TY  - CHAP
M1  - Book, Section
TI  - The Genetic Basis of Respiratory Disorders
A1  - Aldred, Micheala A.
A2  - Grippi, Michael A.
A2  - Antin-Ozerkis, Danielle E.
A2  - Dela Cruz, Charles S.
A2  - Kotloff, Robert M.
A2  - Kotton, Camille Nelson
A2  - Pack, Allan I.
Y1  - 2023
N1  - 
T2  - Fishman’s Pulmonary Diseases and Disorders, 6e
AB  - The  field  of  genetics  and  genomics  continues  to  advance  at  an  incredible  pace  since  the  completion  of  the  Human  Genome  Project.  Now,  thanks  to  rapid  advances  in  sequencing  technology  and  bioinformatics,  we  have  sequenced  hundreds  of  thousands  of  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  as  part  of  their  clinical  evaluation  is  now  commonplace,  although  distinguishing  the  causative  genetic  change  from  the  myriad  other  nonpathogenic  variants  remains  challenging.  As  other  technologies  develop,  we  increasingly  look  beyond  our  DNA  sequence  to  understand  the  regulation  and  function  of  the  resulting  RNA  (transcriptome)  and  proteins  (proteome)  it  encodes,  integrating  these  layers  to  understand  complex  biological  networks  in  health  and  disease.  Even  beyond  human  genetics,  genomic  technologies  are  making  an  enormous  impact  on  pulmonary  disease.  In  2020,  as  the  COVID-19  pandemic  emerged,  the  SARS-CoV-2  virus  was  quickly  sequenced  and  shared,  in  the  spirit  of  open  science  pioneered  by  the  Human  Genome  Project.  Existing  bioinformatic  networks  that  already  tracked  other  pathogens,  such  as  influenza,  were  repurposed  to  disseminate  the  latest  knowledge  on  the  evolution  of  the  virus  as  it  spread  around  the  world.  Knowing  the  sequence,  understanding  its  relation  to  other  coronaviruses,  and  modeling  the  structure  of  viral  proteins  has  been  pivotal  in  enabling  the  development  of  vaccine  candidates  in  record  time.  Against  this  backdrop,  this  chapter  on  the  genetics  of  lung  diseases  could  easily  be  out  of  date  before  it  is  even  in  print.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  rather  gives  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.  The  chapter  outlines  some  of  the  emerging  roles  of  epigenetic  modifications  and  aims  to  give  a  vision  of  where  the  field  is  moving,  concluding  with  exciting  advances  and  prospects  for  genetically  targeted  therapies.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/23
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1194945691
ER  -