TY  - CHAP
M1  - Book, Section
TI  - The Genetic Basis of Respiratory Disorders
A1  - Aldred, Micheala A.
A2  - Grippi, Michael A.
A2  - Elias, Jack A.
A2  - Fishman, Jay A.
A2  - Kotloff, Robert M.
A2  - Pack, Allan I.
A2  - Senior, Robert M.
A2  - Siegel, Mark D.
PY  - 2015
T2  - Fishman's Pulmonary Diseases and Disorders, 5e
AB  - The  field  of  genetics  and  genomics  is  advancing  at  an  incredible  pace.  The  completion  of  the  Human  Genome  Project  was  just  the  beginning.  Now,  thanks  to  rapid  advances  in  sequencing  technology  and  bioinformatics,  we  have  made  significant  progress  toward  sequencing  1000  genomes  from  around  the  world,  uncovering  great  genetic  diversity  and  challenging  us  to  understand  the  biologic  relevance.  Sequencing  the  exome  (the  protein-coding  parts  of  the  genome)  of  a  patient  with  an  undiagnosed  condition  is  already  a  reality.  Even  beyond  human  genetics,  genomic  technologies  are  making  an  impact  on  pulmonary  disease,  enabling  characterization  of  new  respiratory  pathogen  genomes,  such  as  the  SARS  virus  and  pandemic  H1N1  influenza,  with  unprecedented  speed.  Against  this  backdrop,  a  chapter  on  the  genetics  of  lung  diseases  could  easily  be  out  of  date  before  it  is  even  in  print.  Thus  it  does  not  seek  to  be  encyclopedic,  but  to  give  the  reader  a  grounding  in  the  principles  of  human  genetics,  an  overview  of  current  knowledge  in  Mendelian  lung  diseases  and  a  summary  of  recent  progress  in  understanding  genetic  factors  contributing  to  common  lung  conditions.  It  outlines  some  of  the  emerging  roles  of  epigenetic  modifications  and  aims  to  give  a  vision  of  where  the  field  is  moving,  concluding  with  current  and  future  prospects  for  genetically  targeted  therapies.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1122354621
ER  -