RT Book, Section
A1 Schaefer, G. Bradley
A1 Thompson, Jr., James N.
SR Print(0)
ID 1147723440
T1 Genetic Therapeutics
T2 Medical Genetics: An Integrated Approach
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071664387
LK accessmedicine.mhmedical.com/content.aspx?aid=1147723440
RD 2024/04/19
AB By  this  point  in  the  book,  we  feel  sure  you  as  readers  have  appreciated  the  heavy  emphasis  on  diagnostics.  In  fact,  the  mainstay  of  clinical  genetics  is  still  in  identifying  the  etiology  and  pathogenesis  of  specific  disorders.  However,  as  the  practice  of  clinical  genetics  has  progressed,  so  have  advances  in  therapies.  There  are  now  several  available  modalities  of  genetic  treatments.  Up  until  recently,  however,  most  treatments  provided  by  medical  geneticists  primarily  involved  counseling  and  case  management.  The  treatment  of  inborn  errors  of  metabolism  (IEM)  dates  back  to  the  mid-1960s.  These  treatments  have  involved  dietary  adjustments,  specialized  formulas,  and  vitamin/cofactor  supplementation.  More  recently  tissue  transplantation  and  enzyme  replacement  therapies  have  become  available.  New  treatment  modalities  have  been  developed  for  non-metabolic  disorders.  Bioengineered  pharmaceuticals  are  now  commonplace.  Other  treatment  options  like  personalized  medicine  strategies,  tissue  cloning,  gene  correction,  and  true  gene  therapy  all  sit  poised  for  transition  out  of  clinical  trials  and  into  standard  medical  care.  In  the  first  section  of  this  chapter  we  will  discuss  the  mechanisms  of  the  different  modes  of  genetic  therapies.  In  the  second  section  we  will  discuss  the  clinical  application  of  these  therapies.