Research Funded by the Deater Foundation

We​ ​are​ ​very​ ​pleased​ ​to​ ​provide​ ​this​ ​update​ ​on​ ​progress​ ​toward​ ​devising​ ​methods​ ​to silence​ ​the​ ​SPTLC1​ ​gene​ ​as​ ​a​ ​potential​ ​therapy​ ​for​ ​HSAN1.​ ​We​ ​have​ ​made​ ​progress in​ ​three​ ​areas.​ ​​ ​The​ ​key​ ​point​ ​is​ ​that​ ​we​ ​have​ ​now​ ​developed​ ​two​ ​types​ ​of​ ​reagents that​ ​can​ ​silence​ ​the​ ​SPTLC1​ ​gene.  
  
One​ ​type​ ​of​ ​reagent​ ​is​ ​composed​ ​of​ ​small​ ​strings​ ​of​ ​~​ ​20​ ​molecules​ ​of​ ​nucleic​ ​acids (antisense​ ​oligonucleotides​ ​or​ ​ASO’s)​ ​that​ ​have​ ​sequences​ ​complementary​ ​to​ ​specific sequences​ ​in​ ​the​ ​SPTLC1​ ​gene.​ ​​ ​The​ ​concept​ ​is​ ​that​ ​these​ ​ASO’s​ ​bind​ ​RNA​ ​from​ ​the​ ​target​ ​gene​ ​and thereby​ ​activate​ ​enzymes​ ​that​ ​break-up​ ​the​ ​RNA,​ ​preventing​ ​it​ ​from​ ​making​ ​protein.​ ​​ ​​ ​As​ ​we​ ​have reported​ ​before,​ ​we​ ​have​ ​been​ ​fortunate​ ​to​ ​have​ ​Havisha​ ​Karnam​ ​as​ ​a​ ​graduate​ ​student​ ​working​ ​in conjunction​ ​with​ ​Anastasia​ ​Khvorova​ ​Ph.D.​ ​on​ ​this​ ​project.​ ​​ ​Dr.​ ​Khvorova​ ​is​ ​an​ ​internationally recognized​ ​expert​ ​in​ ​the​ ​chemistry​ ​of​ ​ASO’s.​ ​​ ​With​ ​Dr.​ ​Khvorova’s​ ​guidance,​ ​Havisha​ ​has​ ​used​ ​two types​ ​of​ ​chemistry​ ​(designated​ ​LNA​ ​gapmers​ ​and​ ​hsiRNA)​ ​to​ ​generate​ ​ASO’s​ ​that​ ​can​ ​silence SPTLC1.​ ​​ ​In​ ​particular,​ ​she​ ​has​ ​developed​ ​ASO’s​ ​that​ ​specifically​ ​target​ ​hamster​ ​SPTLC1​ ​and​ ​not mouse,​ ​and​ ​reciprocally.​ ​​ ​She​ ​also​ ​now​ ​has​ ​ASO’s​ ​that​ ​target​ ​human​

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HSAN1: Basic Breakdown

The​ ​purpose​ ​of​ ​the​ ​Deater​ ​Foundation​ ​is​ ​to​ ​provide​ ​funding​ ​for​ ​medical​ ​research​ ​on​ ​the​ ​disease Hereditary​ ​Sensory​ ​and​ ​Autonomic​ ​Neuropathy​ ​Type1​ ​to​ ​discover​ ​a​ ​treatment​ ​or​ ​cure. 
Hereditary​ ​Sensory​ ​and​ ​Autonomic​ ​Neuropathy​ ​Type1​ ​(HSAN1)​ ​is​ ​an​ ​​autosomal​ ​dominant​​ ​disease caused​ ​by​ ​an​ ​error​ ​in​ ​the​ ​genetic​ ​code​ ​(the​ ​DNA).​ ​​Autosomal ​DNA​ ​describes​ ​DNA​ ​which​ ​is​ ​inherited from​ ​any​ ​of​ ​the​ ​numbered​ ​chromosomes.​ ​Humans​ ​have​ ​22​ ​pairs​ ​of​ ​autosomes​ ​and​ ​one​ ​pair​ ​of​ ​sex chromosomes.​ ​In​ ​an​ ​autosomal​ ​​dominant​ ​​disease,​ ​only​ ​one​ ​of​ ​the​ ​parents​ ​must​ ​have​ ​the​ ​deviant chromosome​ ​for​ ​the​ ​disease​ ​to​ ​be​ ​passed​ ​on​ ​to​ ​the​ ​offspring.​ ​The​ ​child​ ​could​ ​inherit​ ​the​ ​“good” chromosome​ ​from​ ​the​ ​affected​ ​parent​ ​and​ ​the​ ​“good”​ ​chromosome​ ​from​ ​the​ ​unaffected​ ​parent​ ​and​ ​be well,​ ​or​ ​could​ ​inherit​ ​the​ ​deviant,​ ​or​ ​“bad”​ ​chromosome​ ​from​ ​the​ ​affected​ ​parent​ ​and​ ​the​ ​“good” chromosome​ ​from​ ​the​ ​unaffected​ ​parent.​ ​Each​ ​child​ ​has​ ​a​ ​50/50​ ​chance​ ​of​ ​inheriting​ ​the​ ​deviant chromosome. 
Researchers​ ​have​ ​found​ ​at​ ​least​ ​four ​genes​ responsible​ ​for​ ​hereditary​ ​sensory​ ​neuropathy​ ​type​ ​1 (HSAN1).​​ ​The​ ​research​ ​that​ ​is​ ​currently​ ​being​ ​supported​ ​by​ ​the​ ​Deater​ ​Foundation​ ​is​ ​centered​ ​on​ ​the mutation​ ​in​ ​the​ ​SPTLC1​ ​gene.​ ​​The SPTLC1 gene​

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