1. TAY-SACHS DISEASE BY ERIC WONG

2. TAY-SACHS DISEASE  Rare  Genetic Disorder  Destroys nerve cells (neurons)  In the brain and spinal cord  Fatal in most occurrences

3. OTHER NAMES  TSD  GM2  Hexosaminidase  Sphingolipidosis

4. WARREN TAY He was a British ophthalmologist who in 1881 first described the red spot on the retina of the eye, which is present in Tay-Sachs Disease. BERNARD SACHS He was a neurologist, who described cellular changes caused by the disease a few years later.

5. Tay-Sachs Diseases is caused by a genetic mutation in HEXA gene on chromosome 15. The absence of a vital enzyme called Hexosmindase A (Hex-A)This is disease is most common in Jews. Hex-A Accumulation of GM2 in nerve cells of the brain Normally… However, in Tay-Sachs, there is no Hex-A so this process does not occur

6. GENE LOCATION Chromosome 15 showing location of the syndrome

7. GENETIC SEQUENCE 1 ggccgggacg gggcagggcg aacctgccag tgactggact cagcttcttt gcgtaaccaa 61 tactggaagg catttaaagg cacctctgcc gccacagacc ttgcagttaa ctccgccctg 121 acccaccctt cccgatgcag tccctgatgc aggctcccct cctgatcgcc ctgggcttgc 181 ttctcgcggc ccctgcgcaa gcccacctga aaaagccatc ccagctcagt agcttttcct 241 gggataactg tgatgaaggg aaggaccctg cggtgatcag aagcctgact ctggagcctg 301 accccatcat cgttcctgga aatgtgaccc tcagtgtcat gggcagcacc agtgtccccc 361 tgagttctcc tctgaaggtg gatttagttt tggagaagga ggtggctggc ctctggatca 421 agatcccatg cacagactac attggcagct gtacctttga acacttctgt gatgtgcttg 481 acatgttaat tcctactggg gagccctgcc cagagcccct gcgtacctat gggcttcctt 541 gccactgtcc cttcaaagaa ggaacctact cactgcccaa gagcgaattc gttgtgcctg 601 acctggagct gcccagttgg ctcaccaccg ggaactaccg catagagagc gtcctgagca 661 gcagtgggaa gcgtctgggc tgcatcaaga tcgctgcctc tctaaagggc atataacatg 721 gcatctgcca cagcagaatg gagcggtgtg aggaaggtcc cttttcctct gttttgtgtt 781 tgccaaggcc aaactcccac tctctgcccc cctttaatcc cctttctaca gtgagtccac 841 taccctcact gaaaatcatt ttgtaccact tacattttag gctggggcaa gcagccctga 901 cctaagggag aatgagttgg acagttcttg atagcccagg gcatctgctg ggctgaccac 961 gttactcatc cccgttaaca ttctctctaa agagcctcgt tcatttccaa agcagttaag 1021 gaatgggaac cagagtgttt taggacctga agaatcttta tgactctctc tctttcactc 1081 tttttttttt ttgtcactaa gttaaaagcg aagtgagagt attaacgttt ttgttctcct 1141 ccggccccct gttacaatga aggggcaaaa gtatttgctc ttagtctatt cctcccttaa 1201 cttctgtgac taatttttat ttcctttcta gatttgccca attaatacta gggtgcagtg 1261 tatcctggag aggtagggtg tgtgggggag gaatcccttg ggggagatat taggagtgct 1321 ctgttgttta caaactcagg tacccgcagg gcctagcaag agacttaaat gactgataag 1381 aaccgtgaga aacatgttgc ttccaggctt gatttcgatt tttcgctttt tttttttttg 1441 agacagaatc tcactttgtc accaggctgg agtgcagtgg tgcaatctca cctcactgca 1501 acctccgcct cctgggttca agcaattctc ctgcctcagc ctcccaagta gcttggacta 1561 caggccctgc caccacgccc ggctaatttg tgtattttta gtagagatgg ggtttcacca 1621 tgttggccag gatggtctcg atctcttgac ctcgtgatct gtccaccttg gccttgcaaa 1681 gcgctggatt acaggcatga gccactacac ccagccgatt tttccttttt gattaaagat 1741 gctattacaa tgtaaatatt tcttacacag aaagtcacag cacatgtgcc cattgataca 1801 aggctgctga ggcctggtct ccagttggaa atataattaa gggtggcaag gactggagtc 1861 agttggagag tgcatagcca gtctgtgaag acaactgcca gatactggca atactccagc 1921 ctggtgacag agtgagactc tgtctcaaaa aaaaagtttc aatgtttact cctagagaag 1981 ccaaaaatcc agatttgtat atgaaatctt accattttaa aagattggca gctaattatt 2041 tttttaaaaa gctgtgcagt gtgatgtgtc ccaaacggac tggctcatgg gtggccacgt 2101 cacaacctct gatctcagac cgtgcatgcc ttgtcctctt aagacaactc ctgtggcacc 2161 gtttctccct ccacagggcc aaagccatag tgtccggtcc caaggacaag gctcttccag 2221 tgctaggaga ggtatgagca gcctctcacc tgtgagctgt ggggatcaca aggctgcctg 2281 cctcagtctt ggagtcctgt tgggtgaatg aggcagatgg gaaagagcct caccagcagc 2341 tgcttttgga gcaggggtcc aaggaagaga gggtggcctc gacatcaaac tgcctggatt 2401 tttctaccac cctgttacat cataacaact tctgaaacac acaccagccc tgagttctgg 2461 gctcatttga agcctggaat agcaataaat ctttttaact tgcggacagt taaaaaaaaa 2521 a

8. SYMPTOMS There is a distinct red spot in the eye of a patient with Tay-Sachs Disease. Slow development Seizures and fading mental functions Blindness, mental retardation, paralysis and non-responsiveness

9. CONTRIBUTING FACTORS AND INHERITANCE Found in persons of eastern European (Ashkenazi) Jewish descent. Tay-Sachs is a recessive disorder. TtTt TTTt tt TtTt t = Tay-Sachs gene

10. HOW THE DISEASE IS PASSED ON To the let is a diagram of how two parents pass on the trait for the disease.

11. TYPES OF TAY-SACHS Infantile Tay-Sachs Disease Juvenile Tay-Sachs Disease Adult/Late Onset Tay-Sachs Disease

12. INFANTILE TAY-SACHS DISEASE Develop normally for the first six months of life Deterioration of mental and physical abilities occurs Blind, deaf and unable to swallow, and paralysis sets in. Death occurs before the age of 4 or 5.

13. JUVENILE TAY-SACHS DISEASE Extremely rare Occurs in children between ages of 2 and 10 Develop speech difficulties, swallowing difficulties and unsteadiness. Die between 5-15 years of age.

14. ADULT/LATE ONSET TAY-SACHS DISEASE Occurs in 20s and early 30s. Mon-fatal. Patients become full-time wheelchair users in adulthood, but live full adult lives. Medications can control symptoms VERY VERY rare

15. PREVENTION/CURE There is no real cure for this disease, but there are many steps to preventing the disease. You can have a mate selection test to see if you or your partner are carriers for the disease, and there is also a process to test the mother’s egg to test for the disease.

16. DETECTION METHODS: Amniocentesis Chorionic villus sampling Blood samples to detect carriers

17. REFERENCES www.wikipedia.org LOL