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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