Making chromosome abnormalities treatable conditions.
Individuals affected by the classic chromosome deletion syndromes which were first identified at the beginning of the genetic age, are now positioned to benefit from genomic advances. This issue highlights five of these conditions (4p-, 5p-, 11q-, 18p-, and 18q-). It focuses on the increased in understanding of the molecular underpinnings and envisions how these can be transformed into effective treatments. While it is scientifically exciting to see the phenotypic manifestations of hemizygosity being increasingly understood at the molecular and cellular level, it is even more amazing to consider that we are now on the road to making chromosome abnormalities treatable conditions.
Jannine DeMars
JD
Cody
Daniel Esten
DE
Hale
D002869:Chromosome Aberrations / Q000187:drug effects*; D025063:Chromosome Disorders / Q000235:genetics* / Q000628:therapy*; D002877:Chromosomes, Human / Q000235:genetics*; D006801:Humans
chromosome abnormalities; gene dosage; haploinsufficiency; hemizygosity