://www.intelihealth.com/IH/ihtIH/WSIHW000/32193/35422.html 1:50 Irish Americans Victims of Tay Sachs There is currently no cure for Tay Sachs. Ryan Haes rELEVANCE increase the scientific community's knowledge of how the brain functions
form a process of creating cures for other diseases that are affiliated with the brain and genetics To SCIENTIST To NONSCIENTIST might end up getting rid of the gene altogether
increase the general population Curing a person with tay sachs would only ways to make those affected more comfortable How having a family member with Tay Sachs effects us record the behavior of family member
more willing to try new cures and procedures
improve dedication to develop possibilities for improving condition of family member feel sorry for that family member
either disconnect from him/ her in effort to forget or
form a deeper connection in effort of decreasing pain of family member Curing a person with tay sachs would How having a family member with Tay Sachs effects us Warren Tay Bernard Sachs Tay Sachs as a disease Tay Sachs as a disease Extremely difficult to treat
Many scientists are working to cure people of Tay Sachs Causes death mostly in infants
There is no way of treating people with this disease
A carrier shouldn't reproduce with another carrier Quiz 1) What organelle does this disease affect?
Golgi apparatus, mitochondria, or lysosomes?

2) What is the worst and most common form?
Infantile, Juvenile, or Adult?

3) Besides death what are two symptoms caused by Tay Sachs?

4) Is there currently a cure?

5) True or False?
The disease causes a build up of gangliosides in nerve cells located in the brain? Hello Enzyme affected by Tay Sachs Active site Ganglioside Enzyme with molecular chaperone Active site Ganglioside http://www.genomenewsnetwork.org/articles/08_01/Tay_Sachs_gene_tests.shtml Before 1970, 60 new cases reported annually
Now less than 5 new cases in the US annually
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