RT Book, Section
A1 Rivenbark, Ashley G.
A1 Coleman, William B.
A2 Reisner, Howard M.
SR Print(0)
ID 1115278099
T1 Disease and the Genome: Genetic, Developmental, and Neoplastic Disease
T2 Pathology: A Modern Case Study
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071621564
LK accessmedicine.mhmedical.com/content.aspx?aid=1115278099
RD 2024/04/19
AB Through  the  ages,  physicians  and  scientists  have  studied  diseases  of  humans,  describing  the  abnormal  lesions  (pathology)  and  their  adverse  effects  on  the  patient  (pathophysiology),  seeking  to  identify  risk  factors  (susceptibility)  and  causes  (etiological  agents),  and  pursuing  a  greater  understanding  of  how  diseases  come  to  be  (pathogenesis).  With  progress  in  these  directions,  some  human  diseases  are  now  well  understood  from  the  perspective  of  risk  and  causal  factors,  and  effective  preventative  and/or  treatment  strategies  have  been  developed.  For  many  other  human  diseases,  investigation  into  the  fundamental  elements  of  the  molecular  and  cellular  pathogenesis  represents  an  ongoing  endeavor.  Nevertheless,  in  the  last  several  decades,  the  field  of  pathology  has  evolved  to  recognize  that  disease  manifests  in  many  cases  as  a  direct  reflection  of  changes  in  patterns  of  gene  expression  and  often  involves  changes  in  the  genome.  There  is  also  the  recognition  that  gene  expression  patterns  in  a  given  lesion  type  (e.g.,  a  certain  form  of  cancer)  will  influence  the  clinical  behavior  of  that  lesion  and  its  response  to  therapy.  Hence,  a  great  effort  has  been  expended  to  characterize  the  genetic  basis  of  various  human  diseases  (molecular  pathology),  leading  to  a  greater  understanding  of  the  contributions  of  genomic  alterations  to  the  development  and  progression  of  disease.  Molecular  pathology  represents  the  application  of  the  principles  of  basic  molecular  biology  to  the  investigation  of  human  disease  processes.  Our  ever  broadening  insights  into  the  molecular  basis  of  disease  provide  opportunities  for  the  development  of  new  and  novel  approaches  for  diagnosis,  classification,  and  prognostic  assessment  of  human  disease,  and  for  expansion  of  treatments  that  are  directed  at  specific  molecular  targets  or  pathways.  In  this  chapter,  we  provide  an  overview  of  the  role  of  the  genomic  alterations  in  genetic,  developmental,  and  neoplastic  diseases,  with  special  emphasis  on  the  role  of  mutations  and  epimutations  in  the  pathogenesis  of  these  disease  states.